systemic disease KMK Flashcards
Who is at the highest risk of suicide?
White Middle Aged or Elderly Men
What 3 things are seen in a patient with substance abuse?
- Psychological Dependence: Behavior of needing drug
- Physiological Dependence: Physical Need of the drug to not have withdrawl symptoms
- Drug Tolerance: Need for higher doses to maintain drug effects
Treatments for anxiety include:
- Benzodiazepines
- Antidepressants
- Counseling
Alcoholics are more prone to what 3 things?
- Gallstones
- Alcoholic Hepatitis
- Cirrhosis of the liver
Marasmus
Protein calorie malnutrition and tissue wasting
Kwashiorkor
Protein malnutrition that results in skin lesions, anemia, edema, and liver functions. Presents with a swollen belly on a patient that looks malnourished
Protein encoded gene that has the potential to cause cancer?
Oncogenes
What is the 2nd most common form of skin cancer? What does it result from?
Squamous Cell Carcinoma (Baretts Esophagus) and results from Metaplasia
What is a change from one mature cell type to another due to chronic irritation or a pathogen or carcinogen?
Metaplasia
Final step in dysplasia where growth penetrates the epithelial basement membrane to invade tissue
Invasive Carcinoma (aka cancer)
High grade dysplasia is synonymous with what?
Carcinoma In Situ
aka transformation into a cancerous cell is high
What is considered the earliest form of a pre-cancerous lesion that is recognizable in a biopsy?
Low Grade Dysplasia
Where do sarcomas arise from?
Mesenchymal (connective) tissues
BVs, Heart, Bone
Which of the following skin cancers is a result of metaplasia?
Squamous cell carcinoma
Basal cell carcinoma
Melanoma
Sebaceous gland carcinoma
Squamous cell carcinoma
What can alcohol do to the eye directly?
Can cause a toxic Optic Neuropathy
BITEMPORAL OPTIC NERVE PALLOR
-THIS LEADS TO CENTRAL VISION LOSS IN BOTH EYES
the temporal portion of the optic nerve is responsible for creating the papillomacular bundle.
Is Wernick’es syndrome reversible if given B1?
How about Korsakoff syndrome?
B1 = thiamine
Wernicke’s is reversible
Korsakoff is not reversible.
What eye finding can occur due to Wernicke’s syndrome?
Opthlamoplegia
What Vitamin deficiency causes Wernicke’s?
Lack of Vit. B1 (thiamine)
Review: how to we test for Hepatitis?
-Blood test, will have High AST and High ALT.
-also decrease HgB and Increase bilirubin (due to cirrhosis of the liver and Jaundice)
What 2 systemic conditions can alcoholism cause?
- Hepatitis
- Wernicke-Korsakoff syndrome
What does the word dysplasia mean?
Disorganized cell growth.
What does Sarcoma mean?
Comes from connective tissue
i.e. bone tissue
Think of RhabdomyoSARCOMA, I know this means rapid bone destruction and then think of sarcomas as being able to affect any connective tissue.
What does the word carcinoma mean?
Comes from epithelial tissue
i.e. breast tissue
If a pt gets treated with surgery for a parotid gland tumor, which nerve are we concerned about nicking?
Facial Nerve.
Located near the jaw
What is the best way to test for optic nerve toxicity?
Color vision testing.
What are the 4 drugs that can cause optic neuritis?
“you are rolling the DICE by taking these drugs”
D- Digioxin
I - Isoniazid
C - Chloraphenticol, contraceptives
E - Ethambutol
Which TB drug do we worry about?
ETHAMBUTOL
-bilateral retrobulbar optic neuritis.
If you get a positive skin test, what is the second step of testing? TB
Chest x-ray.
-if the chest x ray is negative, you get put on isoniazid for 9 months. (this is considered LATENT Tb)
-if you get a positive chest x-ray, you get put on multiple drugs and in combination.
What is a positive TB test for a
5mm - someone who is positive for HIV or has Tb in the family
10mm - healthcare workers
15mm - normal population
What ocular complications can Tuberculosis cause?
-Bilateral Granulomatous Uveitis
-CME
-keratitis
-Phlyctenules
-Causes Caseous necrosis
-TB is part of a delayed hypersensitivity reaction.
What is the most common systemic complain of TB pts?
Night sweats
then also the cough.
How do we treat asthma due to chronic inflammation?
Steroids
What are our Beta 2 agonist drugs?
What affect do they have on the eyes?
Beta 2 AGONISTS (bucket #3) “Beta 2 BUTS”
Salmeterol
Metoproterenol
Albuterol
Levalbuterol
Terbutaline
B2 receptors are located on the lungs and in the eyes. In the eyes they are located on the NPCE and with an Agonist results in an Increase in Aq production => Increase IOP
How do we treat acute reversible bronchospasm?
Beta 2 Agonists
“beta 2 BUTS”
Beta 2 receptors located on the lungs dilate with agonists.
(this is why Beta BLOCKERs are C/I in asthma or COPD b/c they constrict the lungs and make it harder for them to breath)
Asthma is composed of what two different things?
- Acute reversible bronchospasm
- Chronic inflammation
What condition is associated with blue bloaters?
How to diagnose?
Chronic Bronchitis.
Instead of a buildup of Oxygen (as in Emphysema) this is a buildup of CO2.
-Lungs get mucus buildup that traps CO2.
Have to have bronchitis for 3 months and a minimum of 2x in one year for Dx.
Which type of COPD is classified as pink puffers?
Emphysema
-Smocking breaks down the alveolar sacs that then end up retaining oxygen.
-Pts will have to puff out the oxygen.
What are the two classes of COPD?
- Emphysema
- Chronic Bronchitis
What is the #1 cause of COPD?
Smoking
What are the ways to treat or get rid of Menier’s?
You need to ELIMINATE CATS
stop taking in:
1. Caffeine
2. Alcohol
3. Tobacco
4. Salts
Menier’s Dz has a classic triad of what three things?
- Hearing loss
- Vertigo
- ringing of the ear (tinnitus)
side note: true vertigo is always associated with nystagmus, (horizontal nystagmus)
If you have hearing loss due to a CN, which one is the culprit?
CN 8
Vestibulocochlear
Hearing loss can be caused by a problem with conduction or sensory.
Which is most commonly the problem with hearing loss?
Conduction problem.
Optoprep question:
Action potentials are directly initiated by which component of the ear?
Hair cells in the organ of Corti
The oval window
The incus
Vestibular apparatus
The pinna
Hair cells in the organ of Corti
Which of the following findings is LEAST likely in a patient with Crohn’s disease?
Cobblestone mucosa
Sparing of the rectus
Skip lesions
Autoimmune etiology
Autoimmune etiology
Crohn’s actually has an INFECTIOUS etiology!
I didn’t realize that… And Ulcerative colitis is autoimmune.
What is a classic sign of Cholecystitis?
+ Murphy’s sign (upper right quadrant pain especially after meals.)
what is Cholecystitis
Who?
inflammation of the gallbladder secondary to cholesterol stones, sludge, or infection.
Most common in overweight females of childbearing age.
What lab tests can order to look at pancreatic function?
- Lipase
- Amylase
What two things can cause Pancreatitis?
- Alcohol
- Gallstones
If the liver cant make bile, what problem does this cause?
Jaundice (problem with bilirubin )
Reminder: sickle cell anemia can also cause Jaundice
Are the hepatice’s RNA or DNA viruses?
All are RNA except B (B is a DNA)
Hepatitis D only occurs with what other one?
D only occurs with B.
Which of the viral hepatitis are chronic?
C “C for chronic
Which of of the Hepatitises have vaccinations?
A and B
Which of the Hepatitises has fecal oral transmission?
A and E
The vowels go with the bowels.
Optoprep question:
What is the primary route of infection of patients diagnosed with hepatitis C?
Blood transfusion
Intravenous drug use
Contaminated food
Sexual contact
Tattoos and piercings
Intravenous drug use
What are 3 main categories of things that may inflame the liver and cause Hepatitis?
- alcohol
- Fatty liver
- Viral
What lab test can you do to test the liver?
- AST
- ALT
Note: a lot of things can elevate these two values such as Tylenol, Alcohol.
Penicillamine is not well tolerated, what three ocular SE can result from treating Wilson’s Dz with Penicillamine?
- Myasthetia (diplopia, ptosis)
- Optic Neuritis
- Ocular Pemphigoid (fluid filled blisters)
Idk what is worse, the copper or the SE from the drug to tx it.
What is the tx for Wilson’s disease?
PenicillAMINE
What condition is characterized by a Kayser-Fleicher ring and a Sunflower cataract? What is the other name?
Wilson’s Disease (Hepatolenticular degeneration)
-Copper!!
Think of Wilson the volleyball floating in the water, it is a copper ring and a sunflower growing out of it.
What ocular finding is associated with colon cancer?
Multiple CHRPES on the fundus -> gardener’s syndrome -> colon cancer.
Get a colonoscopy!
Where does Uclerative colitis start and where does it move to?
Starts in the Rectum and moves to the Colon.
Which inflammatory bowel disease has skip lesions?
Crohn’s or Ulcerative Colitis
Crohns.
Crohns has Skip lesions and a Cobblestone appearance.
“think skipping down a cobblestone road with Crohns”
What ocular SE can both Crohn’s and Ulcerative colitis have?
Uveitis!
Crohn’s and ulcerative colitis are positive for what test?
HLA-B27 +
UCRAP
What are the two types of inflammatory bowel disease?
- Crohn’s Dz
- Ulcerative colitis
What is Barriets Esophagus?
Acid causes a change in cell type (Metaplasia, one mature cell type to another mature cell type)
Squamous cells -> Columnar cells.
This can then lead to esophageal cancer.
What two things can cause peptic ulcer dz?
- H. Pylori
- Chronic NSAID use
-NSAIDS stop Cox which stops prostaglandins. Prostaglandins normally protect the stomach (from acid). Thus, without them like in the case of chronic NSAID use, peptic ulcer Dz can form.
What does cerebral palsy mean?
That the baby didn’t get enough oxygen at some point.
Toxoplasmosis: can it be passed to a baby?
Yes, can result in still birth. OR if the baby survives, they will likely have a retinochoroditis in one eye. can result in a vitritis when pt turns 20.
TOXO - from cat litter (parasite)
Syphilis: if mom has it, it can be passed onto the baby.
What SE can it cause?
- CNS disorders
- Interstitial keratitis
Deafness and Hutchinson
If a pt comes in with congenital cataracts, what conditions do I need to think of?
- Rubella
- Galactosemia (too much galactose)
Rubella: if mom has it and it is passed to the baby, what ocular SE may result?
- Micropthalmia
- Glaucoma (probably due to the eye being so small)
- Cataracts
think of a small RUBY
If you don’t have enough folic acid what kind of anemia can you have?
Who?
Anemia with Increased MCV and decreased Hgb.
-pregnant women, alcoholics, dietary issues.
Neural tube defects are caused by a decrease in what?
Folic Acid
What are the ocular SE of Tamoxifen
“think of the C’s”
- Crystallin retinopathy
- Clots -> CRVO, BRVO
- Cornea -> Whorl Keratopathy
- Cataract- psc
- Cancer -> can cause uterine cancer.
What drug is used to treat breast cancer?
Tamoxifen
What is the #1 cause of cervical cancer?
HPV
Which hormones are involved in breast feeding?
- Oxytocin -> milk ejection (posterior pituitary )
- Prolactin -> milk production (anterior pituitary)
*there is a big push for breast feeding due to the immunoglobins
What are the lab tests for benign prostatic hypertrophy?
-PSA = prostate specific antigen
-Ocuvit (an ocular vitamin that can false elevate PSA)
What is the #1 cancer both M & F die from?
Lung cancer.
What is the #1 cancer in men?
1 cancer in women is breast cancer.
Prostate cancer
What is the ocular SE of alpha 2 blockers?
Think as sympathetic off switch for IOP, but is a sympathetic drug.
Normal functions of alpha 1 receptors is to Dilate the eye and Vasoconstrict blood vessels
Thus Alpha 2 BLOCKERs lead to:
-Miosis (FES)
-dilation of blood vessels (decrease blood pressure)
What class of drugs are used to Tx benign prostatic hypertrophy (BPH)?
-alpha 2 blockers
i.e. Flomax
These are the Zosin and Losin drugs
-Tamsulosin
-Prazosin
-Terazosin
What lab tests do you do with syphilis?
- RPR, VDRL (+ means they have Dz Right now)
- FTA-ABS or TPPA (+ means they have Hx of Dz. They are specific for the bacteria Treponema Pallidum)
- EIA, MFI, Syphilis IgG
- Neg. means you don’t have dz
+ Pos means you need to do all the above tests.
What other conditions can syphilis cause in the eye?
- Interstitial Keratitis (90%).
-Herpes can also cause this - Salt and Pepper Fundus
- Uveitis
- Cranial Nerve issues & optic neruopaties
- Chorioretinitis & Vitritis
- Agyll Roberson pupil
Syphilis tends to run in three phases what are they?
Stage 1: Chancre (painless ulcer). If Tx w/ PCN at this stage, they will not go onto stages 2 or 3
Stage 2: Mimic portion-can look like the flu, muscle aches, lesions in the eye. Eye and Kidney.
Latent
Stage 3: Nervous system and ophthalmic lesions. Argyl Robinson Pupil
What condition is associated with Treponema Pallidum?
Syphilis
-The great mimicker
How do we treat gonorrhea?
Cefriaxone (we AXE gonorrhea)
250mg IM in the body.
Plus: Azitro or Doxy for the chlamydia that often presents with it.
What STD commonly co-exists with Chlamydia?
Gonorrhea.
Which we has been pounded into our head as having acute mucopurulent discharge.
How do you treat Chlamydia?
Azithromycin
-1 gram, 1 time.
Alternative would be Doxy 100mg BIDx 10 days
What other ocular side effect do we think of when we see chlamydia?
LARge INFERIOR palpebral follicles
When we see chlamydia in the eye, does it produce acute or chronic red eye?
CHRONIC
CHlamydia = CHRonic red eye.
What is the #1 viral STD in the US?
HPV
What is the #1 Bacterial STD in the US?
Chlamydia.
What is Pyelonephritis?
Infection of the kidney
If a pt has nePHROtic, what will we see in the urine?
PROtein (greater than 3.5grams of protein)
What conditions are associated with NephrITIC syndrome?
- HTN
- Edema
- Hematura
- Blood casts
What are two types of glomerular disease?
- Nephritic Syndrome
- Nephrotic syndrome
What are the 2 things that cause chronic renal failure (which is more common)?
- Diabetes - sugar damages the filtration unit
- HTN - pressure damages the filtration unit
What 3 lab tests should we run when thinking about the renal system?
- BUN (High = Dz)
-blood ureic nitrogen - Creatine (> 1 = Renal Dz)
- Glomerulous Filtration rate. (low = Dz)
Every test is high in the case of Dz except GFR.
Which of the following complications is LEAST likely to occur due to diabetes mellitus?
Retinopathy
Uveitis
Cataracts
Glaucoma
Uveitis
What are the SE of a Pheochromocytoma?
“the P’s”
- high blood Pressure (HTN)
- heart Palpitations
- Pain (HA)
- Palor (pale)
- Perish (pt feels like they are doomed)
- Papilledema.
What ocular SE can occur if a pt has a Pheochromocytoma?
Papilledema
What is Pheochromocytoma?
Tumor that releases epi and norepinephrine.
TUMOR OF ADRENAL GLAND
What are the general side effects of too much steroid (cortisol)?
-Osteoprosis early in life
-HTN
-Fat redistribution
-Decrease healing time
-Cataracts
-Glaucoma
(too much sugar, hurts your bones, blood pressure, fat, decreases healing time, gets in the lens, and can cause glaucoma)
What signs are associated with Cushing’s syndrome?
Central obesity (steroids = sugar)
Moon face
Buffalo hump
What is Cushing’s syndrome?
Hypercortisolisum
too much steroid in the body. Majority of cases result from chronic prescribed corticosteroids.
What is Addison’s disease?
Autoimmune atrophy of the adrenal glands.
Tx: add more steroid (ADDison’s ADD more steroid)
What is the function of the Adrenal glands?
To secrete Adrenaline (steroids)
What is the most common cause of hypoparathyroidism?
You were hyperparathyroidism and had your thyroid removed and now you are hypo.
these pts will need to have calcium supplements.
What will happen if you have hypoparathyroid hormone?
Decrease parathyroid, decreases Ca in the blood will result in:
- Cataracts
- Conjunctivitis
- Blurry vision
- Decreased muscle contraction (tenty)
- UVEITIS
What will happen if you have hyperparathyroid?
Increase PTH, Increase calcium in the blood will result in:
- Renal/kidney stones
- Hurts bones
- Bother muscles.
- BAND KERATOPATHY
What is Parathyroids worst enemy?
Calcitonin (Calcitonin puts Ca+ into the bones)
What does the parathyroid do?
Releases Parathyroid hormone.
-PTH takes Ca+ from the bones and puts it in the bloodstream.
“maybe think PARAthyroid puts Calcium AROUND (PARA) the thyroid.”
Where is the Parathyroid located?
They are the little spots on the thyroid gland (on the bowtie)
What kind of diplopia is most likely to occur due to graves? (thyroid)
Horizontal or Vertical.
Vertical is affected first.
Grave’s disease can cause spontaneous diplopia. Which extraocular muscles is the most commonly affected in a patient afflicted with Grave’s disease?
Inferior rectus.
GRAVES DZ is HYPERTHYROIDISM.
IMSLO muscles most affected are inferior rectus, medial rectus.
What ocular SE do we think about with graves disease?
- Proptosis
- Upper lid retraction
- Superior Limbic Keratoconjunctivitis (SLK)
Think if you are hyper, you want to be looking around at everything (proptosis), you are excited so your lid is retracted. Then you get dry eye because you have been looking all over the place.
What is the #1 cause of hyperthyroidism?
Graves Disease.
-Graves is an autoimmune response.
What will blood tests reveal if a pt has hyperthyroidism?
- TSH will be low
- T4 will be high.
Name the condition:
Pt comes in who is extremely hyper, hair is falling out and pt is losing weight.
Hyperthyroidism.
What lab will be positive if a pt has Hashimotos?
+ANA
What is the most common condition causing hypothyroidism?
Hashimoto’s Thyroiditis.
-Hashimotos is an autoimmune dz that attacks the thyroid gland.
Where is the Thyroid gland located?
It is located in the front of the neck. It is the most anterior gland and looks like a bowtie.
What will a lab result for hypothyroidism look like?
The #1 test is TSH, it will be high
Low T3 and T4
Name the condition:
Pt comes in feeling tired and overweight.
Hypothyroidism.
When does a Type 2 diabetic individual need to have an eye exam?
-At the time of diagnosis! and every year after that.
(we don’t know how long they have had it for)
When does a Type 1 diabetic individual need to have an eye exam?
-within 5 years after diagnosis
How long does a Hemoglobin A1C monitor the glucose levels over?
3 months (90) days.
Normal is less than 7%
Name the condition:
A pt comes in saying they are thirsty, peeing a lot but we test their glucose and its normal.
Diabetes Insipidus (looks like diabetes but its not.)
-it is marked by extreme thirst and polyuria resulting from a lack of ADH.
-ADH’s job in the kidney is to go to the nephron and pull water out of it and put it in the body again.
-W/out ADH, your body can’t pull water out of the nephron when it is needed (when you are thirsty) and it will cause you to pee all the time.
Which one is more genetic, type 1 or type 2 diabetes?
Type 2
(even though you would think type 1)
Type 2 diabetic pt’s don’t get diabetes ketoacidosis.
What SE’s do type 2 pt’s get?
- Retinopathy
- Nephropathy
- Neuropathy
-unfortunately these will all occur at some point.
Name the condition.
“fluffy grandma comes in to check her sugar and it is 200. We ask, are you thirsty/peeing a lot? -no, not really…”
Type 2 diabetes. These pts don’t have a problem with insulin production but rather peripheral resistance.
What is one thing we worry about w/pt’s who have type 1 diabetes?
Diabetic Keroacidosis
-b/c the glucose is stuck in the blood their tissues don’t have any to use so the body starts breaking down other things for energy
-The body starts to break down proteins and fats and gets into a metabolic acidosis state. When this happens the brain stats to shut down and pts appear tired and sometimes act or look like they are drunk.
What are the 3 main functions of insulin?
- Store glucose in tissues
- Decrease hepatic glucose production.
- Decrease Lipolysis (decreases the breakdown of fat)
What is causing glucose levels to be sky high in pt’s with diabetes?
Their pancreas has stopped working. They have no beta cells left to produce insulin.
What tests would I run to check for diabetes? (what results would I suspect if they had diabetes)
1st check glucose levels.
-if pt had diabetes, I would expect them to be sky-high (500mg/dL).
-Normal glucose is 126.
Name the condition:
I’m thirsty all of the time and i’m peeing all the time and my stomach hurts”.
DIABETES
-one of the primary insults of diabetes is the eye.
Which of the following brain tumors may be associated with a junctional scotoma?
Glioblastoma multiforme
Meningioma
Schwannoma
Pituitary adenoma
Pituitary adenoma
Because junctional scotomas occur on one aspect of the chiasm
Junctional scotoma. The patient has a right central scotoma and superior temporal field defect in the left eye.
-Inferior fibers cross anteriorly in the chasm, causing a superior temporal field defect.
Which of the following conditions is LEAST likely to be associated with myasthenia gravis?
Thyroid disease
Rheumatoid arthritis
Thymoma
Ankylosing spondylitis
Ankylosing spondylitis
I have no idea why..
-MG is associated with thyroid dz (internet says so)
Review: which HA can cause horner’s like symptoms?
Cluster HA
What is another disease that causes anisocoria most prominent in the dark?
Syphilis
Horny and Syphilis are the two things that are worse in the dark.
When do you see anisocoria w/ Horners the most?
In the Dark (because the pupil will not dilate)
What condition causes a lesion around the superior cervical area?
What are the SE?
Carotid artery dissection
- Ptosis
- Miosis
- Anhydrosis of just the upper face (there is an extra lower branch of sweat fibers that can then innervate the lower face)
What condition commonly causes a sympathetic lesion at the 2nd location between the cilospinal center of budge and the superior cervical ganglion?
What will the Symptoms?
- Pancoast tumor.
All thee of the triad.
- Ptosis
- Miosis
- Anhydrosis
What symptoms will occur in the case of a horner’s that is due to a stroke in the brain?
All thee of the triad.
- Ptosis
- Miosis
- Anhydrosis
What conditions commonly cause sympathetic lesions btwn the hypothalamus and the cilio-spinal center of Budge?
Stroke
What is the classic sign with horner’s syndrome?
- Ptosis
- Miosis
- Anhydrosis
What symptoms should you watch with any head trauma?
- Changes in pupillary size (a blown pupil may signal an impending uncle herniation).
-this is why we use pen lights to look at eyes in the ER. - Nausea or vomiting
- Loss of consciousness
What drug may increase the occurrence of a subdural hematoma?
Warfarin i.e. Coumadin
What is the name for a condition in which venous blood collects between the dura and arachnoid space?
Subdural hematoma
What is the name for a condition in which blood collects between the skull and the dura?
Epidural Hematoma
Chart comparing Parkinson’s tremor versus Essential tremor
What are the ocular Signs associated with Parkinson’s?
- Blephrospasm (trying to compensate for dry eye caused by inability to blink properly)
- Chronic blepharitis
- Dry eyes
- Glabellar tap reflex (Myerson sign)- “tap forehead, if you do it long enough, a normal pt will stop reacting and no longer blink. A Parkinson’s pt cannot stop blinking if tapped on forehead”
- Reduce saccades & pursuits
- “Staring Look” “staring causes dry eye and blepharitis, blepharospasm is to combat the dry eye”
-Mask-Like Face
-Infrequent blinking
-Restricted vertical gaze w/ chin tuck
What are the symptoms/signs of too little dopamine?
“TRAP”
T- tremor at rest
R- Rigidity
A- Akinesia (difficulty starting mvmt)
P- Postural instability.
Is parkinson’s a tremor with movement or rest?
REST “a parked car”
-characterized by a pill rolling tremor.
-Cogwheel rigidity
Also lack of arm swinging on one side and stooped posture.
What are the dopamine agonist drugs?
“hey MAN, BRO, pass the METH & AMPHETAMINE”
- aMANtadine
- BROmocriptine
- METHylphenidate
- AMPHETAMINE
also levodopa or Carbidopa
What bucket are our parkinson’s drugs located in?
Bucket #3: Adrenergic Agonists.
-contains Alpha 1, Alpha 2, Beta 1, Beta 2 agonists as well as Dopamine Agonist drugs.
What is the name for abnormal aggregates of protein within nerve cells (essentially the lack of dopamine is replaced with protein in Parkinsons and that has a special name)
Lewy Body
Parkinson’s is caused by too little Dopamine.
What condition is characterized by too much dopamine?
Schizophrenia
What is Parkinson’s Caused by?
Decrease in Dopamine in the brain.
brain (Substania nigra, corpus striatum & basal ganglia which coordinate smooth & balanced muscle movement)
How does Alzheimer’s differ from vascular dementia?
Alzheimers results in a very gradual loss of memory whereas Vascular dementia is a very quick loss of memory.
Vascular dementia: small lacunar infarcts on vessels that slow signal to brain.
What is the MOA of Arecept?
Arecept is an AchE inhibitor which results in an increase in ACH in the body.
What are the three A’s when thinking about Alzheimer’s disease?
A -Amyloid protein deposits in the brain
A- age. Older pt’s get the Dz
A-Aricept. The drug used to Treat Alzheimers.
What protein deposit is in the brainleading to Alzheimers?
Beta Amyloid
What are the two ocular SE and systemic SE that usually present with MG?
- Diplopia
- Ptosis
at the ned of the day.
Pt’s alway have respiratory weaknessess.
What kind of tumor may MG patients get?
A Thymus Tumor
-Tumor Thymus (which is a gland that is suppose to go away as we age)
Myasthenia gravis is an autoimmune disease that affects which receptors in the body?
NICOTINIC acetylcholine receptors
Because… Muscarinic receptors are the ones located on SMOOTH muscles (Sphinctor, Ciliary, Lacrimal gland)
Nicotinic receptors are located on SKELETAL muscles (Levator, EOMS)
Ptosis and diplopia at the end of the Day.
Name the condition.
Myasthenia Gravis
What is the Prognosis for Guillain?
Most recover, 3% may die (Respiratory failure or Complications of care)
How do we Treat Guillian?
-Supportive therapy: Respiratory assistance or Plasmapheresis
What are the Ocular findings associated with Guillain?
“He holds in all of his P’s”
-Facial myokymia
-Palsies: Cranial nerve palsies in 50%: VI (abducens) and VII (facial) most common; III-V, IX-XII may be present
-Ptosis
-Pupils (tonic)
-Papilledema due to Proteins
What are the Systemic Findings associated with Guillain? (motor, sensory, autonomic)
Motor Dysfunction
-Symmetric limb weakness evolves over days to weeks
-Proximal lower extremity weakness ascends to involve upper extremities
-Lower extremity > trunk > intercostal > neck > cranial muscles [works its way from the bottom up]
Sensory Dysfunction: Paresthesia & pain generally begins in toes & fingertips
Autonomic Dysfunction
-Cardiovascular signs (tachycardia, bradycardia)
-Urinary retention & constipation
50% of Guillian-Barre syndrome follow onset of what?
viral or bacterial infection
-flu or URI
-Viral gastroenteritis
-Campylobacter Jejuni (from eating undercooked poultry)
-Small number of cases have been known to occur after a medical procedure, such as minor surgery (including epidural)
Memory trick for key findings of Guillian-Barre syndrome
Guillain’s Island - Man trying to survive, eats undercooked meat or from Jejuni Juice. He has trouble walking (works from the down up) and holds in his Pee so that he retains his fluids. He would like a Gin and Tonic (tonic pupils), he has salt in his system from salt water and gets papilledema.
What is Guillain-Barre syndrome?
It is kinda the opposite of MS. MS affects central nervous system and this condition affects peripheral nervous system.
Body’s immune system attacks part of peripheral nervous system (Schwann cell membranes)
-“MS attacks Oligodendrites affecting the CNS”
-Acute inflammatory demyelinating polyneuropathy resulting in acute ascending motor paralysis
T or F: if you have a later diagnosis you have a better prognosis.
-False! This is counterintuitive. Younger onset results in less damage from it.
Who gets MS more, males or females?
Who are more affected by the disease, males or females?
-Females get the disease more often.
-However, MS in a male has worse prognosis
What is Uhthoff’s Phenomenon?
Occurs with multiple sclerosis.
These pt’s report a decrease in VA with Increase in body temperature.
Think “Uhhh its hot in here” -Uhthoff’s phenomenon.
More symptoms of MS from Dr. H’s notes
- Oscillopsia, diplopia, gaze palsies
- Vertigo
- Trigeminal neuralgia
- Internuclear ophthalmoplegia, nystagmus
- Crossed motor/sensory syndromes
- Hemifacial spasm, continuous facial myokymia
- Ataxia, tremor, dysarthria
Sudden, non-progressive monocular Vision loss!
What percent of MS pt’s will get optic neuritis?
25%! (most common presenting symptom)
-Can have:
1. Pain on eye movements
2. Diplopia
3. APD
4. Internuclear ophthalmoplegia
a lot of pt’s with MS are going to have ocular issues so this is important to know
What is the MLF?
What nerves does it consist of?
It is a track that connects CN’s 3, 4, 6, 7.
CN’s 3 - 7 and then think “no high 5’s in the MLF”
Looks like it connects most of the midbrain and pons mostly.
Midbrain 3, 4
Pons 5, 6, 7, 8
Medula 9, 10, 11, 12
A lesion of the optic nerve may cause Internuclear Ophthalmoplegia.
What ocular effect will a lesion in the right MLF have?
-a lesion of the MLF
-Right MLF lesion will result in Right eye not being able to ADDuct and will result in nystagmus of Left eye bc it is able to look left but then sees double so it starts to shake.
How would optometrists be able to visualize the demyelination occurring in MS pt’s?
OCT will allow optometrists to be able to see thinning of the Ganglion cell layer and NFL
RPEOOIIGNI
What do you need to do in order to Dx MS?
Pt needs to have MRI done to diagnose
-Pt needs to have 2 separate lesions on two different occasions to be diagnosed.
-Lesions must be separated by time (a month or so apart) and space (in two different spots in the body or brain)
Is the demyelination with MS central or peripheral?
Central nervous system!
-Leads to ganglion cell destruction :(
MS occurs in northern latitude areas.
What is a possible association/etiology?
It is thought that it is due to a lack of vitamin. D in a mother during the winder time. Leading to female babies born in summer months that don’t have the Vit D they need later in life and presents with MS.
Tough set of symptoms, try to name the condition:
Pt is tired, doesn’t feel well, has problems with walking or bowel/bladder.
Multiple Sclerosis.
MS is super HIGH YIELD
What is the name of the cell in the central nervous system?
Oligodendrocytes
What is the name of the cell in the peripheral nervous system?
Schwann Cell
What will the pituitary gland secret in excess if it is enlarged?
PROLACTIN
-P rolatin produces milk. Pt may come in saying they have leaky breasts.
Pt comes in with Bitemporal Hemianopsia, what kind of tumor do we suspect?
Pituitary Adenoma
What is the most common benign brain tumor?
Meningioma
What is the most common Primary (starts in the brain) malignant brain cancer?
Glioblastoma multiforme
What is the Triad of Meningitis Symptoms?
- Fever
- HA
- Neck Stiffness
Name the condition:
Pt with Neck Stiffness + Papilledema.
Meningitis!
Pt needs to go to the hospital.
-Ocular manifestation of Meningitis is papilledema.
Which of the following is the GREATEST risk factor for a stroke?
Hypertension
Hyperlipidemia
Age
Family history
Hypertension
Which of the following types of visual field defects is LEAST suggestive of a stroke?
- Macular sparing homonymous hemianopsia
- Macula only homonymous hemianopsia
- Macula involved homonymous hemianopsia
- Macula only homonymous hemianopsia
B/c that would mean it only occured in the occipital lobe and no where else.
Which of the following headaches may cause an ipsilateral Horner’s syndrome?
Cluster
Migraine
Tension
Temporal arteritis
Cluster
What is a very Characteristic Symptom of a HA induced by a BRAIN TUMOR?
-They INTERRUPT SLEEP.
-IF you wake up each night with a HA and it is getting worse.
-Usually have a secondary condition with a brain tumor other than just the HA.
*i.e. can’t move part of the body.
Temporal Arteritis HA, pt’s will complain of HA on side of their head. Maybe some jaw claudication and so forth.
What tests will we run to R/O temporal arteritis?
- CRP
- ESR (sed rate)
- CBC
- Temporal artery biopsy.
Tx: steroids immediately.
How long do MIGRAINES last for?
4-72 hours.
-have triggers (don’t wake you up b/c need to have a trigger)
-can get aura beforehand
-Women greater then men
Easy question:
Why do tension HAs occur?
From tension
-Band distribution
i.e. after staring at a computer all day.
Memory trick to remember that Cluster HA’s can cause Horner’s like symptoms.
“Men who smoke and drink a lot get are Horny and Cluster messes”
Where are Cluster HAs located?
-Unilateral above the eye
-Can get IPSIlATERAL red eyes and/or nasal stuffiness and can cause a transient or permanent psi HORNER’S Syndrome.
When do CLUSTER HAs occur within a day?
Early morning.
Who gets CLUSTER HAs?
-Men (30-50)
-Smokers/drinkers at increased risk.
Headaches are a big deal for us because a lot of pts will come to use and want to know if the HA is eye related.
What are the 5 main types of HA’s?
- Cluster
- Tension
- Migraine
- Temporal Arteritis
- Brain Tumor
What is Syncope?
When you pass out but come back to quickly.
If we have a seizure lasting more than 5 mins what condition are we worried about?
Status Epilepticus.
MEDICAL EMERGENCY
Seizures can occur b/c of fever or lack of sleep.
When there are multiple seizure we worry about what condition?
Epilepsy (recurrent seizures)
If a stroke occurs and affects the anterior cerebral artery, which portion of head will it affect?
ANTERIOR CEREBRAL
Frontal Lobe
Hemorrhagic strokes usually occur due to an aneurysm in the brain, what is the most common location of the aneurism/stroke?
Posterior Communicating (within the circle of willis)
-the junction between the PCOM and the internal carotid.
-alos leads to a CN3 palsy and possibly a blown pupil because the fibers run there as well.
What is the #1 cause of a hemorrhage stroke?
SUBARACHNOID HEMORRHAGE
-this will cause pts to say, this is the worst HA of my life
The second kind of stroke (>24) hours is hemorrhagic stroke.
What is the etiology behind these bad boys?
-There is something like an aneurysm (thin balloon) that has burst and leads to blood flowing out of the vessel instead of reaching the target tissue. It is seeping out elsewhere, sot he target tissue is not getting enough oxygen and is dying.
What are the risk factors/causes for ischemic strokes?
- Diabetes
- Increased cholesterol
-A clot prevents blood flow and that prevents the connecting tissue from getting oxygen.
Which stroke is more common?
- Ischemic Stroke
- Hemorrhagic stroke
Ischemic Stroke BY FAR.
-80% of strokes are ischemic.
What are the two types of strokes?
- Ischemic Stroke
- Hemorrhagic stroke
What is the #1 risk factor for strokes?
HTN
Can think that if the vessels are clogged, the pressure of blood within them is going to rise resulting in HTN
How long do strokes last?
Strokes last longer than 24 hours and tend to stick around.
What is a stroke?
Some part of the brain not getting enough fluid/blood. Cells need the O2 from the blood.
What is a Hollenhorst plaque and what can it inform us about?
Hollenhorst plaque is a plaque from the carotid that breaks off and reaches the eye.
-it tells us that there are probably multiple other TIAs present in the body. These pts should be referred immediately.
How will the symptoms differ for a Carotid artery TIA versus a Vertibrobasilar TIA?
- Carotid artery TIA
-ipsi vision loss (amaurosis fugal) - Vertibrobasilar TIA
-diplopia, ataxia, vertigo, dysarthria.
-Unilateral or Bilateral VA loss
*more severe symptoms with vertibrobasilar because the vertebral artery comes up the back of the neck to the visual cortex.
What are the two different types of TIA?
- Carotid artery TIA
- Vertibrobasilar TIA
Pt comes in saying I couldn’t feel my arm for a couple of mins or I couldn’t see for a couple of mins.
What do you think happened to the pt?
They had a TIA (transient ischemic attack)
It is called transient because they last less than 24 hours.
Visual pathway
Which of the following systemic conditions is LEAST likely to result from atherosclerosis?
Myocardial infarction
Diabetes
Stroke
Congestive heart failure
Diabetes
What is the #1 cause of heart palpitations?
Premature Ventricular Complexes (PVCs)
Bacterial endocarditis, what is the ocular manifestation of it?
Roth Spot
embolis from the bacteria gets flicked off the heart valve, goes to the eye and causes a Roth spot.
-Leukemia can also cause Roth spots.
What hypersensitivity reaction is Rheumatic fever?
what bacteria is associated with it?
- Cytotoxic - Type 2 hypersensitivity reaction: IgG and IgM
- Strep comes in and lands on the heart valve
What lab can be done to test for Congestive Heart Failure?
BNP = too much fluid
-can also do an echocardiogram.
What are risk factors for congestive heart failure?
#1 is heart attack
-smoking is another one
-COPD
-Pulmonary HTN
What drugs are associated with Heart Failure?
Digoxine
-I have a NaK for getting digits. These same channels are located in the heart and can affect contractility.
What are the SE of a right side heart failure?
Edema in legs and abdomen.
“The problem is with fluid in the rest of the body BECAUSE no blood is able to then get into the Right atrium and fluid gets backed up outside of the heart”
What is the #1 cause of Right sided heart failure?
Left sided heart failure.
(think the Left side is usually the problem. It is also the side that leads to the whole body and in my mind it has to do the most work).
What are the SE of left sided heart failure?
- Fluid in the lungs
- Shortness of breath
“the problem is with the lungs BECAUSE the fluid is accumulating in the lungs… makes sense”
-Dyspnea on exertion
What usually causes Left heart failure?
-Heart Attack
-this kills the cells on the left side of the heart and prevents it from pumping blood into the body. This blood sits in the left portion of the heart and causes blood to get backed up in the lungs.
What do the sounds LUB, DUB indicate?
LUB: closing of Tricuspid and Bicuspid
DUB: closing of the pulmonary valves
What is the pathway of blood through the heart?
- Right atrium -> Tricuspid -> Right Ventrical -> Pulmonary artery -> Lung -> Pulmonary vein -> Left Atrium -> Bicuspid (Mitral) -> Left ventricle
What treatments do we have for HTN? (4 drug classes)
- ACE inhibitors
- Diuretics
- Beta Blockers
- Calcium channel blockers
What are some risk factors for HTN? (4)
- Age
- Race (African Americans are most likely, asians are least likely)
- Diabetes
- Smoking
What is pre-hypertension?
-Do you treat?
120-139
don’t treat.
What is the % chance of you having HTN if you are 70 years old?
75%.
If a clot breaks off in the Carotid artery, where will it go to?
The brain - STROKE
What are some characteristics of Carotid artery disease?
-Artery in your neck
-Plaque = decrease volume and Increase velocity of blood.
How can too much cholesterol manifest in the eye?
Cornea arcus in a younger person.
Review for incase I am given a panel of lab values.
What should the Total cholesterol be?
Less than 200.
What is the rule of 50’s for Cholesterol?
Rule of 50’s
HDL, want it to be > 50
LDL, want it to be less than 130
Triglycerides, want to be less than 150
Total cholesterol, want to be less than 200
What would the 4 best things to give a pt is they are having a Heart Attack?
“MOAN”
- Morphine
- Oxygen
- Nitroglycerine
- Aspirin
If someone has Chest pains who is sitting in my chair, how much aspirin should I give them?
325mg.
What should pt’s over 50 take to help prevent a Heart attack?
A baby aspirin (81mg)
-remember that children under the age of 11 CANNOT have aspirin so we shouldn’t call it baby aspirin.
What are the risk factors for atherosclerosis?
- Over 50y.o.
- Family Hx
- Increase cholesterol
What does Atherosclerosis form from?
It originals starts as a fat plaque, this leads to inflammation at the site and then the body comes in to try and heal it and macrophages and platelets come to the ‘rescue’ but end up actually walling off the vessel more leading to a heart attack.
Which one of the following conditions causes inflammatory edema?
Congestive heart failure
Malnutrition
Neoplasm
Angiogenesis
Angiogenesis
An arterial thrombosis is LEAST likely to embolize to which of the following organs?
Heart
Brain
Kidneys
Spleen
Heart
What is an aneurysm?
a blood vessel that gets too big.
-An aneurysm is when the balloon enlarges in an area causes by a weakening of the artery wall. Can lead to a rupture.
Aneurysms are associated with Marfan Syndrome patients also
What are the four different kinds of shock?
- Cardiogenic - heart stops (Heart attack)
- Hypovolemic - not enough blood in the body to get to all the organs (large bleed or lots of diarrhea)
- Septic - Infected with bacteria.
- Anaphylactic
decrease blood volume leading to shock
Why does shock occur in the context of a cardiovascular issue?
Organs are not getting enough fluid.
Thrombus is the cause for 95% of emboli.
What are the other major causes?
“FAT BAT”
F- fractures in long bones can send fat clots up
A- Air: pneumophilax
T- Thrombus
B- bacteria. Endocarditis in the heart. vAlves flip up the bacteria
A- amniotic fluid 0> after a women gives birth, can have amniotic clot that forms
T- tumor (cancer)
If we see a young pt come in with a BRVO, what do we likely think it is due to if it is a Girl?
how about for a boy?
Girl -> Oral contraceptives
Boy -> Alteration in blood like protein C or S deficiency
If you have a blood clot in the artery that breaks off, where does it go?
To the brain and causes a stroke :(
Arteries -> brain (stroke)
If you have a blood clot in the veins that breaks off (embolis), where does it go?
through the heart and land in the lungs. (pulmonary Embolism)
Veins -> Lungs
Where do blood clots usually form?
Deep Veins System (legs)
-rare to occur in arteritis b/c there is a lot of pressure there. Doesn’t have a chance to sit and swirl.
What are the three reasons for blood clots?
Virchow’s Triad:
1. Stasis - basically blood is not flowing so it stays there and swirls. Swirling blood = clotting blood.
2. Injury to endothelial wall - blood will clot to stop from bleeding
3. Alterations in BLOOD
a. Protein C or S deficiency
b. Factor 5
c. Acquired reason for Alteration in blood -> oral kckontra
ceptive use (increase risk of blood clot)
Note: Birth Control + Smoking (increase risk of blood clot)
What is the term for a blood clot that stays put?
Thrombosis
What cell is damaged in the case of diabetic macular edema?
Pericytes.
The pericytes line the blood vessels and when the are damaged, blood and fluid will leak out.
What is an example of non-inflammatory Edema?
- Increase organ pressure (CHF- Fluid will back up in the lungs b/c it can’t be pumped elsewhere)
- Decrease plasma oncotic pressure (edema post surgery)
- Lymph obstruction (Lymph nodes removed)
- Sodium retention (eating a lot of salty chinese food)
Candle wax dropping and dilation of vessels with fluid leaking out would be which kind of inflammation?
-Protein poor or rich?
Protein rich.
What is the difference between non-inflammatory edema and Inflammatory edema?
- Non-inflammatory edema: protein poor, Transudative fluid.
“someone who translates from place to place is often poor - transudative -> protein poor” - Inflammatory edema: Rich with protein, Exudative fluid.
“An exudative person is someone who would be rich”
What do each mean?
- leukopenia
- Leukocytosis
- Neutrophilia
- Thrombocytosis
- Pancytopenia
- Thrombocytopenia
- Decrease leukocytes (WBC)
- Increase leukocytes (WBC)
- Increase neutrophils
- Increase thrombocytes (platelets)
- Decrease in all cells (RBC, WBC, platelets)
- Decrease thrombocytes (Platelets)
What does the root ‘philia’ mean?
Increase number
What does the root ‘Cytosis’ mean?
Increase cell number
What does the root ‘Penia’ mean?
Decrease cell number
All of the following medications may cause aplastic anemia EXCEPT:
methazolamide
tetracycline
acetazolamide
chloramphenicol
tetracycline
Think hard…..
What retinal condition can occur due to Leukemia?
ROTH SPOT
-a retinal hemorrhage w/a white spot in the middle. (the white is cotton wool spot)
-Endocarditis can also cause a ROTH spot
CHRONIC Leukemia typically occurs in older pt’s.
What is the main problem with white blood cells in this case?
There are too many white blood cells.
Normal WBC count is 10,000.
These pts have 100,000.
T or F: ACUTE Leukemia typically occurs in older pt’s
FALSE
-“Acute, think kids are cute”
-Problem with BLAST cells which are the baby cells that should not be in the blood but are present there.
What are the two subcategories under CHRONIC Leukemia?
- Chronic Myelocytic Leukemia (CML)
-“C Me Later (CML) in PHILLY”
-Poor outcome, super high WBC count. - Chronic Lymphocytic Leukemia (CLL)
-More common, better outcome.
What two subcategories are under ACUTE Leukemia?
- Acute Myeloblastic (AML) - “Acute Mean Auer Rod”. Poor outcome.
- Acute Lymphoblastic Leukemia (ALL)
-“All kids survive, good outcome”
Which conditions have a worse outcome:
Lymphocytic or Myeloblastic?
Myeloblastic have BAD outcomes :( “mean conditions, bad outcomes”
-Each Myelo condition has its own characteristic cell to tell that it is bad. Review:
1. Auer Rod -AML
2. Philadelphia -CML
-Lymphocytic have good outcomes :)
Another difficult question:
Which conditions has a Philadelphia chromosome?
Chronic Myelocytic Leukemia (CML)
Difficult question:
What condition has Auer Rod cells?
Acute Myeloblastic Leukemia (AML)
What two non-unique cells are associated with non-Hodgkin Lyphoma?
T or B cell.
What virus is associated with Hodgkin lymphoma?
Ebstein Barr.
“Hedgehogs REEDS so he can pass the BARR exam” He will be a very studious lawyer.
What very unique cell is present in Hodgkin lymphoma?
Reed Sternberg Cell
“Hedgehog REEDS”
what are the two different categories of Lymphomas?
- Hodgkins (40%)
- Non-Hodgkins (60%)
We just got done talking about RED blood cells and now we are going to go onto WHITE blood cells.
Name the condition:
Cancer of Lymph tissue. Pt commonly has fevers at night and have a large lymph node.
Lymphoma.
-will result in enlarged lymph nodes.
Name the condition:
A cancer of plasma cells.
Multiple Myeloma (low yield)
-occurs in the bone marrow and results in immature plasma cells.
-Extra Ca is produced which is hard on Kidney’s.
What is the function of Vitamin B12?
Allow your body to to make RED blood cells!
Therefore, if you have any problem with your Parietal cells or a Deficiency of B12, you cannot make red blood cells correctly and will develop Anemia.
What is the function of intrinsic factor?
To allow for ABSORPTION of VITAMIN B12
What are the two functions of Parietal cells?
Parietal cells secrete:
1. HCL
2. Intrinsic factor
B12
Which two Anemias have Large MCV?
- Vit B12 deficiency
- Decrease Folic acid
“lacking dietary substances leads to larger cells”
What two dietary supplements are needed to make Red Blood Cells?
- Vit B12
- Folic acid
Which two Anemias have Normal MCV?
- Sickle cell (abnormal shape, but normal size)
- Anemia of Chronic dz
-old age,
-HTN, Diabetes
Which 4 drugs can cause aplastic anemia?
“these Drugs IMPACT your bones”
“METH Treats Marrow Poorly”
- D-Diamox
- I-
- M-METHotrexate, Methazolamide
- P-Pyridimine
- A-Azetazolamide (CAI)
- C-Chloramphenicol (the eye drop that can cause aplastic anemia)
- T-TriMETHoprim
Condition that can cause aplastic Anemia: Multiple Myeloma
Which two types of Anemias are under the decreased MCV category?
- Iron Deficiency anemia (50% of all anemias)
- Aplastic Anemia
A rare one is Thalassemias: condition that prevents the formation of Hemoglobin.
What is the second test we do or look at to determine the TYPE of ANEMIA?
Mean corpuscular volume
There are three groups of Anemias. Ones with:
1. Decreased MCV (small blood cells)
2. Normal MCV
3. Large MCV (large size)
Each class has two types of anemia within.
What is the first test we do if we suspect ANEMIA?
-what would we expect in the case of anemia?
CBC
-it will let us know the Hemoglobin count. Anemia will result in decreased Hemoglobin
Which of the following 3 ocular manifestations are associated with Marfan’s syndrome?
Keratoconus
Glaucoma
Retinal detachment
Strabismus
Lens subluxation
Congenital cataracts
Keratoconus
Retinal detachment
Lens subluxation
Leber’s Optic Neuropathy:
Do pts lose peripheral or central vision?
Central Vision.
What 2 medications can cause a blue sclera?
- Minocycline
- Steroids
Name the condition:
Condition characterized by abnormal type 1 collagen synthesis. Can cause blue sclera, KCN, and Megalocornea.
OSTEOGENESIS IMPERFECTA (brittle bone dz)
4 spots of type 1 collagen:
1. Bowmans -> KCN (TDOME)
2. Bones -> Brittle bones
3. Stroma -> Megalocornea
4. Sclera -> Blue sclera
Name this tough condition.
Kids that are tired and don’t want to walk.
Duchenne Muscular dystrophy
-caused by the gene encoding dystrophin.
Name the condition:
Lipid disorder that causes telangectasia in the belly button or on the elbow and whorl keratopathy in boys.
FABRY’s Disease.
The only systemic dz to cause whorl keratopathy.
Name the condition:
Neurodegenerative Dz that causes Seizures and a cherry red spot
Tay-Sach’s disease.
Two conditions that causes cherry red spot
1. Tay-Sach’s
2. CRAO
What conditions can cause a Tractional RD?
D- Diabetes
R- retinopathy of prematurity
S- Sickle cell
How does sickle cell affect the eye?
- SEA fan retinopathy
-Get extra vessels growing into the vitreous to give the tissue O2 (b/c other vessels are clotted). - Tractional RD
-The vitreous pulls on the neo and can cause a tractional RD.
Why is billirubin elevated in Sickle Cell pt’s?
Our bodies recognize that the sickle cells are abnormal send macrophages to break them down.
the products produced from the breakdown of sickle cells by macrophages is HEME BILLIRUBIN.
The heme & Billi is processed in the liver so soon the liver is overworked and won’t be able to put all the bilirubin into bile. So we look for excess bilirubin in the blood to determine if a pt has sickle cells. Will cause Jaundice.
What tests will help us Dx Sickle cells?
- Decrease Hemoglobin
- Normal Mean Corpusule volume (MCV, normal size even though the shape is weird)
- Increase in Reticulocytes (increases in new baby blood cells being produced by bone marrow)
- Increase Billirubin (Jaundice)
- Blod smear - can see the sickle cells
What condition is caused by a DNA issue that switches a G (glutamic acid) to a V (valine) in a Red blood cell?
Sickle Cell
Commonly think of AAs having sickle cells.
Autosomal Recessive Disorders.
How does the inheritance pattern work for these conditions?
Name 3 AR Diseases:
Both mom and dad have to be carriers for it to be present in a child and there is still then only a 25% chance of the child having it.
These are usually pretty severe and show up right after birth.
3: Sickle Cell, PKU, Tay Sachs
Are CHRPE’s hyperplasia or hypertrophy?
Hypertrophy (increased size)
(not increased # hyperplasia)
If a pt has 4 or more CHRPEs what are we concerned about?
Colon Cancer!
4 or more CHRPEs is referred to as bear tracks. This is indicative of Gardener’s Syndrome which is a variant of Familial Adenomatous Polyposis
*100% of these patients with FAP get colon cancer :(
-Autosomal DOMINANT
Name the condition:
Slow body movements as well as slow eye movements.
Problems with:
-Pursuits
-Voluntary Saccades
-Refixation
Huntington’s Chorea
“think while HUNGTING you need to make very slow movements to not startle the deer”
*Autosomal DOMINANT
What ocular condition is Autosomal Dominant?
BEST’S disease
What condition causes the lens to sublux down?
Homocystinuria.
