Station 5 Flashcards
Signs of optic atrophy
- RAPD (constricts when shine light to normal pupil, dilates when shine light on abnormal pupil)
Signs of causes
- Cupping of disc: glaucoma
- Retinitis pigmentosa
- Central retinal artery occlusion: cherry red macula + milky fundus
- Foster-Kennedy syndrome (frontal tumour): optic atrophy in one eye = tumour compression; papilloedema in other eye = raised ICP)
Causes of absent red reflex
Red reflex = reflection of light from back of eye
Absent = opacity in ocular media (cornea, lens, aqueous and vitreous humour)
- Cataract
- Vitreous haemorrhage
Acronym for which lobe corresponds to which quadrantopia
PITS
- Parietal inferior
- Temporal superior
An important cause of absent pupillary response
- Glass eye!
Causes of sudden vision loss
Will always be vascular or trauma
- Vitreous haemorrhage
- Retinal artery occlusion
- Retinal vein occlusion
- Haemorrhagic (‘wet’) age-related macular degeneration
- Stroke
Causes of altitudinal visual field defect (upper/lower visual field loss)
- Branch retinal artery occlusion
- Anterior ischaemic optic neuropathy
Causes of vitreous haemorrhage
Bleeding into vitreous (clear jelly between retina and lens)
- Diabetic retinopathy = most common
- Trauma
- Retinal detachment
Features of vitreous haemorrhage
- Sudden vision loss
- Cobwebs in vision
- Absent red reflex
- Photopsia (bright lights in peripheral vision)
Pathogenesis of diabetic retinopathy
- Vascular occlusion –> VEGF release –> new vessels
Diabetic retinopathy and pregnancy
- Progresses rapidly in pregnancy
- Diabetic pregnant ladies need to be reviewed once a trimester for retinopathy
Stages of diabetic retinopathy
Mild/moderate non-proliferative = background retinopathy:
- Microaneurysms (dots)
- Blot haemorrhages
Severe/very severe non-proliferative = pre-proliferative
- Cotton wool spots (infarcts)
- Venous dilation/beading
- Intraretinal microvascular abnormalities (IRMA) = branching/dilation of existing vessels in retina
Proliferative retinopathy
- New vessels
Treatment for diabetic retinopathy
- Mild/moderate: annual Diabetic Retinopathy Screening Service
- Pre-proliferative/maculopathy: Ophthalm referral within 3months
- Proliferate: Ophthalm referral within 2weeks
- Pan-retinal photocoagulation (lasers applied to 4 quadrants of retina)
- Do as many sessions until new vessels start to regress
- Side effects: reduced night vision/visual field loss
Pathogenesis of diabetic maculopathy
- Oedema from leaking capillaries
- And/or ischaemia due to capillary loss
Features of diabetic maculopathy
- Central vision loss (due to macular oedema)
Indications for laser treatment in diabetic maculopathy
- Retinal thickening within 500μm of fovea (centre of macula)
- Exudates within 500 μm of the fovea, if associated with adjacent retina thickening
- Retinal thickening >1 disc area, any part of which is within 1 disc diameter of the fovea
(won’t be expected to detect retinal thickening in exam!)
Features and inheritance mode of retinitis pigmentosa
- Age 10-30, symptoms progress over years–> registered blind by 40s
- Night vision loss
- Peripheral vision loss
- Severe: central vision and colour vision loss
Can be many different modes of inheritance so ask for family history (usually autosomal recessive)
Loss of peripheral vision vs loss of central vision
Peripheral vision loss
- Retinitis pigmentosa (constricted fields)
- Glaucoma (constricted)
- Laser photocoagulation (constricted)
- Ischaemic optic neuropathy (unilateral)
- Stroke (homonymous)
Central vision loss
- Diabetic maculopathy
- Age-related macular degeneration
- Optic neuropathy (demyelinating/nutritional)
- Cataract
Syndromes associated with retinitis pigmentosa
- Usher syndrome: sensorineural deafness = most common
- Alport Syndrome: abnormal glomerular basement membrane–> nephrotic syndrome (defect in collagen)
- Kearns–Sayre syndrome (mitochondrial disease): progressive ophthalmoplegia, cardiac conduction defect (PACEMAKER)
- Refsum disease (excess phytanic acid): scaly skin, cerebellar ataxia, peripheral neuropathy, cardiomyopathy
Investigations for retinitis pigmentosa
- Automated perimetry (visual fields)
- Electroretinogram: reduced amplitude
- Optical coherence tomography: retinal atrophy
- Genetic analysis: especially X-linked recessive
Management of retinitis pigmentosa
- Mainly supportive: register as blind to get benefits/reduced TFL costs
- Luxturna = gene therapy for biallelic RPE65 mutations
- Vitamin A may slow progression
Mitochondrial inheritance comes from which parent
- Mother as all mitochondrial in embryo come from the egg
Features of optic atrophy
- PAINLESS loss of central vision
- RAPD
- 3rd nerve palsy (inflammatory/compressive affects CNIII)
- INO if MS
- Speed of progression depends on cause
Causes of optic atrophy
Sudden = ischaemic
- Embolic
- Giant Cell Arteritis!!
Subacute = demyelination
- MS
- Neuromyelitis optica
Gradual
- Compressive tumour: optic nerve glioma, frontal meningioma (at anterior cranial fossa), pituitary macroadenoma (compresses optic chiasm)
- Nutritional: B12, alcohol
Investigations for optic atrophy
- Visual-evoked potentials: assess optic nerve function and differentiate from retinal disease (evoked potentials will be delayed and reduced amplitude)
- Automated perimetry
- CT brain + orbits with contrast
Management of optic neuropathy
- Steroids in ARTERTIC anterior ischaemic optic neuropathy i.e. GCA (prevents further vascular occlusions)
- Steroids speed up recovery in optic neuritis but not overall prognosis
Risk factors for thyroid eye disease
Autoimmune inflammation of the extra-ocular muscles and
retro-orbital fat
- Autoimmune thyroid disease
- Female middle-aged
- Smoking
Features of thyroid eye diseases
- Lid lag when looking down
- Proptosis (examine from above)
- Unilateral progressive vision loss = optic nerve compression
- Diplopia
- Signs of thyroid: goitre, thyroid acropatchy, pretibial myxoedema
RED FLAGS
- Optic atrophy due to compression (RAPD, pale disc)
- Corneal exposure during blinking
Investigations for thyroid eye disease
- CT orbits: bone resolution (plan decompression); MRI orbits: soft tissue
- Thyroid investigations including antibodies
Thyroid disease antibodies
- Anti-TSH receptor = Graves
- Anti-thyroid peroxidase = Hashimoto’s (and Graves)
- Anti-thyroglobulin = Hashimoto’s (and Graves)
Management of thyroid eye disease
Stable signs
- Artificial tears (methylcellulose eye drops)
- Stop smoking
- Optimise thyroid status
- “Burns out” in 1-5yrs, when can have surgery for cosmetic reasons
Optic nerve compression or corneal exposure = emergency
- Steroids +/- orbital radiotherapy
- Surgical decompression of orbital apex if steroids fail
Causes of bitemporal hemianopia
Optic chiasm compression
- Pituitary adenoma = starts from above as compresses inferior chiasmal fibres first
- Craniopharyngioma = starts from below as compresses superior chiasmal fibres first
- Meningioma
Non-chiasmal compression
- Tilted optical discs (nerve enters eye obliquely)
- Nasal retinitis pigmentosa
Symptoms associated with bitemporal hemianopia
Pressure effects
- Headache
- Diplopia (pressure on CN III, IV, VI)
Hypopituitarism
GH-secreting tumour
Prolactinoma
Symptoms of hypopituitarism
- Hypothyroid
- Reduced FSH/LH: reduced libido, erectile dysfunction, reduced menses.
- Reduced ACTH: tiredness, depression, abdominal pain
- Reduced GH: dry wrinkly skin, reduced well-being.
Symptoms of prolactinoma
- Men: galactorrhoea, reduced libido, erectile dysfunction
- Women: galactorrhoea, reduced libido/menses
Investigations for bitemporal hemianopia
- MRI pituitary fossa
- Endocrine: IGF-1 (high in acromegaly), LS/FSH, ACTH, TFTs
Management of optic chiasm tumour
- Transphenoidal surgery (transfrontal if suprasellar extension)
- Radiotherapy if residual tumour
Cause of macula sparing homonymous hemianopia (central vision intact)
- Occipital lobe lesion (because macula supplied by PCA and MCA so PCA lesion still means MCA working!)
Features of retinal artery occlusion
- Optic atrophy–> sudden blind
- Branch retinal artery occlusion = visual field defect opposite to affected quadrant
Causes of retinal artery occlusion
Embolic
- Carotid plaque
- Mural thrombus
Arteritis = GCA
- Tender scalp and pulseless temporal arteries
Causes of retinal vein occlusion
4 H’s
- HTN
- Hyperglycaemia (diabetes)
- High intraocular pressure (glaucoma)
- Hyperviscosity (myeloma)
Management of retinal vein occlusion
- Usually observe and manage risk factors
- Macular oedema: intravitreal VEGF inhibitor
- Neovascularisation: retinal photocoagulation
Pre-pregnancy counselling in diabetic women
- HbA1c <7.0% for 3 months pre-conception
- Folic acid 5mg (continue until 12 weeks pregnant)
- Stop ACEi and statins
Management of diabetic foot
MDT approach!!!
- “Offloading” pressure: non-removable cast walkers (uninfected/non-ischaemic)
- Debridement of slough/necrotic/callus (TVN)
- non-adherent dressings covered with a layer of gauze (maintain moist environment)
- Fluclox + metronidazole (covers anaerobes)
Different types of neuropathy in diabetes
- Progressive sensory
- Mononeuritis e.g. cranial nerves
- Pressure palsies e.g. carpal tunnel syndrome
- Amyotrophic
- Autonomic.
Causes of hyperthyroidism
2 most common:
- Graves: eye disease and hx of autoimmune
- Toxic multinodular goitre
Also
- Viral thyroiditis: neck pain/recent child-birth
- Drugs: iodine, amiodarone, lithium, contrast
- Gestational
Management of hyperthyroidism
Drugs
- Titration: carbimazole 30mg tapered over 8 weeks to 5-10mg
- Block and replace: carbimazole 40mg until T4 low (after 6-8weeks), then add levothyroxine 100mcg
- Each lasts 18months
- 50% relapse rate in Graves
- Also: non-selective beta-blockers (propranolol- avoid in asthma/COPD)
Radio-iodide
- More than 1 dose likely needed
- Complications: long-term hypothyroidism and worsens thyroid eye disease (/can cause thyroid eye disease)
- Can use in mild eye disease with steroid cover afterwards
Surgical = thyroidectomy
- Complications: hypothyroidism, hoarse voice (laryngeal nerve) and parathyroid damage
Important complications of carbimazole
- Rash (10%)
- Agranulocytosis (0.5%)– stop immediately if mouth ulcers and check neutrophils
Thyroid uptake scan results
High uptake = more uptake than surrounding thyroid tissue
- Graves: diffuse
- Toxic multinodular goitre: focal
- Toxic adenoma: focal
Low uptake
- Non-functioning nodules = 10% are malignant (hot nodules never are)
- Thyroiditis
- Drug-induced
Management of toxic multinodular goitre
- Radio-iodide (may cause enlargement briefly first!)
- Surgery if compressive symptoms (dysphagia/stridor)
(- Meds don’t work! If not candidate for above, can give low-dose levothyroxine to suppress TSH but not really effective!)
Causes of hypothyroidism
- Autoimmune (Hashimoto’s) = most common in UK
- Thyroiditis (post-hyperthyroid stage)
- Iatrogenic: post-ablation/thyroidectomy
- Drugs: amiodarone/litium/carbimazole!
Implications of pregnancy on hypothyroidism
- Levothyroxine doses increase by 25-50%
- Check TSH every trimester (aim 0.5–2.0mU/L.)
Features of myxoedema coma
Hypothyroid emergency (long-term undiagnosed hypothyroidism or insult e.g. MI)
- Bradycardia
- Hypothermia
- Reduced GCS
- Cardiogenic shock
Important differential diagnosis for hypothyrodism
- Addison’s (can co-exist!
–> giving levothyroxine in undiagnosed Addison’s may cause Addisonian crisis (enhances cortisol clearance)
Signs of active disease in acromegaly
- Sweating
- HTN
- Peripheral oedema
- Skin tags = skin growth
Important co-existing condition in acromegaly
Hypopituitarism
- T4
- LH, FSH and testosterone/oestradiol
- Short Synacthen, cortisol, ACTH
Investigations in acromegaly
- OGTT: growth hormone does not suppress <2nmol/L
- IGF-1: disease progression
- MRI pituitary
- Automated perimetry (visual fields)
Management of acromegaly
- Trans-sphenoidal surgery = 1st line
- Radiotherapy
- Drugs
— somatostatin analogue (octreotide) reduces GH secretion
— Dopamine agonists (bromocriptine)
— GH receptor antagonists (Pegvisomant)
Features of each Multiple Endocrine Neoplasia
- MEN1 = 3P = pit, para, panc
- MEN2a = 2P 1M = PTH, phaeo, medullary cancer
- MEN2b = 1P 2M = phaeo, marfan’s, medullary cancer
Complications of pituitary surgery
- Diabetes insipidus (may be transient)
- SIADH (may be transient)
- Hypopituitarism
- CSF leak
Investigations for Addison’s Disease
Short Synacthen test
- 250mcg tetracotaside
- Check cortisol before, 30mins, 60mins
- Normal: basal cortisol in the reference range, a cortisol rise
of >170nmol above the basal result and/or a peak cortisol > 530nmol/L
ACTH: raised in primary hypoalderstonism
CT adrenals
Management of Addison’s Disease
- Hydrocortisone 20mg AM, 10mg night
- Fludrocortisone 100mcg (for postural hypotension)
- DHEA for post-menopausal women with low libido
- Double dose when unwell
- Medic alert bracelet
Management of Addisonian Crisis
- IV hydrocortisone: 100mg STAT –> 50mg QDS
- IV fluids
Types of Polyglandular Autoimmune Syndromes
Type 1 (AIRE mutation)
- Addison’s
- Hypoparathyroid
- Mild immune deficiency (candida)
Type 2
- Addison’s
- T1DM
- Thyroid disease
Nelson’s Syndrome
- Bilateral adrenalectomy –> lots of ACTH (negative feedback) –> rapid enlargement pituitary microadenoma –> compress optic chiasm
Investigations for Cushing’s Syndrome
- Pregnancy test!!!
- Low-dose dexamethasone suppression test (1mg at midnight –> 0900 cortisol >50nmol/L is Cushing’s): normal in pseudo-Cushing’s
- Midnight salivary cortisol
- 24hr urine cortisol (ideally 3x)
If positive:
- ACTH: inappropriately normal/elevated in pituitary and ectopic Cushing’s
- High-dose dexamethasone suppression test (2mg QDS for 2 days – measure cortisol at 0hrs and 48hrs)- suppressed is pituitary Cushing’s, not suppressed is ectopic ACTH
- Adrenal CT: may find incidentaloma
- MRI pituitary
- Bilateral inferior petrosal sinus sampling (if nothing seen on MRI pituitary)
Management of Cushing’s Syndrome
- Metyrapone while await definitive treatment (blocks 11b-hydroxylase = involved in steroid metabolism)
Pituitary Cushing’s
- Transphenoidal resection +/- radiotherapy
Adrenal Cushing’s
- Adrenalectomy
- Ketoconazole/metyrapone
Differentiate pseudo-Cushing’s from Cushing’s
Low-dose dexamethasone suppression test then CRH test
- Cortisol not increased in pseudo-Cushing’s but is increased in Cushing’s (as dexamethasone suppresses ACTH greater in pseudo-Cushing’s vs Cushing’s)
Causes of Cushing’s
Pituitary adenoma
Adrenal
- Adenoma
- Hyperplasia
- Carcinoma
Ectopic
- Small cell lung cancer
Exogenous
- Steroids
Cause of Klinefelter’s Syndrome
- 47 XXY (could also be XXXY or XYY)
Features of Klinefelter’s Syndrome
- Infertility (leading cause in men!)
- Gynaecomastia + breast tenderness
- Hypogonadism: erectile dysfunction, low body hair, small testes, fatigue
Causes of male infertility
- Klinefelter’s
- Kallman’s: can’t smell
- Haemachromatosis: joint pain, tanning, diabetes
- Fragile X: low IQ
Investigations for Klinefelter’s
- High FH/LSH, low testosterone
- Karyotype (XXY)
- Bone mineral density
Management of Klinefelter’s
- IM testosterone every 3 months (does not help with fertility!)
- Fertility assistance
- Cosmetic surgery for gynaecomastia
Diagnostic criteria in PCOS
Rotterdam criteria = 2 of:
- Amenorrhoea (no period in 3months if usually regular, or 6months if usually irregular)
- Hyperandrogenism (acne, hirsutism, male-pattern baldness)
- Polycystic ovaries seen on USS
Differential diagnosis for PCOS
- Congenital adrenal hyperplasia (high 17-hydroxyprogesterone)
- Androgen-secreting tumour (very high testosterone)
Cause of Turner Syndrome
- 45X (missing X chromosome in girl)
Complications of Turner Syndrome
Cardio
- Bicuspid aortic valve
- Aortic dissection
- HTN
Renal
- Horseshoe kidney
Gastro
- Coeliac
- Angiodysplasia
Management of Turner Syndrome
- Growth: recombinant growth hormone until growth <2cm/year
- Pubertal delay: low-dose oestrogen + cyclical progesterone
- Once cyclical periods induced: ovarian HRT (oestrogen + progestogen)
Features of Noonan Syndrome
Like Turner Syndrome but autosomal dominant so can occur in men
- NOT infertile
- Webbed neck
- Short
- Pectus excavatum
- Hypertelorism (long distance between eyes)
- Congenital heart defects: pulmonary stenosis, HOCM, tetralogy of Fallot
Investigations for arterial ulcer
- Ankle-brachial pressure index (0.9-1.2 is normal, <0.5 is severe arterial disease)
- Doppler ultrasound
Management of venous ulcer
- 4-layer compression bandaging (if no PVD)
Management of arterial ulcer
- Angioplasty
- Amputation
Complications of diabetic retinopathy
- Vitreous haemorrhage
- Traction retinal detachment
- Neovascular glaucoma (due to rubeosis iridis = new vessels on iris)
Causes of cataract
Congenital
- Turner syndrome
- Myotonic dystrophy
- Rubella
Acquired
- Old
- Steroids
- Diabetes
Signs specific to Graves eye disease
- Proptosis
- Exposure keratitis
- Chemosis (redness)
- Ophthalmoplegia
Progression of eye signs in Graves Disease
NO SPECS
- No signs
- Only lid lag/retraction
- Soft tissue involvement (periorbital oedema)
- Proptosis
- Extraocular muscle involvement
- Chemosis
- Sight loss (optic nerve compression/atrophy)
Condition to be careful when prescribing levothyroxine
- IHD (levothyroxine may worsen angina)
Complications of hypothyrodism
Cardiac
- Pericardial effusion (rub)
- CCF (oedema)
Neurological
- Proximal myopathy
- Carpal tunnel
- Ataxia
Why get pigmentation in Addison’s
- Cleavage of POMC gives ACTH and MSH (melanocyte-stimulating hormone)
Uses of Wood’s light (UV)
- Depigmentated = bright white
- Fungi (dermatophytes) = green
- Corynebacterium (erythrasma) = coral pink
- Porphyria = urine turns red
Papule vs nodule
- Papule: raised dome-shaped <0.5cm (lichen planus)
- Nodule: dome-shaped >0.5cm (acne vulgaris)
Vesicle vs bulla
- Vesicle: circumscribed cavity containing fluid <0.5cm (HSV)
- Bulla: >0.5cm (bullous pemphigoid)
Erosion vs ulcer
- Erosion: lose part of epidermis (pemphigus vulgaris)
- Ulcer: extends into dermis and below (venous ulcer)
Management of cutaneous lupus
- Strong suncream
- Stop smoking
- Discoid lupus: topical steroids (clobetasol)
- Oral steroids and steroid-sparing agents
Differential for malar rash
- Lupus
- Seborrheic dermatitis: scaly
- Rosacea: telangiectasia, papules/pustules–> worsened by heat, spicy food, alcohol
Differential for photosensitive rash
- Lupus
- Drug-induced: tetracyclines/quinolones, NSAIDs, diuretics
- Polymorphous light eruption: very itchy- starts 2days after sun and fades within a week
- Actinic dermatitis: sun-exacerbated eczema
Differential for discoid patches
- Discoid lupus
- Discoid eczema: not photosensitive, no scarring
- Psoriasis
- Tinea corporis: scaling/erythema at margins, central clearing
Differential for scarring alopecia
- Discoid lupus
- Lichen planus: itchy, violaceous, on wrists, not photosensitive
- Tinea capitis: children, scaling
Management of psoriasis
1st line = Topical
- Frequent emollients
- Vitamin D (calcipotriol)
- Topical steroids in flares
- Coal tar (stains skin brown)
2nd line = UVA phototherapy + psoralen (makes skin sensitive to UVA)
- 6 weeks at a time
- Side effects: blistering, erythema, CANCER
3rd = Systemic
- Retinoids (acitretin = teratogenic, dry lips)
- Methotrexate
- Biologics: adalimumab (anti-TNFa)
Triggers for psoriasis
- Trauma (Koebner phenomenon)
- Infections: beta-haemolytic strep
- Drugs: beta-blockers, NSAIDs, antimalarials
- Cold weather
- Smoking/alcohol
How to quantify skin condition’s effect on patient’s life
- Dermatology Life Quality Index
Most common areas for vitiligo
Hyperpigmented areas
- Face
- Dorsum
- Nipples
- Axilla
- Anus/genitals
Management of vitiligo
Conservative
- Psychological support
- Skin camouflage (make-up)
Medical
- Topical steroids
- Phototherapy if more widespread
- Depigmentation (bleaching): monobenzone cream
Pathogenesis of vitiligo
- No melanocytes–> no melanin (unclear why exactly)
Conditions associated with pyoderma gangrenosum
- IBD (UC)
- Rheumatoid arthritis
- Haem: acute and chronic myeloid leukaemia
Management of pyoderma gangrenosum
MDT approach!
- Bed rest/compression bandages
- Topical steroids, or prednisolone if large ulcers
- Steroid-sparing agents (ciclosporin, infliximab)
Skin changes in diabetes
- Infection
- Ulcers: neuropathic/arterial
- Necrobiosis lipoidica: on shins
- Diabetic dermopathy: brown scaly patches on shins
- Granuloma annulare
Diagnostic criteria for Haemorrhagic Hereditary Telangiectasia
- Epistaxis
- Telangiectasia at multiple sites
- Organ AVMs (brain, lungs, liver)
- 1st-degree relative with HHT
3 criteria = definite; 2 = suspected
Mode of inheritance for Haemorrhagic Hereditary Telangiectasia
- Autosomal dominant due to mutations in endoglin ( ENG) on chromosome 9 and activin receptor-like kinase 1 ( ACVRL1) on chromosome 12
Cause of porphyria cutanea tarda
- Lack enzyme uroporphyrinogen decarboxylase (UROD)–> accumulation of porphyrins in the skin
- Usually sporadic but can be autosomal dominant
Triggers for porphyria cutanea tarda
- Alcohol: reduced UROD activity
- Oestrogens (COCP)
- Liver disease: increased iron in liver reduces UROD activity
Differential for porphyria cutanea tarda
- Epidermolysis bullosa: mechanically induced bullae
- Epidermolysis bullosa acquisita: autoimmune, blisters on skin and mucous membranes (unlike porphyria)
- Pseudoporphyria: CKD and drugs (NSAIDs, doxycycline, diuretics)
Investigations for porphyria cutanea tarda
- Urine fluoresces red under Wood’s light
- 24hr urine: uroporphyrins
- Liver screen + AFP if diagnosis made
Management of porphyria cutanea tarda
- Phlebotomy to reduce hepatic iron
- Low-dose hydroxychloroquine if phlebotomy does not work
- Remove triggers (alcohol)