Cornea and External Dz Flashcards
what is the mainstay treatment of pinguecula?
AT’s
What are indications to remove pinguecula?
cosmetically unacceptable, chronic inflammation (can try short course of steroid drops), and if interferes with wearing contact lenses
pterygium. what’s the most common age, gender, population, position on eye (why?)
most common in 20-30 men, along the equator, mostly nasally as it’s theorized that the shadow of the nose prevents corneal refraction to temporal side.
what are concretions?
conjunctival epithelial inclusion cysts that are filled with keratin debris and mucopolysaccharide and mucin.
what is stocker line?
a pigmented line of iron deposition at the invasive border of a pterygium.
Indications for pterygium removal
cosmetic
inducing astigmatism, invasion of visual axis/blurry vision
constricting eye movements
Chronic inflammation–can try short course of steroids but not long term
what are the three muscles and respective innervations for eye lids?
orbicularis oculi: innervated by CNVII
Levator palpebrae: CN III
Muller muscles by symmathetic nerves
what is avg blinking rate?
10-15
What kind of glands are Glands of Moll
apocrine sweat glands
What kind of glands are Glands of Zeis
modified sebaceous glands
what are the afferent and efferent components of the lacrimal functional unit (LFU)?
CN V nociceptors on the ocular surface. to brain stem then efferent to meibomian gland, lacrimal gland, and goblet cells.
what does the caruncle attach to?
plica semilunaris
what is the blood supply of bulbar conj?
anterior ciliary arteries of the ophthalmic artery
conj associated Lymphoid tissue (CALT) is located where?
substantia propria of the conj
cornea contributes to roughtly how many % of the total refractive power?
74%
how thick is the corneal epithelial layer? what are the three components?
40-50 microns thick. superficial squamous, broad wing cells, columnar basal cells (1 layer)
Basal epithelial cells secrete a basement membrane of 50 nm thick. what kind of collagen is it?
Type IV
what is the make up of bowman’s layer?
it’s an acellular condensate to the anterior stroma
How thick if bowman’s layer?
15 microns
What’s the purpose of bowman’s layer?
help to maintain shape of cornea
what are the major collagen and proteoglycan components of corneal stroma?
Collagen: type I, V fibrillary collagen interwoven with Type IV
Proteoglycans: decorin and lumican
What % is water in corneal stroma?
78%
what are the components of corneal hydration?
Na-K ATPase, swelling pressure of cornea due to glycosaminoglycans, and IOP compression, epithelial evaporation
where is the Dua’s layer of cornea?
predecemet’s layer
what structure is the “end” or edge of decement’s membrane
schwalbe line
vertical and horizontal diameter of cornea in adults?
vertical 10-11; horizontal 11-12
which nerve innervates the cornea?
long ciliary nerve forms sub epithelial plexus
what technique can be used to visualize endothelial cells
specular microscopy
do endothelial cells proliferate?
not in vivo. damaged areas are covered by enlargement of surrounding cells.
structure hosting stem cells for corneal epithelium?
palisade of Vogt
what is the XYZ hypothesis of corneal health?
X is proliferation and stratification at limbus, Y is centripetal migration of epithelial cells centrally, Z is desquamation of old corneal cells. For K to be healthy X +Y >Z
triad of KPs, elevated IOP, and corneal edema indicates what?
HSV
cyclosporins are associated with what side effect?
disc edema
what side effect is associated with Etanercept and Infliximab
optic neuritis
Kpro biggest two down sides?
risk of glaucoma and endophthalmitis
severe atopic dermatitis and keratoconjunctivitis can be treated with what oral med LONG term?
tacrolimus
chronic cicatricial conjunctivitis signs? differential?
fornix fibrosis and shortening.
infection (adeno, trachoma), mucus membrane pemphegoid, trauma/chemical injury, neoplasm
features of vernal conjunctivitis
<10 y/o M, giant papilla, horner-trantas dots (limbal follicles)
topiramate is associated with glaucoma. what are the 3 primary treatments?
stop topiramate, topical hypotensives, cycloplegia (for often associated mild AC raection)
azithromycin has what side effect?
QT prolongation
how to treat gonococcal conjunctivitis? what if there’s corneal involvement?
conjunctivitis 1g ceftriaxone IM.
if there’s corneal involvement–admit pt for IV ceftriaxone
what is specular microscopy?
confocal microscopy live imaging of endothelium.
whats the normal density of endothelial cells
1500-3500 cells/mm2
what is confocal microscopy of the cornea good for?
in vivo analysis of the 5 layers. can identify causative organisms of infection, corneal nerve morphology, eval of each layer in dystrophies
what are the 4 main zones of the cornea?
central, paracentral, peripheral, limbal
what are the three key components giving cornea its optical properties
shape, curvature, power
what is the optical zone of the cornea
cornea overlying pupil
what is cornea apex vs cornea vertex?
apex is the point of max curvature, vertex is point at intersection of patient’s line of fixation and corneal surface.
whats the average refractive power of the cornea?
+43D; +49D from anterior surface -6D of posterior surface
what is keratometry and what does it measure? limitation?
measurement of power of central cornea. It calculates radius of curvature in mm.
only measures anterior power of central cornea
what is keratoscopy?
projection of placido rings to provide qualitative information of the entire anterior cornea
what is topography vs keratoscopy?
topography is digitally projected and represented with colors
bow-tie pattern on topography?
astigmatism
crab claw configuration on topography is classic for what? what else is on differential?
pellucid marginal degeneration, or keratoconus is also ddx.
what is angle kappa? what is a desired value when calculating IOLs
angle between visual axis and pupillary axis (optical axis). want it to be <0.4mm
what should you avoid if angle kappa is >0.4?
multifocal IOLs. given line of sight and pupillary axis (optical axis) are far apart
what is corneal tomography vs topography? what technology is tomography based on ?
tomography can capture 3D structures of the cornea–anterior and posterior curvature, corneal thickness, AC depth, lens information.
-placido and scanning slit
what filter is used to see fluorescein
cobalt blue
what is dye disappearance test?
timing duration of fluorescein presence –if prolonged there may be nasal lacrimal system blockage.
punctate staining at 3 and 9 o’clock is classic for what cause
due to CL wear
what is the basic secretion test?
filter strip 5mm wide 30 mm long, in fornix with anesthetic–to measure basic tear production; <3mm in 5 mins is abnormal
what is schirmer I test–how is it done and what does it test for? what’s abnormal
filter strip to fornix withOUT anesthetic to test for basic AND reflex tearing. <5.5mm in 5 mins is Abnl.
what is schirmer I test–how is it done and what does it test for? what’s abnormal
filter strip to fornix withOUT anesthetic + nasal mucosa irritation with cotton tip. <15 mm in 5 mins is Abel
comment on specificity and sensitivity of schirmer tests
specific but NOT sensitive
whats the normal osmolality of tear
306-308
what are some markers of dry eye that we can assay for ?
lactoferrin, IgE (for allergic), matrix metalloproteinase 9 (MM9) >40
what is corneal esthesiometry and how is it done?
corneal sensation test–> cotton whisp without anesthesia, before IOP check, and tested in all 4 quadrants
There’s also a handheld esthesiometer (cochet-Bonnet)
what is corneal hysteresis
the difference in pressure of the cornea bending inward vs bending outwards during air jet applanation
What is corneal resistance factor?
correction between corneal hysteresis and thickness.
terrien marginal degeneration classic features?
marginal corneal thinning with lipid keratopathy in 4-5th decade of life resulting in against the rule, oblique, or irregular astigmatism.
patient population for floppy eye lid
obese with OSA
underlying problem with floppy eyelid
lax upper tarsus
recurrent corneal erosions. what are 3 causes?
past trauma, past HSV, epithelial dystrophy
treatment options for recurrent erosions?
lubricate/hypertoic saline, BCL, epithelial debridement vs anterior stromal puncture, PTK vs PRK
what is distichiasis?
two rows of eye lashes (second coming out of meibomian glands
what is mucus fishing syndrome
patients fixated on fishing strands of mucus out of eye and eye rubbing leading to more mucus production. +lissamine green and rose bengal inferior K and conj
what is congenital anterior staphyloma?
opaque cornea that is partially or completely absent of decemet’s and endothelium and lined with uveal tissue posteriorly to cornea causing iris problems. usually unilateral
what is keratectasia and how is it different than congenital anterior staphyloma?
keratectasia is opaque cornea without decemet’s or endothelium. Anterior staphyloma has also a layer of underlying uveal tissue that keratectasia does not.
which IOP lowering drop is associated with reactivation of HSV keratitis?
prostaglandin analogues
microcornea dimensions? mode of inheritance? px?
<10 mm; autosomal dominant. px generally well with glasses
megalocornea dimensions? mode of inheritance
> 13mm; sex linked recessive
megalocornea associated gene?
CHRDL1
megalocornea associated abnormalities?
diaphany, goniodysgenesis, ectopia lentes, arcus, zonule instability, glaucoma (not congenital glaucoma.
dimensions of cornea plana and sclerocornea?
<43 D
Cornea plana is associated with what gene?
KERA(12q22)
ocular associations of cornea plana?
close angle glaucoma, cataract, coloboma, hyperopia
Finnish ancestry is associated with what disease
cornea plana
3 waves of neurocrest cell migration at 6 weeks make up what structures
K endothelium, stroma, and iris
mode of inheritance for sclerocornea?
sporadic is most common.
manifestation of syphilic intrauterine keratitis?
typically 6-12 years old; sudden onset K edema, vascularization formation of salmon patch that regresses to leave ghost vessels
Association of Lowe’s syndrome?
oculocerebrorenal. cataract, kidney disease, and corneal keloid
corneal keloids are seen with what conditions?
Lowe’s, Rubinstein-Taybi, ACL (acromegaly, cutis vertices gyrata, corneal leucoma syndrome)
forceps birth trauma is associated with what eye findings
Horner’s and Vertical Haab’s striae.
What is congenital corneal anesthesia?
bilateral sterile ulcers and PAINELESS K opacities as infant or child.
what’s the difference between degeneration and dystrphy
dystrophies has inheritance pattern
deceit’s thickness at birth and in elderly?
3 microns –>13 microns
what are age related Guttate called?
Hassall-Henle bodies; due to loss of endothelial cells.
What are coat’s white ring
residual subepi/stromal haze after metal FB. It won’t change after acute inflammation has resolved…so no use for steroid at this point
what is Spheroid degeneration
Either primary (degenerative) or secondary (due to inflammation)– translucent subepi, bowman’s or superficial epithelial deposits. Looks oily. Mostly on cornea but can involve conj
other names of spheroid degeneration?
Laborador keratopathy, Bietti nodular dystrophy, actinic keratopathy, climatic droplet keratopathy
causes of BK?
inflammation, hereditary, hyperphos, hypercalc, hyperurecemia, mercury vapor exposure
How to treat BK?
EDTA chelation
Ferry line?
K iron line from bleb
Fleisher Ring?
iron line at base of keratoconus
Hudson-Stahli line
WNL due to aging; at junction of upper 2/3 and lower 1/3 of K
Stocker line
pterygium
LASIK line
at margin of ablation zone or more centrally
Chrysiasis
Gold deposition in cornea; often peripheral
Chalcosis
copper deposition in K due to copper FB
Argyriasis
silver deposition in cornea
Arcus is due to lipid deposition where?
both bowman’s and decemets
White Limbal girdle of Vogt?
Type I: early BK with clear zone between limbus
Type II: no clear zone between limbus; more punctate in older individuals
what is corneal farinata? mode of transmission
reflective material in keratinocytes of deep stromal layer giving a dot or common like shape on retroillumination; dominant
crocodile shagreen is also called what
mosaic degeneration
what is senile furrow degeneration? what should you be careful of?
apparent or real thinning in the area of senile arcus. Cat surgeons should take caution to prevent wound leak
Terrien marginal degeneration- what is it? what age are patients? where does it start? complications of it?
peripheral thinning of the corneal without epithelial loss. Age >40. Starts Supranasally and spreads. Complications include astigmatism (usually against the rule and oblique) can cause spontaneous perforation.
Terien marginal degeneration in a young person with inflammation… you should think?
Fuch’s superficial marginal keratopathy
what is lipid keratopathy?
deposition of cholesterol, fats, and glycoproteins s/p prolonged K inflammation–> leading to scarring and vascularization.
What condition looks like lipid keratopathy?
Schnyder corneal dystrophy (autosomal dominant stromal dystrophy), bilat opacification from lipid and cholesterol accumulation.
what are Cogan plaques?
calcium deposition along scleral collagen fibers anterior to horizontal rectus muscle insertion
If vision is decreased when on amiodarone or tamoxifen what should you consider?
optic neuropathy… given that verticillate is unlikely to reduce vision
What are some meds associated with verticillate? what systemic condition?
amiodarone, indomethacin/ibuprofen, chloroquine/hydroxychloroquin, tamoxifen, silver, gold, antacids, gentamicin, clarithromycin
Side effect of Cytarabine?
inhibition of DNA synthesis can cause painful epithelial cysts and punctate keratopathy– and KEDs
what kind of depositions are associated with ciprofloxacin?
chalky white crystalline deposition in KEDs
What depositions are seen with tetracyclines?
adrenocrhome (breakdown of epinephrine) dark spots in K or conj
rifabutin can deposit where?
endothelium
what are the 4 categories of corneal dystrophies?
- epithelial sub epithelial
- Epithelial stroma
- stromal
- endothelial
what pathogens can invade through intact corneal epithelium?
neisseria, listeria, corynebacterium
conditions associated with limbal stem cell deficiency?
chemical burns, SJS, GVHD, aniridia
honey comb subepithelial opacities are associated with what?
Thiel-Behnke dystrophy
Granular dystrophy histologic features?
hyaline deposition in stroma– red staining with Masson trichrome
zoster immunization decreases likelihood of zoster by how much?
50%
what are the histological features of mapdot fingerprint/EBMD?
sheets of intraepithelial basal lamina material (map)
intral epithelial extension of basal laminar material (fingerprint)
intraepithelial psuedocysts containing cytoplasm (dots)
irregular subepi of fibrogranular material (bleb)
other names of map dot finger print (4)
endothelial basement membrane dystrophy. cogan microcystic epithelial dystrophy, anterior basement membrane dystrophy
Meesman epithelial corneal dystrophy (MECD) clinicalfeatures? mode of transmission?
small intraepi vesicles on regroillumination. can have whorled and wedge shaped epithelial pattern, slightly thinned cornea, decreased corneal sensation. Dominant.
What is the histological feature of meesman epithelial dystrophy?
PAS positiveepitheilal cells with dense fibrogranular material surrouded by tangles of cytoplasmic filaments “peculiar substance”. thickened basement membrane and frequent mytosis
What is Stocker-Holt?
earlier onset variant of Meeseman
What are clinical features of Lisch epithelial corneal dystrophy? Mode of inheritance?
band shaped, feathery gray lesions with whorled/flamed pattern. Also has microcysts in epithelium. More isolated to areas of the cornea. Usually is painless. X linked dominant.
Hystological features of Lisch epithelial corneal dystrophy?
PAS staining in cytoplasmic vacuoles. Ki67 staining of mitotic activity.
Gelatinous droplike corneal (epithelial) dystrophy. Other names? mode of inheritance?
subepithelial amyloidosis. primary familial amyloidosis. Autosomal rescessive.
gelatinous droplike corneal dystrophy. clinical presentation?
mull burry like small nodule subepi lesions–decreased vision, photophobia, irritation, tearing, protrusion of lesions, larger “kumquat-like lesions”. Second decade of life.
TGFB1 gene is at what locus? responsible for what protein?
5q31– kertoepithelin
what are the two bowman’s dystrophies? what gene is affected?
reis-buckler and thiel behnke. TGFB1 on 5q31 affecting keratoepithelin
what are the histological features of Reis-Buckler?
sheets of granular deposits that stain red on Masson trichrome. Immunopositive for TGFb1
Clinical features of reis buckler dystrophy? age of onset?
irregular/coarse geographic opacities in bowman’s layer. onset first few years of life
clinical differences between Reis bucker and Thiel Behnke?
Reis bucker is more severe but Thiel Behnke recurs more.
histological feature of Thiel Behnke?
saw tooth fibrocellular material in bowman’s layer. –positive immunostaining for TGFB1
clinical feautres of Thiel Behnke?
first second decade of life starting as solitary flecks of honeycomb pattern sparing peripheral cornea.
What is another name for Waardenburg-Jonker corneal dystrophy?
Thiel Behnke
Histological feature of lattice corneal dystrophy Type 1 (classic)
arborizing amyloid deposits in anterior stroma. focal thinning/absence of Bowman’s layer.
-red with congo red with apple green birefrengence.
What are two unrelated conditinons that may look like lattice dystrophy?
fungal hyphae; monoclonal gammopathy
Granular corneal dystrophy type 1 histological features?
granular hyaline deposition with Masson Trichrome. also stains for TGFb1
bread crumb like appearance of cornea
Granular stromal dystrophy.
clinical feautres of granular dystrophy classic type 1?time of onset? px?
breadcrumb appearance, vacuoles, glassy splinter appearance. slowly progressive. first couple decades of life onset. px generally good
What is Avellino corneal dystrophy. histological features?
Granular dystrophy type II– it has both granular dystrophy’s hyaline depositis and amyloid deposits of lattice dystrophy
Clinical features of Avellino corneal dystrophy?
snow-flake like “icicle” like corneal appeareance with deeper stromal lattice lines.
what late stage occurence in keratoconus leads to acute hydrops?
decemet breaks
conditions associated with keratoconus?
atopic disease, Downsyndrome, osteogenesis imperfecta, sleep apnea, MVP, Ehler Danlos, vernal keratoconj, retinitis pigmentosa, floppy eyelids
Macular corneal dystrophy involves what layers? age of onset?
can involve all the layers. between 3-9 y/o.
Clinical features of macular corneal dystrophy?
superficial, irregular, white fleck-like opacities with focal gray-white superficial stromal opacities with INTERVENING HAAZE. can involve all layers of cornea. Hypoesthesia can be seen.
How to diagnose macular dystrophy aside from clinical feautures?
ELISA against keratan sulfate
What stains are used for Schnyder corneal dystrophy?
oil red O, sudan black. Tissue must be sent FRESH.
What lab test should you get in Schnyder corneal dystrophy?
fasting lipid panel. dietary modification is recommended but does not lead to better px
Congenital stromal corneal dystrophy. Presentation?
congenital diffuse bilateral clouding–stromal flake like white opacities. thickened cornea
Fleck corneal dystrophy. pathology? is it progressive?
excess glycosaminoglycan–stains alcian blue and colloidal iron. Also stains lipids-sudan black and oil red O. It is NOT progressive.
microscopy features of Posterior amorphous corneal dystrophy? Is it progressive? Gene association?
attenuated endothelial cells. Irregular stroma anterior to decemets. Nonprogressive. KERA gene–thus associated with cornea plana, hyperopia.
PreDecemet corneal dystrophy. Associated with what disease?
X linked icthyosis
PreDecemet corneal dystrophy. microscopy features? clinical features?
large keratocytes in posterior stroma. vacuoles and intracytoplasmic inclusions. >30 y/o==fine polymorphic gray opacities.
Three stages of Fuch’s endothelial dystrophy?
1: guttate that spreads from central out
2: endothelial decompensation and stromal edema
3: bullous keratopathy
Treatment options for Fuch’s?
mild disease: Murad (NaCl), BCL, IOP lowering. Anterior stromal puncture, amniotic membrane.
Severe: PK vs endothelial transplants.
Novel: intracameral Rho Kinase (ROCK) inhibitor to stimulate endothelial proliferation
Posterior polymorphous dystrophy is also called what?
Schlichtung dystrophy.
Posterior polymorphous dystrophy. clinical presentations?
endothelial vesicles, geographic gray lesions, endothelial bands with scalloped edges. Stromal edema, corectopia, iridocorneal adhesions.
Posterior polymorphous dystrophy. pathological features?
multiple layers of endothelial cells that behave like epithelial cells–have microvilli, keratin, rapid growth, desmosomes.
Congenital hereditary endothelial dystrophy (CHED). clinical features? path features?
clinical: blurry vision, nystagmus withOUT tearing/photophobia. diffuse ground glass haze.
Path: thickened decemets and sparse atrophic corneal endothelial cells.
what condition is associated with increased inferior to superior power ratio of the cornea?
keratoconus.
best imaging options for keratoconus?
Scheimflug imaging, anterior OCT. –Showing decentered bow tie
keratoectasia is associated with what surgery?
LASIK and PRK
is hydrops an indication for emergency PK?
no
Pellucid marginal degeneration (PMD) –laterality and hereditary pattern? what is it?
bilateral, nonhereditary. non inflammatory.
Peripheral thinning
crab claw pattern of cornea thinning
pellucid marginal degeneration.
Px of pellucid marginal degeneration vs keratoconus?
PMD is worse because any transplant will be closer to the limbus and more prone to rejection
Keratoglobus. laterality, age of onset?
bilateral, noninflammatory, and typically present at birth
Keratoglobus is associated with what physical exam finding and condition?
blue sclera. Ehler Danlos
where is it think for keratoglobus?
paracentral inferior-decemetc, bowmans, and stromal thinning.
keartoglobus treatment?
CL, PK, tectonic lamellar keratoplasty followed by PK.
Kayser Fleischer ring found in what diseases?
Wilson’s primary biliary cirrhosis, chronic hepatitis, exogenous chalcosis.
of all the mucopolysaccharidosis conditions… all of them are what inheritance pattern? except for 1 which is what? and how is it transmitted?
all are autosomal recessive except for Hunter’s which is X linked recessive.
what are the three varieties of Mucopolysaccharidosis I disorders?
Hurler, Scheie, Hurler-Scheie.
Hurler syndrome… what is the missing enzyme
a-L-iduronidase.
ocular features of Hurler/ Scheie syndrome?
corneal opacity, optic atrophy, retinopathy.
what’s the difference between Hurler and Scheie?
they are the same disorder except for Hurler is severe with additional intellectual impairment and short lifespan vs Scheie is later onset (age 5-15) and have normal intelligence and life span.
Hurler can have pigmentary retinopathy, glaucoma, optic nerve swelling/atrophy, hypertelorism
How to diagnose Hurler/Scheie?
leukocyte/ plasma enzyme study. urine analysis, conj biopsy (rarely used)
what is the accumulated material in MPS I (hurler’s/ scheie)
dermatan and heparan sulfate
what is MPS II disorder?
Hunter’s
Hunter’s syndrome enzyme? accumulate?
Iduronidase 2 sulfatase, dermatan and heparan sulfate
Hunter’s features?
exophthalmos, hyperteloris, optic nerve swelling/atrophy, retinopathy
What is Sanfilippo syndrome?
MPS III associated with pigmentary retinopathy, abnormal ERG.
Morquio syndrome–clinical features?
shallow orbits, retinopathy, mild K opacity in 10% of patients >10 years old
Morquio syndrome–what is the pathophys?
MPS IV–missing galactose 6 sulfatase (A) and b-galatosidase (B) accumulate of keratin sulfate (A) and chondroitin sulfate (B).
Maroteaux-Lamy syndrome–pathophys?
MPS VI. missing N acetylgalactosamine-4 sulfatase; accumulate dermatan sulfate.
Maroteau-Lamy clinical features?
severe K clouding within 1 year of life. K edema. Also narrow angle glaucoma and optic nerve atrophy
Sly syndrome -clinical features?
corneal clouding
Sly syndrome- pathophys?
MPS VII. beta glucuronidase deficiency. dermatan sulfate, keratan sulfate, chondroitin sulfate accumulation.
Natowicz syndrome–pathophys/ clinical features
MPS IX. hyaluronidase 1 missing. accumulation of chondroitin sulfate. no corneal clouding
how is px of PK for patients with K clouding due to mucopolysaccharidosis
guarded as can accumulate in graft
How many sphingolipidosis conditions are there…what are they
4.
Fabry’s, Tay Sachs, multiple sulfatase deficiency, generalized gangliosiosis
What are the organisms that can invade intact cornea
Shigella, H flu biotype III, Neissieria (both gonorrhea and meningitidis, Listeria, fusarium, and corynebacterium
which bacteria have exotoxin that can induce corneal cell necrosis
pseudomonas, strep, and staph
sphingolipidosis –corneal finding. other ocular findings
verticillata in epithelial layer. periorbital edema 1/4th of cases, posterior spokes like cataracts 50%, conj aneurysms (60%), papilledema, retinal swelling, optic atrophy, retinal vascular dilation
Fabry’s extraocular findings
renal failure, peripheral neuropathy, angiokeratomas,
multiple sulfatase deficiency extra ocular findings
metachromic leukodystrophy, progressive psychomotor decline. usually die within 1 year.
unilateral arcus or asymmetric arcus is likely due to what
carotid atherosclerosis
sabourad agar cultures what
fungi
Lowenstein jensen agar cultures what
mycobacterium
thioglycolate agar cultures what
aerobes and anaerobes
name the 3 lysosomal storage diseases?
Fucosidosis, mannosidosis, Goldberg syndrome.
What is the function of LCAT (non ophthalmology)
LCAT transports excess cholesterol from peripheral tissue to liver
What are LCAT deficiency associations–systemic? ocular?
systemic: renal insufficiency, atheroscolerosis.
Ocular: arcus, “nebular corneal clouding
What is fish eye disease?
variant of LCAT deficiency. –corneal clouding, arcus
which chromosome abnormality is associated with fish eye disease and LCAT deficiency.
16q22.1
Tangier disease pathophys? genetic locus? exam findings?
missing serum high density alpha lipoproteins. disease maps to 9q22. large orange tonsils, spleen and LN
Crystalline keratopathy occurs in immunocompromised corneas. what’s that most likely causative agent?
viridans strep–branching colonies within corneal stroma
what is a complication of congenital cataract surgery that could present at any point in the patient’s life?
glaucoma–especially with young patients, 3 months post op, small K diameters
TIGR/MYOC gene is associated with what?
junvenile open angle glaucoma
OPTN gene is associated with what?
normotension glaucoma
CYP1B1 gene is associated what what
congenital glaucoma
LOX1 is associated what what
pseudoexfoliation
treatment regimen for burn injuries
ppx abx, cycloplegic, steroid– debridement if needed
transient corneal edema due to cold exposure can occur in which conditions?
Raynaud’s and CN V dysfunction
time course of UV radiation exposure?
Snow vs. welding vs. sun lamp. asymptomatic initially then pain few hours later as epithelium sloughs off. Usually self limited. Can use ointment and cycloplegia
cystinosis eye finding
polychromatic cysteine crystals in conj, cornea, iris
eye treatment for cystinosis?
cysteamine eye drop to convert cystine to a disulfide resembling lysine
tyrosinemia corneal findings? derm findings?
cornea will have pseudodendritic lesions and corneal erosions; derm is hyperkeratotic lesions of the palm/soles
treating tyrosinemia?
dietary restriction of tyrosine and phenylalanine
ocular manifestation of alkaptonuria?
pigment deposition in bowman’s layer and epithelium. ochronosis due to excess homogentisic acid–treat with vitamin C to decrease arthritis
Meretoja syndrome/Gelsolin type lattice corneal dystrophy
amyloid deposits, dermatochalasis, lagophthalmos, pendulous ears, lattice lines
porphyria eye findings
necrotizing scleritis, corneal thinning
Ehlers Danlos type VI. eye findings. systemic findings
easy ruptured/brittle cornea, blue sclera, keratoconus, keratoglobus. scoliosis and moderately joint/skin distensibility
locus of fibrillar gene
15q21
osteogenesis imperfecta. gene associated? type I vs Types 2-4? ocular findings?
COLIA1, COLIA2; Type I blue sclera fades with time; other findings include optic nerve damage due to fx, keratoconus, megalocornea
vitamin A deficiency causes what?
night blindness(decreased rhodopsin), xerophthalmia (loss of goblet cells)–bitot spots
what patients get vitamin A deficiency?
babies that are malnourished with stressors such as diarrhea and measles.
Adults with chronic alcoholism, lipid malabsorption
px of vitamin A deficiency
50% mortality rate untreated
ocular signs of monoclonal gamopathies (MM, waldenstrom, cryoglobulinemia)
crystalline deposition in cornea, copper in cornea, slugging of blood flow, pas plant proteinaceous cysts, infiltrate of sclera, orbital bony invasion with proptosis
what are vertical lines in decemet’s and deeps stroma called in DM?
Waite-Beetham lines
differences between ichthyosis vulgaris and x linked ichthyosis
x linked up to 50 % may have corneal opacities vs ichthyosis vulgaris usually does not. Both have eye lid scales, iccatricial ectropion
acute hemorrhagic conjunctivitis are usually caused by what?
entero virus or coxackie virus
