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anomalies Flashcards

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1
Q

anterior megalophthalmos
assoc
findings

A

assoc: marfans
mucolipidosis type II
Apert’s syndrome

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2
Q

cornea plana

A

chromosome 12
assoc: sclerocornea, angle closure glaucoma
K 20-30 (equal to sclera)
path: diffuse scarring/vascularization of stroma, thick epi, absent Bowman’s, thin descemets

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3
Q

Megalocornea

A

newborn with horizontal diameter > 12mm
X-linked
M>F (9:1)
Assoc: Marfan’s, alport’s, down’s syndrome, craniosynostosis
Findings: weak zonules, large cornea, sublxated lens, ectopic pupil

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4
Q

Microcornea

A

less than 9 mm
AD or sporadic, arrested development at 5 mo
dwarfism
Ehlers-danlos syndrome
Findings: hyperopic, cataract or coloboma, PHPV, glaucoma - angle closure or open angle

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5
Q

axenfeld’s anomaly

A 
AD
posterior embryotoxon
iris processes to scleral spur
50% develop glaucoma
FOXC1, PAX6, REIG1, REIG2
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6
Q

Alagille’s Syndrome

A

axenfeld’s (posteior embryotoxon with iris strands to SS)
Pus pigmentary retinopathy, esotropia, corectopia
Systemic: absent deep tendon reflexes
absent facies
pulmonic valve stenosis
chrom 20p12 - ERG and EOG abnormal

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7
Q

Reiger’s anomaly

A

axenfelds (posterior embryotoxon + iris strands to SS) + iris hypoplasia with holes
50% develop glaucoma
RIEG1, REIG2, FOXC1, PAX6

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8
Q

Reiger’s syndrome

A

Reiger’s anomaly (axenfelds + iris hypoplasia + holes)
With mental retardation
dental, craniofacial, GU skeletal abnormalities also

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9
Q

Peter’s anomaly

A

central corneal leukoma (defect in Descemet’s membrane)
absence of endothelium
iris adhesions with lens involvement
also - cardiac, craniofacia, skeletal abnormalities
mostly sporadic
80% bilateral
PAX6 (11p13), PTX2, CYP1B1, FOXC1

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10
Q

Differential for cloudy cornea

A 
STUMPED
Sclerocornea
Trauma - tears in Descemet's membrane
Ulcer
Metabolic
Peter's anomaly
Edema (CHEDS)
Dermoids
Also: CHSD, rubella, poserior keratocouns, congenital corneal staphyloma
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11
Q

CHED - congenital hereditary endothelial dystrophy
CHED1
CHED2

A

rare
bilateral corneal clouding
chromosome 20p
CHED 1- AR (2 yo, pain, tearing, photophobia, progressive)
CHED 2 - AR - more common, at birth, nystagmus, no pain/tearing, nonprogressive

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12
Q

Congeital hereditary stromal dystrophy

A 
rare
AD
nonprogressive
clear peripherally, no edema
can cause strabismus, nystagmus, ambylopia
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13
Q

dermoid

A

solid, yellow-white choristoma
25% bilateral
Assoc: Goldenhar’s syndrome, linear sebaceous nevus syndrome
limbal - inferior temporal (most common)
complications: astigmatism, ambylopia

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14
Q

Aniridia

types, genetics, associations

A

hereditary or sporadic PAX6
AN1 - AD (2/3) only have eye involvement
AN 2 - sporadic (1/3) - associated with Wilm’s tumor and WAGR (wilms, aniridia, GU abnml, mental retardation
AN 3 - AR - Gillespie’s syndrome - mental retardation and ataxia

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15
Q

Gillespie syndrome

A

AR
Aniridia (2% of cases)
mental retardation
ataxia

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16
Q

Aniridia - associations

A 
foveal and optic nerve hypoplasia
glaucoma (30-50%)
cataracts (50-80%)
nystagmus
photophobia
amblyopia
limbal stem cell deficiency

PAX6 (11p13)

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17
Q

iris coloboma

location and associations

A

most commonly inferiornasal
assoc: Goldenhar’s syndrome, CHARGE, trisomy 13,18,22, chrom 18 deletion, Klinefelter’s syndrome, Turner’s syndrome, Meckel’s syndrome, basal cell nevus syndrome, linear sebaceous nevus syndrome

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18
Q

Ectropion uveae

Congenital iris ectropion syndrome

A

ectropion of posterior pigment epithelium onto anterior surface of the iris
Assoc: NF and Prader-Willi

unilateral, high iris insertion, angle dysgenesis, glaucoma, smooth crypt-less iris

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19
Q

corectopia

Dyscoria

A

displacement of pupil
assoc: axenfeld-reiger syndrome, iridocorneal endothelial syndrome uveitis, trauma

abnormally shaped pupil
assoc: PS, axenfeld-reiger syndrome, ectopia lentis et pupillae

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20
Q

Brushfield’s spots

Lisch Nodules

A

in 85% of down syndrome pts
focal areas of iris stromal hyperplasia surrounded by relative hypoplasia

NF-1
neural crest hamartomas
increase in frequency and number with age

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21
Q

JXG

A

histiocytic proliferation
yellow-tan nodules
spontaneous hyphemas with iris involvement
rarely have orbital granulomas
often regress by age 5
Path: proliferation of histiocytes with Touton giant cells

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22
Q

Mittendorf’s dot

A

white opacity on posterior lens

remnant of tunica vasculosa lentis where hyaloid artery is inserted

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23
Q

Lenticonus

A

cone-shaped lens abnormalities

Anterior - bilateral M>F
Alport’s (anterior lenticonus, nerphritis, deafness)

Posterior - unilateral, F>M, more common

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24
Q

microspherophakia

A

small, spherical lens
bilateral
sonules visable
pupillary block can occur - tx is cycloplegic
Assoc: Weill-marchesani, Alport’s syndrome, congenital rubella, peter’s anomaly

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25
Optic nerve hypoplasia
``` small disc vessels exit centrally double ring sign APD amblyopia nystagmus ``` need: MRI and endocrine work-up
26
Associations with optic nerve hypoplasia
maternal diabetes, anticonvulsants, alcohol, LSD, quinine Midline brain defects Pituitary dysfunction aniridia CHARGE Demorsier's syndrome (septo-optic dysplasia)
27
De Morsier's syndrome
= septo-optic dysplasia bilateral ON hypoplasia midline CNS anomalies (absent septum pellucidum) pituitary/hypothalamus deficiency
28
Optic Pit Congenital vs Aquired
unilateral depression in ON with peripapillary RPE changes inferior-temporal most common 40-45% develop serous RD or macular retinoschisis
29
Optic nerve coloboma
incomplete closure of embryonic fissure inferonasal assoc with other colobomas/small eyes Rare assoc with basal encephalocele
30
Optic nerve coloboma assoc with multisystem gene disorders
``` Meckel-Gruber syndrome Golz's focal dermal hypoplasia Lenz microphthalmia syndrome (X-linked_ Renal-coloboma syndrome (AD - PAX2) CHARGE syndrome ```
31
CHARGE syndrome
``` Coloboma Heart defect Atresia choanae Retarded growth Genital anomalies Ear anomalies/deafness ```
32
Morning Glory Disc Anomaly
Unilateral, F, high myopia Poor vision, RAPD no other colobomas 30% develop peripapillary nonrhegmatogenous RD Retinal vessels are straight and exit from the borders
33
What to worry about with morning glory disc anomalies
transphenoidal basal encephalocele
34
Acquired optic atrophy
``` compressive tumors: craniopharyngioma ON or chiasmal glimoas hydrocephalus neonatal anoxia ```
35
Leber's hereditary optic neuropathy - Triad demographics Genes
circumpapillary telangiectasia pseudoedema of the disc absence of fluorescein staining of ON/vessels M:F (9:1) sequential bilateral vision loss Maternal mitochondrial DNA 11778 (worst, most common), 3460, 14484 (best prog) Red green VA loss
36
Dominant optic atrophy signs gene
``` = Kjer's syndrome(AD) most common optic atrophy Bilateral, symmetric temporal pallor OPA 1 (3q28) VA 20/40-20/200 Blue/yellow vision loss ```
37
Behr's optic atrophy
Recessive (BehRRR) infantile, severe VA loss < age 5 M >>> F
38
Behr's syndrome
``` AR optic atrophy (M >>> F) menal retardation cerebellar ataxia hypertonia nystagmus ```
39
Optic nerve drusen associations complications
sporadic or AD 75% bilateral, prelaminar portion of ON Assocc: Angioid streaks, RP, Alagille's syndrome Comp: VF defect, enlarged blind spot, rarely AION, CNV
40
Ectopia lentis associated with
1. Simple ectopia lentis (AD) 2. ocular trauma 3. Aniridia 4. Ectopia lentis et pupillae (AR) 5. Marfan's (superior temporal) 6. Homocystinuria (inferior nasal) 7. Weill Marchesani 8. hyperlysinemia 9. Syphilis 10. Ehlers-Danlos
41
bilateral congenital cataracts
``` idiopathic (60%) TORCHS (3%) hereditary (AD- 30%) maternal drug/malnutrition trauma ```
42
Anterior polar
``` usually sporadic nonprogressive unilateral not visually significant associated with microphthalmos and anterior lenticonus ```
43
Lamellar
unilateral or bilateral, sand dollar if bilateral - AD, neonatal hypoglycemia, galactosemia progresses to be visually signficant eventually (later in life)
44
nuclear
``` usually AD (esp if bilateral) need to be removed early ```
45
Sutural cataract
bilateral opacification of Y sutures
46
posterior lenticonus
unilateral, sporadic F > M assoc with PHPV
47
Posterior polar
larger, more visually significant AD (if bilateral)
48
Work up for bilateral cataract
urinalysis (look for reducing substances (galactosemia, amino acids - lowe's syndrome) Ca/phos, glucose, TORCHS titers Karyotype - trisomy 13, 18, 21, turner's cri-du-chat audiogram - rubella, alport's red blood cell galactokinase levels
49
work-up for unilateral cataract
trauma/child abuse | TORCHS titers
50
DDx for leukocoria
``` cataract retinoblastoma PFV toxoplasmosis toxocariasis RD ROP Coats Disease Coloboma Norrie's disease incontinentia pigmenti medulloepithelioma ```
51
indications for cataract surgery
central cataract > 3 mm dense nuclear cataract nystagmus or strabismus near vision worse than 20/50 or 20/60
52
primary congenital glaucoma
AR, sporadic Chrom 2 CYP1B1, GLC3A K diameter birth >12 mm, 1-2 yrs > 12.5 mm, older > 13 mm. Habb's striae - circumfrencial or horizontal Tearing, photophobia, blepharospasm progressive myopia
53
Associations with primary congenital glaucoma
aniridia, axenfeld/reiger/peter's anomaly, microcornea, sclerocornea, ROP, PHPV, tumors
54
PHPV (PFV)
unilateral, sporadic microphthalmic vascularized retrolental plaque (can contain cartilage) angle closure glaucoma, Vit heme RD
55
Sturge-Weber
sporadic facial hemangiomas - nevus flammeus (port-wine stain). V1 and V2 bilateral in 10% glaucoma in 33% (early because of traneculodysgenesis, late because of incr episcleral venous pressure)
56
``` tricks tor remember phakomatoses W rule S Rule Glaucoma in who? Inheritance ```
AD except Ataxia telengectasia (AR) *I smell A RAT (AR - AT) W = sporadic (Sturge Weber/ Wyburn- Mason) S = Seizures (Tuberous sclerosis/Sturge-Weber) 50% Glaucoma risk if upper lid involved (NF, Sturge-weber)
57
Neurofibromatosis
``` AD NF-1 (chrom 17) cafe au lait, axial/groin freckles, optic nerve glioma, lisch nodules (increase with age), sphenoid wing dysplagia NF-2 chrom 22 PSC cataracts, acuoustic neuroma, ataxia ```
58
Von-Hippel-Lindau
AD, chrom 3 (three names, three organs, chrom 3) 50% bilateral hamartomas of eye, brain, kidney retinal angiomas, CNS tumors, visceral lesions, renal cell carcinoma, pheochromocytoma
59
Tuberous sclerosis
AD adenoma sebaceum, MR, epilepsy = Volt's triad acsterocytic hamartoma of retina, astrocity hamartoma of ON, facial angiofibromas, ash leaf spots, shagreen patches MR, seizures, cerebral calcifications
60
Ataxia telangeictasia
``` AR (only phakomatoses that is AR) dilated conj vessels, impaired convergence, nystagmus, IgA deficiency = increase infections/malignancy MR cerebellar ataxia thymic hypoplasia ```
61
Wyburn-Mason syndrome
sporadic Racemose hemangioma of retina AV malformations in ipsilateral brain - Siezures, mental changes, VF defects)
62
retinal cavernous hemangioma
cluster of grapes | fluid levels without leakage on FA
63
Incontinentia Pigmenti
Xlinked Dom - only in females, lethal in males proliferative retinal vasculopathy RD retrolental membrane alopecia microcephaly, hydrocephalus, seizures, MR missing or cone shaped teeth
64
DDx for intraocular cartilage
PHPV medulloepithelioma teratoma trisomy 13
65
When to treat ROP
zone 1 stage 3 zone 1 any stage with plus disease zone 2 stage 2 or 3 with plus disease
66
DDx for retinal dragging
ROP PHPV FEVR Toxocara
67
ROP threshold disease
Zone 1 or 2, stage 3 with plus disease | 5 contiguous or 8 noncontiguous hours
68
FEVR
AD or X linked chrom 11 (EVR 1,2,3) progressive developmental abnormalitiy of peripheral retinal vasculature
69
Coats' disease
sporadic, M >>> F (10:1) 90% unilateral leukocoria, strabismus telangiectatic vessels with subretinal lipid in OPL, noncalcified yellow subretinal lesions Exudative RD in 2/3 FA - blood-fluid levels with saccular aneurysms
70
Norrie's Disease
``` X linked bilateral leukocoria (white/hemorrhagic retrolental mass) , peripheral NV, retinal necrosis ``` ASSOC: deafness MR
71
Stargardt's
AR juvenile macular degeneration with flecks nyctolopia and decr VA in first 2 decades bilateral pisciform, yellow-white flecks, beaten-bronze appearance, bull's eye maculopathy Dark choroid due to lipofuscin accumulation in lipofuscin
72
Best's disease
AD

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