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Syndromes Flashcards

1
Q

Goldenhar syndrome

A 
Aka oculo-auriculo-vertebral syndrome
Abnormalities of 1 and 2nd brachial clefts
Limbal dermoids
Coloboma of upper/lower eyelid
Preauricular skin tags
Congenital heart disease
Vertebral abnormalities 
CNS abnormalities 
Associated with Duane's syndrome
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2
Q

Coloboma of lower eyelid

A

Treacher-Collins syndrome

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3
Q

Differential Diagnosis for infants with poor vision and normal ocular structures

A 
Leber's congenital amaurosis
Achromatopsia
CSNB
albinism
optic nerve hypoplasia
TORCHs infections
Occipital lobe damage
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4
Q

nanophtalmos

A

small normal eye
associated hyperopia, acute angle closure glaucoma
increased risk of choroidal effusion during surgery

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5
Q

Microphthalmos with cyst

A

failure of embryonic fissure to close
associated with congenital rubella, congenital toxoplasmosis, Trisomy 13,15, deletion of 18, maternal vit A deficiency and thalidomide ingestion

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6
Q

Treacher-Collins syndrome

A

= mandibulofacial dysostosis
midface hypoplasia
dental and ear abnormalities, small ear/jaw.
lateral lid defects, absent medial lashes, poorly developed puncta and meibomian glands

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7
Q

Hypertelorism

associated with?

A

increased interpupillary distance 2/2 increased distance between medial orbital walls.
assoc with - blepharophimosis, frontal meningoceles/encephaloceles, fibrous displasia

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8
Q

Craniosynostoses

A

premature closure of sutures

-midface hypoplasia, proptosis, telecanthus, V-pattern XT, oral/dental abnml, respiratory problems.

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9
Q

Crouzon’s Syndrome

A

AD or sporadic
absence of forward development of cranium/midface
findings: proptosis, V-pattern XT, nystagmus, optic atrophy (25-50%)
also: MR, maxillary hypoplasia, parrot’s beak nose, ext auditory canal atresia, anodonia

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10
Q

Apert’s Syndrome

A

Crouzon’s + syndactyly
AD
associated with increased paternal age

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11
Q

Pierre Robin Sequence

A

Assoc: RD, congenital glaucoma, cataracts, high myopia
Also: micrognathia, cleft palate
Associated with Stickler’s syndrome

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12
Q

Hemifacial Microsomia

A

Assoc: upper lid coloboma, strabismus

facial assymetry, microtia, acrostomia, orbital dystopia, ear tags, vertebral anomalies

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13
Q

Waardenburg’s Syndrome

A 
AD
lateral displacement of inner canthi/puncta
confluent eyebrows, 
heterochromic iridis
fundus hypopigmentation
Assoc: deafness, white forelock
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14
Q

Hallermann-Streiff Syndrome

A

sporadic
bilateral cataracts, glaucoma, microphakia, microcornea
mandibular hypoplasia,
beaked nose

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15
Q

fetal alcohol syndrome

A

short palpebral fissure, telecanthus, comitant strabismus, optic disc anomalies, sometimes high myopia,
Also: Thin vermilion border, MR, small birth wt, CV, skeletal abnormalities

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16
Q

Riley-day syndrome

A

AR
familaial dysautonomia (block of NE production)
eastern european jews
decr K sensation, no tearing, neurogrophic keratitis, light near dissociation
incr risk with anesthesia
High urinary HVA and VMA, low HMPT

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17
Q

De Morsier’s Syndrome

A 
septo-optic dysplasia
bilateral ON hypoplasia
spetum pellucidum abnormalitiy
pituitary/hypopituitary hypoplasia
agenesis of corpus callosum
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18
Q

Kjer’s syndrome

A

autosomal dominant optic atrophy
OPA 1
temporal wedge of pallor
bilateral

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19
Q

Bjer’s syndrome

A 
AR optic atrophy
Ataxia
hypotonia
MR
nystagmus
M > F
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20
Q

Wolfram’s syndrome

A 
AR
age 5-21
diffuse optic atrophy
DIDMOAD (DI, DM,Optic atrophy, deafness)
Ataxia, seizures, MR
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21
Q

Aicardi Syndrome

A 
X-link Dom (only females, lethal in males)
Infantile spasms
MR
corpus callosum agensis
peripapillary chorioretinal lacunae
optic nerve anomalies (coloboma)
microphthalmos
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22
Q

Alagille’s syndrome

A

familial intrahepatic cholestrasis
posterior embyrotoxin
bilateral optic nerve drusen

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23
Q

Kearns Sayer syndrome

A 
onset before age 15, maternal mitochhondrial
CPEO
ptosis
pigmentary retinopathy
cardiac conudction defects - heart block
cerebellar ataxia
Path: Ragged Red fibers
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24
Q

MELAS

A

mitochondrial encephalopathy, lactic acidosis, stroke-like episodes
retrochiasmal visual loss, headaches, seizures, CPEO, optic neuropathy, pigmentary retinopathy, hearing loss
Ragged red fibers on muscle biopsy
CT scan - basal ganglia calcification

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25
Q

Alport’s Syndrome

A

anterior lenticonus
hereditary nephritis
hematuria - hemorrhagic nephropathy
sensorineural deafness

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26
Q

Lowe’s Syndrome

A 
Oculo-Cerebro-Renal syndrome
X-linked
physical and mental retardation
hypotonia
renal tubular acidosis
Flat, discoid cataract with retention of nuclei (100%)
Glaucoma (50%)
Maternal carriers will have white punctate cortical opacities
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27
Q

Hallermann-Streiff syndrome

A

mandibulo-oculofacial dysmorphia
hypoplasia of mandible with bird-like facies
microphakia, microcornea, glaucoma,
both cataracts and glaucoma
can get lens rupture and inflam from phacoanaphylactic uveitis

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28
Q

Down’s syndrome lens abnormalities

A

snowflake cataract and keratoconus

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29
Q

Galactosemia

A

AR
defect in galactose-1-P-uridyl transferase (most common), galactokinase, or UDP galactose-4-epimerase
inability to convert glactose to glucose

Oil droplet gacatarct
MR, hepatomegaly, jaundice, malnutrition

Dietary restriction of lactose

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30
Q

Fabry’s

A

alpha-galactosidase A deficiency
X-linked
corneal verticullata
spoke-like cataract

renal disorder
cardiovascular abnormalities

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31
Q

oculocutaneous albinism

A

AR (mostly, some AD)
nystagmus
foveal hypoplasia

Tyrosine negative - no pigment
VA 20/200, chrom 15 (same as Angelman’s- mom/prader-willi -dad)
Hermansky-Pudlak - Puerto Rican, Ty +, hemorrhagic diathesis with abnormal platelets
Chediak-Higashi - MR, frequent infections, reticuloendothelial incompetence, pancytopenia, leukemia/lymphoma risk higher

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32
Q

Ocular albinism

A 
X-linked (AR rare)
decr melanosomes
less iris transillumination defects
female carriers with mosaic pattern
ASSOC: deafness
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33
Q

Chediak-Higashi

A 
Tyrosine Pos ocularcutaneous albinism
MR
freqent infections
large melanosomes on skin biopsy
reticuloendothelial dysnfucntion with pancytopenia
higher risk lymphoma/leukemia
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34
Q

Hermansky-Pudlak Syndrome

A

Tyrosine Pos Oculocutaneous albinism
Hemorrhagic diathesis
Abnormal platelets
Peurto Rican

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35
Q

Trisomy 21

A

Eye findings: Epicanthal folds, eyelid ectropion, Brushfield spots, myopia, keratoconus, esotropia (1/3), nystagums, infantile glaucoma, snowflake cataract
spoke-like BV from ON (incr number)

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36
Q

Trisomy 18 - Edwards syndrome

A 
hypertelorism
epicanthus
hypoplastic supraorbital ridges
colobomatous microphthalmos
cataract
microcornea
congenital glaucoma
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37
Q

Trisomy 13 - Patau syndrome

A

colobomatous microphthalmos
cataract
PHPV (can be bilateral)
intraocular cartilege in cilicary body coloboma

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38
Q

Diseases with intraocular cartilage

A

Trisomy 13

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39
Q

Color blindness:

Congenital vs acquired

A

Cong: M > F, nonprogressive, normal eye exam, bilateral/symmetric
Usually X linked - deuteranomalous trichomats (Red-green axis abnormal)

Acquired:
M=F, slowly progressive
blue-yellow axis

40
Q

Color blindness inheritance patterns

A

All X linked (deuteranopia/deuteranomaly, protonanomaly, protonanopia, blue monochromatism)
EXCEPT - Tritanomaly/tritanopia (AD, M and females)
AND
Red monochromatism (AR)

41
Q

Red Monochromatism

A 
AR
cones absent, nonprogressive
achromatopsia
nystagmus, normal retinal exam
ERG: normal scotopic, reduced photopic
Genes: CNGA3, CNGB3
42
Q

Blue monochromatism

A 
X linked
have only blue cones 
nystagmus
photophobia, myopia
ERG: absent cone response, nomrla rod response
43
Q

Best’s Disease

A

AD
bestrophin (11q13)
exudative central macular detachment
assoc: strab and hyperopia
Previtelliform: Small round submacular yellow dot
Vitelliform: Egg you/fried egg appearance
Scrambled egg stage: irreg subretinal spots
Cyst stage
Speudohypopyon stage: RPE atrophy
Round atrophy stage: atrophic scar VA appro 20/100
20% get CNV
ERG normal, EOG - ABNORMAL

44
Q

Familial drusen

A 
AD
EFEMP1 (2p16-21)
manifests before age 50, drusen nasal to disc
small round to oval deposits
some progress to AMD/CNV
45
Q

Maternal inherited diabetes and deafness (MIDD)

A 
mitochondrial inheritance 
ptosis CEOP
Ragged red fibers
VF with annular defect
OCT with photoreceptor dropout
46
Q

North Carolina Macular Dystrophy

A

AD
MCDR1, chrom 6
onset in 1st decade with progression to choroiretinal atrophy with staphyloma, stabilizes in teenage years
CNV possible

47
Q

Sorsby’s Macular Dystrophy (pseudoinflammatory)

A

AD
atrophy, edema, hemorrhage, exudate.
Decreased VA and color vision between age 40-50
classic presentation - bilateral CNV in 40 yr
dark adaptation is delayed
ERG/EOG subnormal

48
Q

Pattern dystrophy
Testing?
VA?
Types?

A

usually AD, assoc with RDS/peripherin gene
central pigmentary changes
good central vision
normal ERG, abnormal EOG

Types: Sjogren’s reticular = fishnet (hypo on FA)
Butterfly = butterfly lesions with surrounding depigmentation, onset 20-50 yo (RSD peripherin)
Adult vitelliform: small solitary yellow macular lesion - CNV more common than bests NORMAL EOG.

49
Q

progressive cone dystrophy

A

AD (sometimes x-linked)
progressive dysfunction of cones, normal rods
onsetn 3rd decade
decreased VA, dyschromatopsia, photophobia
central scotoma, nystagmus (25%), NFL loss, granular appearance, bull’s eye maculopathy (can mimic stargardt’s

OCT - loss of elipsoid and ELM
ERG - absent photopic, normal scotopic

50
Q

retinitis pigmentosa
inheritance and prognosis
classic findings
TX

A

AR (40%) AD (20%) X-linked (5%), sporadic
X-linked - worst prognosis
AD - least severe form later onset
boney spicules, arteriolar attentuation, waxy disc pallor, retinal atrophy, cataract, CME
TX: low vision aids, dark glasses, Vitamin A, Omega 3 FA

51
Q

Associations with RP

A 
keratoconus
macular cystoid degeneration
Coat's disease
optic nerve drusen
astrocytic hamartoms of the ON
myopia
52
Q

Pathology in RP

A

photoreceptor atrophy

RPE cells invade the retina and surrounding retinal vessels.

53
Q

Differential diagnosis for tunnel vision

A

RP, functional, gyrate atrophy, vitamin A toxicity, occipital lobe stroke

54
Q

DDx for nyctolopia

A

RP, rod dystrophy, uncorrected myopia, Vitamin A deficiency, sync deficiency, choroideremia, gyrate atrophy, CSNB, Goldman-Favre disease

55
Q

DDx for salt and pepper fundus

A

RP, rubella, Leber’s congenital amaurosis, syphylis, cystinosis, phenothiazine toxicity, pattern dystrophy, albanism/RP/choroideremia carriers

56
Q

Treatable varients of RP and their treatments

A

Bassen-Kornzweig (Abetalipoproteinemia) - Vit A and E supplementation
Refsum’s - dietary restriction of animal fats/ milk products and leavy green vegetables
Gyrate atrophy - restrict arginine and protein in diet. B6 supplementation

57
Q

DDx for negative ERG

A 
CSNB1
CSNB2
CRVO
MAR
X-linked retinoschesis
Goldman-Favre
Duchenne's muscular dystrophy
58
Q

DDx for infantile nystagmus and normal fundus

A 
Leber's congenital amaurosis
albinism
achromatopsia
CSNB
congenital motor nystagmus
59
Q

Leber’s congenital amaurosis

A

AR
severe visual impairment
nystagmus, hyperopia, poorly reactive pupils, with pigmentary changes
oculodigital sign - rub eyes to elicit entopic retinal stimulation
Path: diffuse absence of photoreceptors
ERG flat or low

60
Q

Associations/complications of Leber’s congenital amaurosis

A 
Cataract
keratoconus
hyperopia
macular coloboma
MR, deafness, seizures
61
Q

Sectoral RP
unilateral RP
inferse RP
RP sine pigmento

A

sector: limited or focal areas of change - usually inferonasal, ERG abnormal, non progressive
Unilateral: Very very rare
Inverse RP: posterior pole affected more than periphery. FA with dark choroid
RP sine Pigmento: no retinal pigmentary changes

62
Q

Usher’s syndrome

A

RP with deafness, ataxia, MR
Type 1: night blindness, profound deafness, ataxia
Type 2: night blindness, partial deafness, no ataxia

63
Q

Eye syndromes associated with hearing loss

A

Cogan’s (IK + hearing loss)
Stickler’s (vitreous changes, joint/orofacial, hearing loss)
Waardenburg-Klein (iris heterochromia, white forelock)
Duane’s (15% have hearing loss)

64
Q

Refsum’s

A

deficiency of phytanic acid axidase - unable to metabolize fatty acids
Phytanic acid accumulates in RPE cells
= atypical RP, cataracts, prominent corneal nerves
ataxia, peripheral neuropathy deafness, anosmia, ichthyosis, cardiac hepatomegaly, MR
Dx: incr serum CU and ceruloplasmin
Tx: dietary restriction of animal fats, milk products and leafy green vegetables

65
Q

Bassen-Kornzweig syndrome

A 
Abetalipoproteinemia
AR
inability to transport and absorb lipids
RP (without bony spicules) 
Bitot spots
ataxic neuropathy, growth retardation, coagulopathy
66
Q

Lawrence-Moon-Bardet-Biedl syndrome

A 
AR
pigmentary retinopathy with flat ERG
MR
hypogonadism
short stature

Bardet-Biedl:polydactyly and obesity, hypogonadism, renal abnormalities

Lawrence-Moon: spastic paraplegia

67
Q

Speilmeyer-Vogt-Batten-Mayou syndrome

A

neuronal ceroid lipofuscinosis
Jewish females age 2-4
RP retinal degeneration with bull’s eye maculopathy
Seizures, dementia, ataxia
path: vacuolization of peripheral lymphocytes

68
Q

CPEO

A

mitochondrial inheritance
retinal degeneration, ptosis, ophthalmoplegia, strabismus

facial weakness, dysphagia, small stature, limb girdle myopathy

69
Q

Olivopontocerebellar atrophy

A

retinal degeneration, tremors, ataxia, dysarthria

70
Q

Alstrom’s disease

A 
RP with profound vision loss in 1st decade of life
DM
obesity
deafness
renal failure
baldness
acanthosis nigricans
hypogenitalism
71
Q

congenital stationary night blindness

A

nyctalopiia
nonprogressive rod disroders
may have paradoxical pupillary dilation to light

72
Q

central areolar choroidal dystrophy

A 
AD
RDS (peripherin)
decreased vision in 40s
RPE mottling in macula --- to geographic atrophy (visible choroidal vessels)
rare risk of CNV
73
Q

Bietti’s’ cyrostalline retinopathy

A

AR
decreased VA in 5th decade
yellow-white refractile spots throughout fundus
geographic atrophy
can have crystals in the peripheral corneal stroma
ERG reduced
FA - crystals hyperflouresce

74
Q

Fundus albipunctatus

A

AR
CSNB with abnormal fundus
midperipheral deep yellow-white spots that spare the macula
ERG is normal after 4-8 hours of dark adaptation

75
Q

Kandori’s flecked retina

A

AR

yellow-white spots in equatorial region (spares macula)

76
Q

CSNB with normal appearing fundus

A

Nougaret type - AD no rod function
Riggs type - AR some rod function
Schubert-Bornschein type - AR or X, some rod function, myopia

77
Q

Ogachi’s disease

A

CSNB with Mizou-Nakamura phenomenon: Golden brown fundus in light adapted state, mormal fundus in dark-adapted state
ERG with absent b wave only scotopic a wave

78
Q

Choroideremia

A 
X-linked, CHM gene
marked atrophy of the choroid and RPE
onset late childhood - nyctalopia, photophobia, constricted VF
scalloped RPE atrophy 
ERG markedly reduced
79
Q

Gyrate atrophy

A

AR 10q26
OAT - ornithine aminotransferase deficiency
progressive retinal degeneration, starts peripherally — centrally
scalloped areas absent of choroicapillaris with abrupt transition to normal retina
starts in 1st decade with night blindness
Tx: dietary restriction of arginine, Bit B6

80
Q 
Mucopolysaccharidosis
Retinopathy only?
Retinopathy and corneal clouding?
Corneal clouding only?
X-linked?
A

retinopathy: Hunter (type 2), sanfilippo (type III)
corneal only: morquio (type IV), sly (VII)
retinopathy and corneal clouding: hurler (Ia), Scheie Ib, Maroteaux-Lamy (VI)

81
Q

Sphingolipidoses with cherry red spot

A

Tay-sachs - most common, (hexosaminodase A deficiency), Sandhoff’s (extensive visceral involvement), Neimann-Pick (with macular halo/optic atrophy, hepatosplenomegaly

82
Q

DDx for cherry red spot

A 
CRAO
commotio retinae
macular hole
macular hemorrhage
ocular ischemic syndrome
subacute sclerosing panencephalitis
quinine toxicity
methanol toxicity

Tay-sachs, Niemann Pick, Sandhoff’s

83
Q

Fabry’s disease

A

X-linked
Alpha-galactosidase A deficiency
corneal verticullata, tortuous conjunctival/retinal vessels, posterior lenticonus

84
Q

Cystinosis

A

lysosomes cannot excrete cystine
infantile form (AR) = Fanconi’s syndrome - polyruria, growth retardation, rickets, renal failure, salt and pepper fundus
Adolescent form (AR) less severe nephropathy
Adult form: benigh, no renal porblems

Tx: cystamine

85
Q

LCHAD Deficiency

A

mitochondrial fatty acid beta-oxidation disorder
normal fundus at birth then RPE pigment dispersion
leading to choroiretinal atrophy
Posterior staphyloma, myopia, cataracts

86
Q

Juvenile retinoschesis

A 
X-linked
retinoschesin
Bilateral
Foveal retinoschesis with Nonleaking CME
marked sclerosis of blood vessels with vitreous veils - that can bleed = avoid trauma
vitreous cells
hyperopia
ERG - normal A wave with reduced b wave, reduced oscillatory potentials
EOG normal
87
Q

Goldmann-Favre disease (Enhanced S-cone syndrome)

A 
AR
nyctalopia and constricted VF
optically empty vitreous, bilateral central and peripheral retinoschesis
lattice degneration
optic disc pallor
cataracts
ERG - markedly reduced
EOG abnormal
88
Q

DDx for nonleaking ‘CME’

A 
Juvenile retinoschesis
Usher syndrome
nicotinic acid maculopathy
Goldmann-Favre syndrome
Retinitis pigmentosa
Abraxane, Taxotere, Taxol

JUNG and the Restless vs AT&T

89
Q

Gardner’s syndrome

A 
AD
familial polyposis
APC gene on 5q21
1000s of GI polpys with high malignant potential
osteomas
epidermoid cysts
desmoid tumors
beartracks
CHRPEs with comet like hypopigmentation pointed toward the disc
90
Q

Waardenburg

A 
Hypertelorism
colchlear deafness
white forelock
heterochromic iris
RPE pigment disturbace
PAX3
91
Q

Ddx for bull’s eye maculopathy

A 
stargardt disease
CQ/HCQ toxicity
cone dystrophy
Dry AMD
Neuronal ceroid lipofuscinosese (Batten Dx)
Olivopontocerebellar atrophy
Chronic mac hole 
central areolar choroidal dystrophy
92
Q

Crystalline retinopathy

A

Systemic

Drug induced

Ocular

93
Q

Waardenburg

A 
Hypertelorism
colchlear deafness
white forelock
heterochromic iris
RPE pigment disturbace
PAX3
94
Q

Ddx for bull’s eye maculopathy

A 
stargardt disease
CQ/HCQ toxicity
cone dystrophy
Dry AMD
Neuronal ceroid lipofuscinosese (Batten Dx)
Olivopontocerebellar atrophy
Chronic mac hole 
central areolar choroidal dystrophy
95
Q

Crystalline retinopathy

A

Systemic

Drug induced

Ocular

Peds (5 decks)

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