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Syndromes Flashcards

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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
Alport's Syndrome
anterior lenticonus hereditary nephritis hematuria - hemorrhagic nephropathy sensorineural deafness
26
Lowe's Syndrome
``` 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 ```
27
Hallermann-Streiff syndrome
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
28
Down's syndrome lens abnormalities
snowflake cataract and keratoconus
29
Galactosemia
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
30
Fabry's
alpha-galactosidase A deficiency X-linked corneal verticullata spoke-like cataract renal disorder cardiovascular abnormalities
31
oculocutaneous albinism
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
32
Ocular albinism
``` X-linked (AR rare) decr melanosomes less iris transillumination defects female carriers with mosaic pattern ASSOC: deafness ```
33
Chediak-Higashi
``` Tyrosine Pos ocularcutaneous albinism MR freqent infections large melanosomes on skin biopsy reticuloendothelial dysnfucntion with pancytopenia higher risk lymphoma/leukemia ```
34
Hermansky-Pudlak Syndrome
Tyrosine Pos Oculocutaneous albinism Hemorrhagic diathesis Abnormal platelets Peurto Rican
35
Trisomy 21
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)
36
Trisomy 18 - Edwards syndrome
``` hypertelorism epicanthus hypoplastic supraorbital ridges colobomatous microphthalmos cataract microcornea congenital glaucoma ```
37
Trisomy 13 - Patau syndrome
colobomatous microphthalmos cataract PHPV (can be bilateral) intraocular cartilege in cilicary body coloboma
38
Diseases with intraocular cartilage
Trisomy 13
39
Color blindness: | Congenital vs acquired
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
Color blindness inheritance patterns
All X linked (deuteranopia/deuteranomaly, protonanomaly, protonanopia, blue monochromatism) EXCEPT - Tritanomaly/tritanopia (AD, M and females) AND Red monochromatism (AR)
41
Red Monochromatism
``` AR cones absent, nonprogressive achromatopsia nystagmus, normal retinal exam ERG: normal scotopic, reduced photopic Genes: CNGA3, CNGB3 ```
42
Blue monochromatism
``` X linked have only blue cones nystagmus photophobia, myopia ERG: absent cone response, nomrla rod response ```
43
Best's Disease
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
Familial drusen
``` AD EFEMP1 (2p16-21) manifests before age 50, drusen nasal to disc small round to oval deposits some progress to AMD/CNV ```
45
Maternal inherited diabetes and deafness (MIDD)
``` mitochondrial inheritance ptosis CEOP Ragged red fibers VF with annular defect OCT with photoreceptor dropout ```
46
North Carolina Macular Dystrophy
AD MCDR1, chrom 6 onset in 1st decade with progression to choroiretinal atrophy with staphyloma, stabilizes in teenage years CNV possible
47
Sorsby's Macular Dystrophy (pseudoinflammatory)
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
Pattern dystrophy Testing? VA? Types?
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
progressive cone dystrophy
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
retinitis pigmentosa inheritance and prognosis classic findings TX
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
Associations with RP
``` keratoconus macular cystoid degeneration Coat's disease optic nerve drusen astrocytic hamartoms of the ON myopia ```
52
Pathology in RP
photoreceptor atrophy | RPE cells invade the retina and surrounding retinal vessels.
53
Differential diagnosis for tunnel vision
RP, functional, gyrate atrophy, vitamin A toxicity, occipital lobe stroke
54
DDx for nyctolopia
RP, rod dystrophy, uncorrected myopia, Vitamin A deficiency, sync deficiency, choroideremia, gyrate atrophy, CSNB, Goldman-Favre disease
55
DDx for salt and pepper fundus
RP, rubella, Leber's congenital amaurosis, syphylis, cystinosis, phenothiazine toxicity, pattern dystrophy, albanism/RP/choroideremia carriers
56
Treatable varients of RP and their treatments
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
DDx for negative ERG
``` CSNB1 CSNB2 CRVO MAR X-linked retinoschesis Goldman-Favre Duchenne's muscular dystrophy ```
58
DDx for infantile nystagmus and normal fundus
``` Leber's congenital amaurosis albinism achromatopsia CSNB congenital motor nystagmus ```
59
Leber's congenital amaurosis
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
Associations/complications of Leber's congenital amaurosis
``` Cataract keratoconus hyperopia macular coloboma MR, deafness, seizures ```
61
Sectoral RP unilateral RP inferse RP RP sine pigmento
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
Usher's syndrome
RP with deafness, ataxia, MR Type 1: night blindness, profound deafness, ataxia Type 2: night blindness, partial deafness, no ataxia
63
Eye syndromes associated with hearing loss
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
Refsum's
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
Bassen-Kornzweig syndrome
``` Abetalipoproteinemia AR inability to transport and absorb lipids RP (without bony spicules) Bitot spots ataxic neuropathy, growth retardation, coagulopathy ```
66
Lawrence-Moon-Bardet-Biedl syndrome
``` AR pigmentary retinopathy with flat ERG MR hypogonadism short stature ``` Bardet-Biedl:polydactyly and obesity, hypogonadism, renal abnormalities Lawrence-Moon: spastic paraplegia
67
Speilmeyer-Vogt-Batten-Mayou syndrome
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
CPEO
mitochondrial inheritance retinal degeneration, ptosis, ophthalmoplegia, strabismus facial weakness, dysphagia, small stature, limb girdle myopathy
69
Olivopontocerebellar atrophy
retinal degeneration, tremors, ataxia, dysarthria
70
Alstrom's disease
``` RP with profound vision loss in 1st decade of life DM obesity deafness renal failure baldness acanthosis nigricans hypogenitalism ```
71
congenital stationary night blindness
nyctalopiia nonprogressive rod disroders may have paradoxical pupillary dilation to light
72
central areolar choroidal dystrophy
``` AD RDS (peripherin) decreased vision in 40s RPE mottling in macula --- to geographic atrophy (visible choroidal vessels) rare risk of CNV ```
73
Bietti's' cyrostalline retinopathy
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
Fundus albipunctatus
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
Kandori's flecked retina
AR | yellow-white spots in equatorial region (spares macula)
76
CSNB with normal appearing fundus
Nougaret type - AD no rod function Riggs type - AR some rod function Schubert-Bornschein type - AR or X, some rod function, myopia
77
Ogachi's disease
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
Choroideremia
``` 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
Gyrate atrophy
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
``` Mucopolysaccharidosis Retinopathy only? Retinopathy and corneal clouding? Corneal clouding only? X-linked? ```
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
Sphingolipidoses with cherry red spot
Tay-sachs - most common, (hexosaminodase A deficiency), Sandhoff's (extensive visceral involvement), Neimann-Pick (with macular halo/optic atrophy, hepatosplenomegaly
82
DDx for cherry red spot
``` CRAO commotio retinae macular hole macular hemorrhage ocular ischemic syndrome subacute sclerosing panencephalitis quinine toxicity methanol toxicity ``` Tay-sachs, Niemann Pick, Sandhoff's
83
Fabry's disease
X-linked Alpha-galactosidase A deficiency corneal verticullata, tortuous conjunctival/retinal vessels, posterior lenticonus
84
Cystinosis
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
LCHAD Deficiency
mitochondrial fatty acid beta-oxidation disorder normal fundus at birth then RPE pigment dispersion leading to choroiretinal atrophy Posterior staphyloma, myopia, cataracts
86
Juvenile retinoschesis
``` 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
Goldmann-Favre disease (Enhanced S-cone syndrome)
``` 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
DDx for nonleaking 'CME'
``` Juvenile retinoschesis Usher syndrome nicotinic acid maculopathy Goldmann-Favre syndrome Retinitis pigmentosa Abraxane, Taxotere, Taxol ``` JUNG and the Restless vs AT&T
89
Gardner's syndrome
``` 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
Waardenburg
``` Hypertelorism colchlear deafness white forelock heterochromic iris RPE pigment disturbace PAX3 ```
91
Ddx for bull's eye maculopathy
``` stargardt disease CQ/HCQ toxicity cone dystrophy Dry AMD Neuronal ceroid lipofuscinosese (Batten Dx) Olivopontocerebellar atrophy Chronic mac hole central areolar choroidal dystrophy ```
92
Crystalline retinopathy
Systemic Drug induced Ocular
93
Waardenburg
``` Hypertelorism colchlear deafness white forelock heterochromic iris RPE pigment disturbace PAX3 ```
94
Ddx for bull's eye maculopathy
``` stargardt disease CQ/HCQ toxicity cone dystrophy Dry AMD Neuronal ceroid lipofuscinosese (Batten Dx) Olivopontocerebellar atrophy Chronic mac hole central areolar choroidal dystrophy ```
95
Crystalline retinopathy
Systemic Drug induced Ocular

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