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Pediatrics > Retina disorders > Flashcards

Retina disorders Flashcards

1
Q

FEVR

A

AD or X linked recessive

Tx: prophylactic laser (controversial), RD repair

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2
Q

Coats disease (Levers miliary aneurysms)

A

Nonhereditary
Males (10:1)
90% unilateral, 50% progressive
-Telangectatic vessels leak, large amt of subretinal lipid in OPL
-exudative RD in 66%
-subretinal and intraretinal cholesterol deposits
-FA: blood fluid levels, saccular aneurysms

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3
Q

Norrie’s disease

A

X linked recessive

  • defect of retinal development
  • bilateral
  • retinal dysplasia, peripheral NV, hemorrhagic RD, retinal necrosis
  • assoc with deafness and MR
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4
Q

Fundus flavimaculatus

A

AR
-pisciform yellow-white flecks at level of RPE
ABCA4
AKA Stargardts: most common hereditary macular dystrophy
-FA: dark choroid due to accumulation of lipofuscin in RPE

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5
Q

Best’s disease

A

AD

  • 2nd most common inheritable macular dystrophy
  • EOG abnormal
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6
Q

TIMP-3

A

Sorsby’s (pseudoinflammatory macular dystrophy)

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7
Q

Pattern dystrophies

A

normal ERG, abnormal EOG

  • Adult vitelliform
  • Sjogrens reticular: fishnet configuration
  • Butterfly: gray yellow butterfly lesion
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8
Q

Congenital achromatopsia

A 
Complete rod monochromatism
-Chrom 14 (ACHM1); AR
-20/200 vision
VF: central scotoma
ERG: normal scotopic, abnormal photopic
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9
Q

Blue cone monochromatism

A

X linked recessive
20/40-20/200
ERG: absent cone response, normal rod response

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10
Q

RP

A

Most AR

  • photoreceptor atrophy including outer nuclear layer (inner layers preserved)
  • RPE cells invade retina and surround retinal vessels
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11
Q

Treatable RP

A

Bassen-Kornzweig (abetalipoproteinemia)
Refsums (elevated phytanic acid)
Gyrate atrophy (elevated ornithine)

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12
Q

Leber’s congenital amaurosis

A 
RP variant
AR
Blind or severe vision loss in infancy 
Rubs eyes
ERG flat
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13
Q

Usher’s syndrome

A

AR
Most common syndrome assoc with RP
RP and deafness, ataxia, MR, low phosphate (rickets)

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14
Q

Refsum’s disease

A

AR
def of phytanic acid oxidase
Dx: increased serum copper and ceruloplasmin
Tx: phytanic acid restriction

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15
Q

Bassen-Kornzweig syndrome

A 
AR
Abetalipoproteinemia 
-inability to transport and absorb lipids 
-def of ADEK 
-Tx: vit A and E supplements
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16
Q

Lawrence-Moon-Bardet-Biedl syndrome

A

AR
L-M and B-B: pigmentary retinopathy, MR, hypogonadism, short
B-B: polydactyly, obesity
L-M: spastic paraplegia

17
Q

Batten’s disease

A

Neuronal ceroid lipofuscinosis

  • Seizures, dementia, ataxia, MR
  • RP
18
Q

Congenital stationary night blindness

A

nonprogressive

  • can have normal fundus or abnormal fundus (see below)
  • Fundus albipunctatus (AR): normalization of scotopic ERG after 4-8hrs of dark adaptation
  • Oguchi’s disease: Mizuo-Nakamura phenomenon (golden brown fundus in light adapted state, normal colored fundus in dark adapted state); absent B wave
19
Q

Choroideremia

A

X linked recessive

20
Q

Gyrate atrophy

A

AR

  • def ornithine transferase
  • Tx: restrict arginine and protein in diet, B6 supplementation
21
Q

Juvenile retinoschisis

A

X linked recessive

  • Males, bilateral, present at birth, progressive
  • Cleavage at NFL
  • NO leakage on FA
22
Q

Goldmann-Favre

A

AR

  • optically empty vitreous with strands and veils
  • bilateral central and peripheral schisis
  • EOG abn (unlike juvenile schisis)
23
Q

Wagner syndrome

A

AD

  • opticall empty vitreous
  • cataract, lattice-like changes, myopia
24
Q

Stickler’s syndrome

A

AD

  • arthro-ophthalmopathy
  • like Wagners with severe myopia and marfinoid habitus
25
Q

Jansen syndrome

A

Wagner +RD

26
Q

Tyrosinase negative albinism

A

NO pigment

Chrom 11

27
Q

Tyrosinase positive albinism

A

some pigment
Chrom 15
less severe

28
Q

Chediak-Higashi

A

Pancytopenia, recurrent infections, malignancies

29
Q

Hermansky Pudlak

A

abnormal platelets, Puerto rican descent, pulmonary fibrosis, pigmentless

30
Q

Aicardi’s syndrome

A

X linked dominant (lethal males)

  • lacunar defects in RPE
  • infantile spasms, severe MR, agenesis of corpus callosum
31
Q

Most common color vision abnormality

A

Deuteranomalous

32
Q

Rod monochromatism

A

AR

  • cones absent (complete achromatopsia)
  • poor vision and nystagmus
33
Q

Blue cone monochromatism

A

X linked recessive

-nysgtagmus, decreased vision, photophobia, myopia

34
Q

2ndary tumors in RB

A
  • Osteogenic sarcoma (femur)
  • Melanoma of eye or orbit
  • lymphoma, leukemia, rhabdo, medulloblastoma
35
Q

Diagnosis of RB

A
  • Aqueous to plasma LDH ration >1
  • US: acoustic solidity and high internal reflectivity
  • MRI
36
Q

What syndrome is assoc with RB?

A

-13q deletion syndrome: microcephaly, hypertelorism, microphthalmos, ptosis, epicanthus

37
Q

What cancer can cause spontaneous hyphema in children?

A

Leukemia

-often affects choroid with retinal hemorrhages

Pediatrics (9 decks)

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