Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Retina and Vitreous > Choroidal Disease, Hereditary Retinal and Choroidal Dystrophies, and Retinal Degenerations Associated with Drugs and Systemic Disease > Flashcards

Choroidal Disease, Hereditary Retinal and Choroidal Dystrophies, and Retinal Degenerations Associated with Drugs and Systemic Disease Flashcards

1
Q

% males with color deficiency. females? inheritance in most cases?

A

5-8%
0.5%
X-recessive

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

severely reduced cone-flicker ERG with preserved S-cone ERG responsen and normal rod ERGs. Inheritance?

A

S-cone monochromatism. XR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

congenital stationary night blindness:

  1. most common inheritance pattern
  2. most common presenting symptom
  3. ERG findings
A
  1. XR
  2. nyctalopia
  3. negative ERG (a wave normal, b wave abnormal; inner retina worse than photoreceptors)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

congenital nyctalopia with numerous small white dots in retina that spare fovea:

  1. diagnosis
  2. mutation and protein
  3. prognosis
A
  1. fundus albipunctatus
  2. RDH5 and retinol dehydrogenase
  3. present at birth but not progressive
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Japanese patient with congenital nyctalopia and yellow, iridescent retinal sheen after light exposure

A

Oguchi disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

characteristic VF of RP

A

ring scotoma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

fundus findings in RP

A

bone spicule pigmentation, attenuation of retinal vessels, RPE atrophy, waxy pallor of disc, preretinal gliosis of macula, CME, vitreous degeneration, cataract

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

ERG in RP

A
  • rod dysfunction > cone
  • a and b waves diminished, b waves diminished and prolonged
  • late RP may show undetectable ERG
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

OCT in RP

A

loss of ellipsoid line, generalized thinning. +/- CME

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

RP variants:

  1. RP without bone spicules
  2. RP more prominent in macula
  3. RP only in a certain section of the retina
  4. RP with multiple white spots instead of bone spicules
  5. RP only in one eye
A
  1. RP sine pigmento
  2. Inverse RP (or cone-rod RP b/c cones affected more)
  3. Sector RP
  4. Retinitis punctata albescens
  5. Monocular RP (or markedly asymmetric)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

first line treatment of CME in RP?

A

oral carbonic anhydrase inhibitors (steroid and anti-VEGF less effective, is not an inflammatory problem)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

general prognosis of RP?

A

slowly progressive over decades, and total blindness is very rare

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

first gene mutation associated with RP?

A

rhodopsin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

treatment of RP?

A

low vision aids, vitamin A supplementation may be helpful, treat CME (diamox, maybe steroids)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

DDx undetectable ERG?

A

late RP, Leber congenital amaurosis, retinal aplasia, total RD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

DDx predominantly abnormal photopic response

A

cone degenerations, achromatopsia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

DDx negative ERG

A

X-linked retinoschisis, retinal vascular disease, CSNB, Enhanced S-Cone syndrome (Goldmann-Favre), MAR (antibodies against bipolar cells in inner nuclear layer)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

20/200 or worse vision since birth, wandering nystagmus, normal fundus appearance, ERG undetectable

A

Leber Congenital Amaurosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Delayed 30-Hz flicker, normal scotopic response, normal visual field, decreased visual acuity, decreased color vision, normal visual field. Diagnosis, and fundus appearance if becomes abnormal later in disease?

A

cone-dystrophy. bull’s eye maculopathy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

most common juvenile macular dystrophy? most common inheritance pattern? gene? and chromosome?

A

Stargardt’s. AR. ABCA4 (rod outer segments), chromosome 1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

discrete, yellow, round parafoveal flecks and foveal atrophy in child: diagnosis, typical FA and FAF appearance

A

Stargardt’s.
FA: dark choroid
FAF: radially outward expanding of hyperautofluorescent perifoveal flecks with peripapillary sparing and central macular hypoautofluorecence (bull’s eye maculopathy)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

DDx bull’s eye maculopathy

A

Stargardt’s, hydroxychloroquine toxicity, ARMD, chronic macular hole

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

treatment to avoid in Stargardt’s?

A

vitamin A (accelerates disease)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Abnormal EOG and normal ERG: diagnosis, inheritance, gene, chromosome, protein, fundus appearance

A

Best disease. AD. Best1 on chromosome 11, encodes for bestrophin. large, egg-like, yellow macular lesion that degenerates over time and leaves course granularity similar to ARMD in its wake

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

approximate vision in Best disease

A

20/30 (despite large macular gumba)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

alternative diagnostic approach if cannot obtain EOG on child with suspected Best disease?

A

EOG on parents to determine carrier state

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

1/3 disc-diameter yellow subfoveal lesion in adult with mild decreased vision and normal EOG

A

adult-onset foveomacular vitelliform dystrophy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

innumerable, homogenous, round drusen more apparent on angiography that can coalesce into a large, central macular yellow lesion

A

cuticular (or basal laminar) drusen, with vitelliform exudative macular detachment

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

numerous drusen radiating from fovea in honeycomb pattern

A

Mallatia leventinese or Doyne honeycomb dystrophy phenotypes of autosomal dominent drusen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

bilateral, subfoveal CNV that develops into geographic atrophy in a 40 year old: diagnosis, inheritance, gene

A

Sorsby Macular Dystrophy. AD. TIMP3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

scalloped areas of peripheral RPE and choriocapillaris atrophy that coalesce over time but with sparing of large choroidal vessels: diagnosis, inheritance, gene, protein, presenting symptoms.

A

choroideremia. XR. CHM, codes for geranylgeranyl transferase Rab escort protein. visual field loss and nyctalopia, visual acuity usually normal.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

lobular loss of RPE and choroid separated from hyperpigmented fundus by scallped edges: diagnosis, inheritance, gene, protein, pathogenesis, diagnosis, and treatmet

A

gyrate atrophy. AR. ornithine aminotransferase (OAT) on chromosome 10. leads to elevated ornithine which is toxic to RPE. elevated serum ornithine. dietary restriction of arginine and supplementation with B6 (pyridoxine)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Round or oval central macular sharply demarcated area of geographic atrophy in a 40 year old? In a child? Inheritance?

A

Adult: Central areolar choroidal dystrophy.
Child: North Carolina macular dystrophy (presents earlier) Both AD.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

level of retinal splitting in X-linked juvenile retinoschisis. pattern of involvement? initial presentation? prognosis?

A

NFL. preference for macula. often present with vitreous hemorrhage. vision may be good early but typically decreases to 20/200

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

night blindness, negative ERG, peripheral visual field loss, deep nummular pigmentary deposition at RPE: diagnosis, inheritance

A

enhanced S-cone syndrome (Goldmann-Favre). AR.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

well circumscribed serous detachments of the retina in 40 yo male. decreased vision is corrected by hyperopic correction. Diagnosis, risk factors?

A

central serous chorioretinopathy. type A personality, stress, hypertension, OSA, GERD, pregnancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

3 types of FA patterns for CSC. Most common?

A
  1. expansile dot (most common): early pinpoint staining with late leakage
  2. smokestack: pinpoint spot stains early and expands vertically, resembling a plume of smoke
  3. diffuse pattern of leakage
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

treatment of CSC

A

observe for 3-6 months, or anti-VEGF for CNV (2%). If not resolved by 3-6 months, consider laser photocoagulation at the site of leakage or PDT. Also, systemic drugs have been reported to have efficacy: spiranolactone, eplerenone, finasteride, ketoconazole, mifepristine, valproic acid (for effects on steroid metabolism)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

findings to differentiate CSC from polypoidal choroidal vasculopathy or ARMD?

A

lack of lipid or blood, classic FA patterns, risk factors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

Elschnig spots and Siegrist streaks

A

Both are signs of hypertensive choroidopathy. Elschnig spots are focal choroidal infarcts that appear as a black dot surrounded by a tan or yellow halo. Siegrist streaks are linear aggregations of these spots

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

common causes of hypertensive choroidoapthy. fundus appearance?

A

anything that causes acute, severe increases in BP: cocaine, eclampsia, malignant hypertension. serous detachments with associated areas of yellow placoid discoloration of the RPE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

FA appearance of a choroidal infarct

A

wedge-shaped area of decreased perfusion with tip pointing towards area of occlusion

43
Q

well circumscribed, orange fundus lesion with overlying serous detachment. ICG shows early hyperfluorescence of the lesion but a washed-out pattern in the late phase

A

choroidal hemangioma. PDT, laser photocoagulation, cryopexy, external-beam and plaque radiation

44
Q

FA shows leopard spot pattern of hypofluorescence without leakage

A

uveal effusion syndrome

45
Q

young otherwise healthy hyperope with serous retinal detachment and no holes/tears

A

uveal effusion syndrome

46
Q

multiple, bilateral reddish-brown choroidal lesions. FA shows hypofluorescence of these lesions, and a leopard spot pattern elsewhere. Diagnosis and significance? Other ocular findings?

A

BDUMP (bilateral diffuse uveal melanocytic proliferation). paraneoplastic syndrome that heralds systemic cancer, especially lung, ovarian, and uterine. PSC, iris and ciliary body cysts, RD.

47
Q

treatment of CMV retinitis? major complication of one of these drugs?

A

systemic or intravitreal ganciclovir and/or foscarnet. Ganciclovir causes granulocytopenia in 1/3 of patients

48
Q

findings in Bardet-Biedl Syndrome. What general type of syndrome is this considered?

A
  • pigmentary retinopathy and bull’s eye maculopathy with obesity, polydactyly, hypogonadism, cognitive disability
  • ciliopathy
49
Q

pigmented retinopathy with congenital sensorineural hearing loss: diagnosis, inheritance

A

Usher syndrome. AR.

50
Q

list of inherited retinal ciliopathies

A

“Beatles Jam And Usher Sings Joyously”

Bardet-Biedl, Jeune, Alstrom, Usher, Senior-Loken, Joubert

51
Q

DDx pigmentary retinopathy with hearing loss

A

“Usher’s Ears Are Always Hearing Crazy Rhythmic Raps”

Usher syndrome, dysplasia Epiphysaria congenita, Alstrom, Alport, Hurler and Cockayne syndromes; Refsum disease; congenital rubella

52
Q

jaundice, posterior embryotoxin, pigmentary retinopathy

A

Alagille syndrome

53
Q

chorioretinal coloboma, renal disease, and molar-tooth deformity of cerebellum

A

Joubert syndrome

54
Q

RP, obesity, short stature, cardiomyopathy, renal disease

A

Alstrom syndrome

55
Q

RP, cystic kidney disease, asphyxiating thoracic dystrophy

A

Jeune syndrome

56
Q

multiple bilateral, small, ovoid, CHRPE-like lesions: diagnosis, inheritance, gene, systemic associations

A

Familial adenomatous polyposis (Gardner syndrome). AD. APC gene. high chance of malignant colon polyps

57
Q

RP, macular coloboma, defective enamel production

A

Jalili syndrome

58
Q

inheritance of oculocutaneous v ocular albinism

A

oculocutaneous: AR
ocular: XR

59
Q

photophobia, iris TIDs, hypopigmented fundi. 2 causes and their differences

A
  • albinism: nystagmus and congenitally poor vision 2/2 hypoplastic fovea
  • albinoidism: no or only mild visual impairment
60
Q

Oculocutaneous albinism with:

  1. frequent infections and bleeding problems?
  2. bleeding problems and Puerto Rican ancestry? leading cause of death for these patients?
A
  1. Chediak-Higashi (profound neutropenia; also thrombocytopenia)
  2. Hemansy-Pudlak syndrome (platelet defect). Leading cause of death is pulmonary fibrosis
61
Q

progressive dementia, seizures, and loss of vision in a 7 year-old. electron microscopy of blood smear shows fingerprint-like inclusions. diagnosis, inheritance, and retinal findings

A

neuronal ceroid lipofuscinoses (juvenile form = Batten disease). AR. optic nerve atrophy, retinal vascular attenuation, pigmentary loss, bull’s eye maculopathy

62
Q

spinocerebellar degeneration, RBC acanthosis, greasy stools, nyctalopia: diagnosis, inheritance, pathophys, and treatment

A

Abetalipoproteinemia. (Bassen-Kornzweig). AR. Abetalipoprotein B is not synthesized leading to fat and fat-soluble vitamin malabsorption. supplement vitamin A, D, E, and K

63
Q

common causes of vitamin A deficiency

A

Crohn’s and gastric bypass surgery

64
Q

nyctalopia, polyneuropathy, cerebellar ataxia, hearing loss, cardiomyopathy: diagnosis, inheritance, pathophys, treatment.

A

Refsum disease. AR (mostly). Peroxisomal disorder leading to elevated phytanic acid. Tx is avoidance of phytanic acid precursors.

65
Q

Which glycosaminoglycan is stored in excess in the mucopolysaccharidoses that are associated with retinal dystrophy?

A

heparan sulfate

66
Q

Mucopolysaccaridosis with

  1. clear cornea
  2. X-linked inheritance
  3. mild somatic stigmata but severe pigmentary retinopathy
A
  1. Hunter’s syndrome
  2. Hunter’s syndrome (others are AR)
  3. Sanfilippo syndrome
67
Q

Most common ganglioside storage disease? What enzyme is affected? What accumulates? Symptoms? Classic retinal findings?

A

Tay-Sachs. Hexosaminidase A. Ganglioside GM2. Cognitive disability and blindness with death by 2-5 years. Cherry red spot (from accumulation of gray-white glycolipid surrounding but not including fovea)

68
Q

Corneal verticillata, tortuous conjunctival and retinal vessels, lens changes, multiple systemic problems: diagnosis, inheritance, genotype, and phenotype.

A

Fabry’s disease. XR. defective alpha-galactosidase A leading to systemic ceramide accumulation in blood vessel walls

69
Q

Antibodies associated with cancer associated retinaopathy

A

antirecoverin, antienolase

70
Q

rapidly progressive loss of peripheral and central vision in patient with cancer? With melanoma? ERG differences and photoreceptor specifcity between the two?

A
  • cancer-associated retinopathy (CAR). melanoma-associated retinopathy (MAR). ERG severely reduced in CAR while negative waveform associated with MAR.
  • MAR affects rods, CAR affects cones (and some rods)
71
Q

findings in csytinosis? treatment?

A

cystine accumulation in conjunctiva and cornea. In nephropathic subtype, growth retardation and renal disease occur along with pigmentary retinopathy. Treatment with cysteamine

72
Q

pigmentary retinopathy and cardiac conduction abnormalities with cardiomyopathy: diagnosis? what might you see on skeletal muscle biopsy?

A

Kearns-Sayre syndrome. ragged red fibers

73
Q

bilateral ptosis, exotropia, pigmentary retinopathy? inheritance?

A

chronic progressive external ophthalmoplegia. mitochondiral inheritence (maternal)

74
Q

muscle wasting, Christmas tree cataract, retinal degeneration? inheritance?

A

myotonic dystrophy (Steinert disease). AD

75
Q

progressive myopia with myopic retinal changes, optically empty vitreous, joint hypermobility and arthritis, midface hypolasia and bifid uvula? inheritance?

A

Stickler syndrome (arthro-ophthalmopathy). AD

76
Q

white forelock, heterochromia, deafness, hypertelorism, broad nasal bridge, and RPE changes? inheritance?

A

Waardenburg syndrome. AD

77
Q

narrowed and sheathed retinal vessels, with associated pigmented spots, liquefaction and membranous condensation of vitreous body, optic atrophy? inheritance?

A

Wagner hereditary vitreoretinal degeneration. AD

78
Q

Marfanoid body habitus, pigmentary retinopathy, lens subluxation, hypercoagulability? inheritance?

A

homocysteinemia. AR

79
Q

pigmentary retinopathy, seizures, hypotonia, early death? inheritance? class of disease?

A

neonatal adrenoleukodystrophy. AR. peroxisome disorder

80
Q

Corneal clouding, pigmentary retinopathy, and course facies with:

  1. cognitive disability and deafness
  2. aortic regurg, normal intellect
A
  1. Hurler syndrome (MPS Type I H)

2. Scheie syndrome (MPS Type I S)

81
Q

streaky skin lesions, alopecia, abnormal teeth, pigmentary retinopathy, nystagmus, strabismus? inheritance?

A

incognentia pigmenti (Bloch-Sulzberger syndrome). XD. affects only females because is lethal to males

82
Q

T or F regarding hydroxychloroquine toxicity:

  1. vision loss can continue even after discontinuation of the drug
  2. paracentral loss of ellipsoid line is earliest OCT change
  3. bilateral bull’s-eye maculopathy is a classic finding
  4. End stages can show panretinal degeneration resembling RP
  5. Can cause corneal verticillata
A

All True

83
Q

Low risk for toxicity at daily chloroquine dose of less than ___ and hydroxychloroquine dose of less than ____

Cumulative amount of chloroquine and hydroxychloroquine past which places patients at high risk for toxicity

A
  1. 5 mg/kg/day hydroxychloroquine
  2. 0 mg/kg/day chloroquine

1000 g hydroxychloroquine
460 g chloroquine

84
Q

Risk factors for chloroquine and hydroxychloroquine toxicity

A

age > 60, obesity, short stature, kidney or liver disease, concomitant retinal disease

85
Q

Recommended screening tests for plaquenil toxicity?

A

Per AAO recommendations:

  • Initial visit upon starting medication: visual field with one objective test, either OCT, FAF, or mfERG. Tests are obtained for later comparison
  • Yearly routine visits without ancillary testing unless exam indicates in first five years
  • After five years, repeat tests from initial visit yearly
86
Q

schizophrenic patient taking “some medication” for years complains of gradual blurring of vision, and RPE appears diffusely mottled

A

thioridazine toxicity

87
Q 
Mutated gene in:
Stargardt's
Pattern Dystrophies
Best Disease
Sorsby's Macular Dystrophy
A

Stargardt’s - ABCA4
Pattern Dystrophies - RDS/Peripherin
Best Disease - VMD2 or BEST1
Sorsby’s Macular Dystrophy - TIMP3

88
Q

Niemann-Pick: absent enzyme and classic fundus finding?

A

sphingomyelinase. macular halo. may also have cherry red spot

89
Q

HIV patient well controlled on medications presents with progressive peripheral vision loss. FAF reveals bilateral and symmetric peripheral mottling

A

NRTI toxicity

90
Q

Which drug is associated with serous macular detachment, CSCR, and blue-tinting of vision?

A

sildenafil

91
Q

25 yo male presents with 10-day h/o central white spot. Admits to taking a recreational drug prior to intercourse 2 weeks ago. Offending drug and OCT appearance?

A

Alkly nitrites (“poppers”) toxicity. Ellipsoid line and outer segment disruption

92
Q

Patient with metastatic cancer with multifocal serous detachments, one of which involves the macula

A

MEK-inhibitor toxicity

93
Q

Finding in clofazimine toxicity?

Deferoxamine toxicity?

A

bull’s eye maculopathy

vitelliform RPE changes and macular edema

94
Q

important side effect of intraocular aminoglycosides

A

macular infarction and severe macular ischemia

95
Q

ocular side effect of interferon alpha-2a

A

retinal occlusion leading to cotton wool spots and hemorrhages

96
Q

Name 2 drugs that can cause ganglion cell and optic nerve toxicity

A

quinine and mehtanol

97
Q

drugs that can cause CME without leakage on FA?

A

nicotinic acid and the taxanes (paclitaxel, docetaxel)

98
Q

ocular side effect of glitazone hypoglycemics?

A

fluid retention leading to macular edema

99
Q

ocular side effects of tamoxifen

A

parafoveal, inner retinal, brilliant crystalline deposits +/- CME

100
Q

IVDA with perifoveal crystalls

A

talc-emboli. generally not visually significant

101
Q

drug associated with reversible yellow-tinting of vision

A

digitalis

102
Q

ocualr side effects of rifabutin

A

anterior and posterior uveitis with hypopyon and hypotony

103
Q

drugs that can cause medication-induced myopia

A

topiramate, aetazolamide

Retina and Vitreous (6 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions