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
2
Q
severely reduced cone-flicker ERG with preserved S-cone ERG responsen and normal rod ERGs. Inheritance?
A
S-cone monochromatism. XR
3
Q
congenital stationary night blindness:
- most common inheritance pattern
- most common presenting symptom
- ERG findings
A
- XR
- nyctalopia
- negative ERG (a wave normal, b wave abnormal; inner retina worse than photoreceptors)
4
Q
congenital nyctalopia with numerous small white dots in retina that spare fovea:
- diagnosis
- mutation and protein
- prognosis
A
- fundus albipunctatus
- RDH5 and retinol dehydrogenase
- present at birth but not progressive
5
Q
Japanese patient with congenital nyctalopia and yellow, iridescent retinal sheen after light exposure
A
Oguchi disease
6
Q
characteristic VF of RP
A
ring scotoma
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
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
9
Q
OCT in RP
A
loss of ellipsoid line, generalized thinning. +/- CME
10
Q
RP variants:
- RP without bone spicules
- RP more prominent in macula
- RP only in a certain section of the retina
- RP with multiple white spots instead of bone spicules
- RP only in one eye
A
- RP sine pigmento
- Inverse RP (or cone-rod RP b/c cones affected more)
- Sector RP
- Retinitis punctata albescens
- Monocular RP (or markedly asymmetric)
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)
12
Q
general prognosis of RP?
A
slowly progressive over decades, and total blindness is very rare
13
Q
first gene mutation associated with RP?
A
rhodopsin
14
Q
treatment of RP?
A
low vision aids, vitamin A supplementation may be helpful, treat CME (diamox, maybe steroids)
15
Q
DDx undetectable ERG?
A
late RP, Leber congenital amaurosis, retinal aplasia, total RD
16
Q
DDx predominantly abnormal photopic response
A
cone degenerations, achromatopsia
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)
18
Q
20/200 or worse vision since birth, wandering nystagmus, normal fundus appearance, ERG undetectable
A
Leber Congenital Amaurosis
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
20
Q
most common juvenile macular dystrophy? most common inheritance pattern? gene? and chromosome?
A
Stargardt’s. AR. ABCA4 (rod outer segments), chromosome 1
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)
22
Q
DDx bull’s eye maculopathy
A
Stargardt’s, hydroxychloroquine toxicity, ARMD, chronic macular hole
23
Q
treatment to avoid in Stargardt’s?
A
vitamin A (accelerates disease)
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
25
approximate vision in Best disease
20/30 (despite large macular gumba)
26
alternative diagnostic approach if cannot obtain EOG on child with suspected Best disease?
EOG on parents to determine carrier state
27
1/3 disc-diameter yellow subfoveal lesion in adult with mild decreased vision and normal EOG
adult-onset foveomacular vitelliform dystrophy
28
innumerable, homogenous, round drusen more apparent on angiography that can coalesce into a large, central macular yellow lesion
cuticular (or basal laminar) drusen, with vitelliform exudative macular detachment
29
numerous drusen radiating from fovea in honeycomb pattern
Mallatia leventinese or Doyne honeycomb dystrophy phenotypes of autosomal dominent drusen
30
bilateral, subfoveal CNV that develops into geographic atrophy in a 40 year old: diagnosis, inheritance, gene
Sorsby Macular Dystrophy. AD. TIMP3
31
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.
choroideremia. XR. CHM, codes for geranylgeranyl transferase Rab escort protein. visual field loss and nyctalopia, visual acuity usually normal.
32
lobular loss of RPE and choroid separated from hyperpigmented fundus by scallped edges: diagnosis, inheritance, gene, protein, pathogenesis, diagnosis, and treatmet
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)
33
Round or oval central macular sharply demarcated area of geographic atrophy in a 40 year old? In a child? Inheritance?
Adult: Central areolar choroidal dystrophy.
Child: North Carolina macular dystrophy (presents earlier) Both AD.
34
level of retinal splitting in X-linked juvenile retinoschisis. pattern of involvement? initial presentation? prognosis?
NFL. preference for macula. often present with vitreous hemorrhage. vision may be good early but typically decreases to 20/200
35
night blindness, negative ERG, peripheral visual field loss, deep nummular pigmentary deposition at RPE: diagnosis, inheritance
enhanced S-cone syndrome (Goldmann-Favre). AR.
36
well circumscribed serous detachments of the retina in 40 yo male. decreased vision is corrected by hyperopic correction. Diagnosis, risk factors?
central serous chorioretinopathy. type A personality, stress, hypertension, OSA, GERD, pregnancy
37
3 types of FA patterns for CSC. Most common?
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
38
treatment of CSC
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)
39
findings to differentiate CSC from polypoidal choroidal vasculopathy or ARMD?
lack of lipid or blood, classic FA patterns, risk factors
40
Elschnig spots and Siegrist streaks
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
41
common causes of hypertensive choroidoapthy. fundus appearance?
anything that causes acute, severe increases in BP: cocaine, eclampsia, malignant hypertension. serous detachments with associated areas of yellow placoid discoloration of the RPE
42
FA appearance of a choroidal infarct
wedge-shaped area of decreased perfusion with tip pointing towards area of occlusion
43
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
choroidal hemangioma. PDT, laser photocoagulation, cryopexy, external-beam and plaque radiation
44
FA shows leopard spot pattern of hypofluorescence without leakage
uveal effusion syndrome
45
young otherwise healthy hyperope with serous retinal detachment and no holes/tears
uveal effusion syndrome
46
multiple, bilateral reddish-brown choroidal lesions. FA shows hypofluorescence of these lesions, and a leopard spot pattern elsewhere. Diagnosis and significance? Other ocular findings?
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
treatment of CMV retinitis? major complication of one of these drugs?
systemic or intravitreal ganciclovir and/or foscarnet. Ganciclovir causes granulocytopenia in 1/3 of patients
48
findings in Bardet-Biedl Syndrome. What general type of syndrome is this considered?
- pigmentary retinopathy and bull's eye maculopathy with obesity, polydactyly, hypogonadism, cognitive disability
- ciliopathy
49
pigmented retinopathy with congenital sensorineural hearing loss: diagnosis, inheritance
Usher syndrome. AR.
50
list of inherited retinal ciliopathies
"Beatles Jam And Usher Sings Joyously"
Bardet-Biedl, Jeune, Alstrom, Usher, Senior-Loken, Joubert
51
DDx pigmentary retinopathy with hearing loss
"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
jaundice, posterior embryotoxin, pigmentary retinopathy
Alagille syndrome
53
chorioretinal coloboma, renal disease, and molar-tooth deformity of cerebellum
Joubert syndrome
54
RP, obesity, short stature, cardiomyopathy, renal disease
Alstrom syndrome
55
RP, cystic kidney disease, asphyxiating thoracic dystrophy
Jeune syndrome
56
multiple bilateral, small, ovoid, CHRPE-like lesions: diagnosis, inheritance, gene, systemic associations
Familial adenomatous polyposis (Gardner syndrome). AD. APC gene. high chance of malignant colon polyps
57
RP, macular coloboma, defective enamel production
Jalili syndrome
58
inheritance of oculocutaneous v ocular albinism
oculocutaneous: AR
ocular: XR
59
photophobia, iris TIDs, hypopigmented fundi. 2 causes and their differences
- albinism: nystagmus and congenitally poor vision 2/2 hypoplastic fovea
- albinoidism: no or only mild visual impairment
60
Oculocutaneous albinism with:
1. frequent infections and bleeding problems?
2. bleeding problems and Puerto Rican ancestry? leading cause of death for these patients?
1. Chediak-Higashi (profound neutropenia; also thrombocytopenia)
2. Hemansy-Pudlak syndrome (platelet defect). Leading cause of death is pulmonary fibrosis
61
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
neuronal ceroid lipofuscinoses (juvenile form = Batten disease). AR. optic nerve atrophy, retinal vascular attenuation, pigmentary loss, bull's eye maculopathy
62
spinocerebellar degeneration, RBC acanthosis, greasy stools, nyctalopia: diagnosis, inheritance, pathophys, and treatment
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
common causes of vitamin A deficiency
Crohn's and gastric bypass surgery
64
nyctalopia, polyneuropathy, cerebellar ataxia, hearing loss, cardiomyopathy: diagnosis, inheritance, pathophys, treatment.
Refsum disease. AR (mostly). Peroxisomal disorder leading to elevated phytanic acid. Tx is avoidance of phytanic acid precursors.
65
Which glycosaminoglycan is stored in excess in the mucopolysaccharidoses that are associated with retinal dystrophy?
heparan sulfate
66
Mucopolysaccaridosis with
1. clear cornea
2. X-linked inheritance
3. mild somatic stigmata but severe pigmentary retinopathy
1. Hunter's syndrome
2. Hunter's syndrome (others are AR)
3. Sanfilippo syndrome
67
Most common ganglioside storage disease? What enzyme is affected? What accumulates? Symptoms? Classic retinal findings?
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
Corneal verticillata, tortuous conjunctival and retinal vessels, lens changes, multiple systemic problems: diagnosis, inheritance, genotype, and phenotype.
Fabry's disease. XR. defective alpha-galactosidase A leading to systemic ceramide accumulation in blood vessel walls
69
Antibodies associated with cancer associated retinaopathy
antirecoverin, antienolase
70
rapidly progressive loss of peripheral and central vision in patient with cancer? With melanoma? ERG differences and photoreceptor specifcity between the two?
- 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
findings in csytinosis? treatment?
cystine accumulation in conjunctiva and cornea. In nephropathic subtype, growth retardation and renal disease occur along with pigmentary retinopathy. Treatment with cysteamine
72
pigmentary retinopathy and cardiac conduction abnormalities with cardiomyopathy: diagnosis? what might you see on skeletal muscle biopsy?
Kearns-Sayre syndrome. ragged red fibers
73
bilateral ptosis, exotropia, pigmentary retinopathy? inheritance?
chronic progressive external ophthalmoplegia. mitochondiral inheritence (maternal)
74
muscle wasting, Christmas tree cataract, retinal degeneration? inheritance?
myotonic dystrophy (Steinert disease). AD
75
progressive myopia with myopic retinal changes, optically empty vitreous, joint hypermobility and arthritis, midface hypolasia and bifid uvula? inheritance?
Stickler syndrome (arthro-ophthalmopathy). AD
76
white forelock, heterochromia, deafness, hypertelorism, broad nasal bridge, and RPE changes? inheritance?
Waardenburg syndrome. AD
77
narrowed and sheathed retinal vessels, with associated pigmented spots, liquefaction and membranous condensation of vitreous body, optic atrophy? inheritance?
Wagner hereditary vitreoretinal degeneration. AD
78
Marfanoid body habitus, pigmentary retinopathy, lens subluxation, hypercoagulability? inheritance?
homocysteinemia. AR
79
pigmentary retinopathy, seizures, hypotonia, early death? inheritance? class of disease?
neonatal adrenoleukodystrophy. AR. peroxisome disorder
80
Corneal clouding, pigmentary retinopathy, and course facies with:
1. cognitive disability and deafness
2. aortic regurg, normal intellect
1. Hurler syndrome (MPS Type I H)
| 2. Scheie syndrome (MPS Type I S)
81
streaky skin lesions, alopecia, abnormal teeth, pigmentary retinopathy, nystagmus, strabismus? inheritance?
incognentia pigmenti (Bloch-Sulzberger syndrome). XD. affects only females because is lethal to males
82
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
All True
83
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
6. 5 mg/kg/day hydroxychloroquine
3. 0 mg/kg/day chloroquine
1000 g hydroxychloroquine
460 g chloroquine
84
Risk factors for chloroquine and hydroxychloroquine toxicity
age > 60, obesity, short stature, kidney or liver disease, concomitant retinal disease
85
Recommended screening tests for plaquenil toxicity?
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
schizophrenic patient taking "some medication" for years complains of gradual blurring of vision, and RPE appears diffusely mottled
thioridazine toxicity
87
```
Mutated gene in:
Stargardt's
Pattern Dystrophies
Best Disease
Sorsby's Macular Dystrophy
```
Stargardt's - ABCA4
Pattern Dystrophies - RDS/Peripherin
Best Disease - VMD2 or BEST1
Sorsby's Macular Dystrophy - TIMP3
88
Niemann-Pick: absent enzyme and classic fundus finding?
sphingomyelinase. macular halo. may also have cherry red spot
89
HIV patient well controlled on medications presents with progressive peripheral vision loss. FAF reveals bilateral and symmetric peripheral mottling
NRTI toxicity
90
Which drug is associated with serous macular detachment, CSCR, and blue-tinting of vision?
sildenafil
91
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?
Alkly nitrites ("poppers") toxicity. Ellipsoid line and outer segment disruption
92
Patient with metastatic cancer with multifocal serous detachments, one of which involves the macula
MEK-inhibitor toxicity
93
Finding in clofazimine toxicity?
| Deferoxamine toxicity?
bull's eye maculopathy
| vitelliform RPE changes and macular edema
94
important side effect of intraocular aminoglycosides
macular infarction and severe macular ischemia
95
ocular side effect of interferon alpha-2a
retinal occlusion leading to cotton wool spots and hemorrhages
96
Name 2 drugs that can cause ganglion cell and optic nerve toxicity
quinine and mehtanol
97
drugs that can cause CME without leakage on FA?
nicotinic acid and the taxanes (paclitaxel, docetaxel)
98
ocular side effect of glitazone hypoglycemics?
fluid retention leading to macular edema
99
ocular side effects of tamoxifen
parafoveal, inner retinal, brilliant crystalline deposits +/- CME
100
IVDA with perifoveal crystalls
talc-emboli. generally not visually significant
101
drug associated with reversible yellow-tinting of vision
digitalis
102
ocualr side effects of rifabutin
anterior and posterior uveitis with hypopyon and hypotony
103
drugs that can cause medication-induced myopia
topiramate, aetazolamide
