Hereditary Flashcards
(108 cards)
1
Q
Fundus Flavimaculatus
A
“Flecked” retina syndrome
2
Q
Inheritance pattern of Fundus Flavimaculatus
A
AR
3
Q
Fundus Flavimaculatus is (Uni/Bi)-Lateral
A
Bilateral (and symmetric)
4
Q
When is FF usually diagnosed?
A
20-30
5
Q
FF predominantly affects what area of retina?
A
Midperiphery/posterior pole
6
Q
Shapes of flecks in FF
A
- Round
- Oval
- Linear
- Semilunar
- Pisciform
7
Q
T/F: Fundus Flavimaculatus is an atrophic process
A
FALSE
8
Q
Some say FF is a variant of
A
Stargardt
9
Q
Treatment for FF
A
None, generally good prognosis
(unless CNV —> AntiVEGF, laser, or PDT)
10
Q
Fundus Flavi results for:
1. ERG
2. EOG
3. FA
A
Slightly abnormal ERG
Abnormal EOG
FA: dark/silent choroid, early hypo due to blockage, then late hyper due to staining
11
Q
A
Stargardt
12
Q
“Beaten Bronze” appearance is associated with
A
Stargardt
13
Q
Which form of Stargardt is more destructive and occurs earlier in life: AR or AD?
A
AR
14
Q
Stargardt:
Unilateral or Bilateral?
A
Bilateral (and symmetric)
15
Q
Most common juvenile macular dystrophy
A
Stargardt
16
Q
Visible macular changes in Stargardt begin at age
A
6-20
17
Q
Stargardt also known as
A
Juvenile Macular Degeneration
18
Q
Symptoms of Stargardt
A
R/G color deficit and central scotoma
19
Q
What do you have to r/o in late stage Stargardt?
A
Drug Toxicity (due to Bulls Eye)
20
Q
Early Stage of Stargardt
A
Loss of FLR
21
Q
Later stage of Stargardt
A
Oval atrophy with bulls eye configuration “beaten bronze”
22
Q
Stargardt:
- EOG
- ERG
- FA
A
EOG and ERG normal (until central/peripheral retina affected)
FA: dark/quiet choroid and hyper in later stages
23
Q
Typical VA for Stargardt
A
20/70-20/100 in at least one eye
24
Q
Prognosis for Stargardt
A
Poor
Can suggest Omega3s and sun protection
But honestly… /:
25
Best Disease is also known as
Vitelliform Macular Dystrophy or Juvenile Best Macular Dystrophy
26
Definition of “Dystrophy”
Condition someone is born with
27
Definition of “Dystrophy”
Condition someone is born with
28
Retinal Dystrophy
Condition associated with reduced or deteriorating vision in both eyes
29
“Syndromic” Retinal Dystrophy
Dystrophy is a part of a pattern of problems involving other parts of the body
30
Degeneration
Deterioration of a tissue/organ in which vitality is diminished and structure impaired
31
T/F: Retinal Degenerations are typically bilateral and genetic
FALSE:
They can be unilateral *or* bilateral and *may or may not be* genetic
32
2 general types of degeneration
1. Specialized cells replaced with unspecialized cells
2. Cells functionally impaired
33
Inheritance pattern for Best
AD
34
Age of onset for Best
3-15, average 6
35
What imaging findings are pathognomonic for Best?
Abnormal EOG but normal ERG
36
What can be indicative of Best Disease prior to any fundus changes?
Abnormal EOG
37
Best Disease
Accumulation of lipofuscin in RPE, subretinal macrophages, and choroid
38
Describe “Egg Yolk” Lesion
Yellow Mound
Dark Border
Centered at Fovea
39
Describe “Scrambled Egg” appearance
Degeneration of “egg yolk” —> RPE atrophy —> CNV —> leaking, rupture, hemorrhage, macular scarring
40
Stage 1 of Best
**Pre-Vitelliform**
Abnormal EOG
Normal fundus
Asymptomatic
41
Stage 2 of Best
**Vitelliform**
Egg-Yolk
(Usually age 3-15)
42
Stage 3 of Best
**Pseudohypopyon**
Lesion can be absorbed
Little to no effect to vision
43
Stage 4 of Best
**Vitelliruptive**
Scrambled Egg
More vision loss
44
Stage 5 of Best
**End Stage**
CNV, heme, atrophy, and/or scarring
Moderate to severe vision loss
45
Early Best Disease: 75% of pts under 40 have a VA better than _____ in at least one eye
20/40
46
T/F: typically in Best, VAs differ by at least 2 lines
TRUE (64% of the time)
47
Symptoms of Late Best Disease
Color Vision Defect
VA decrease
Central scotoma
48
T/F: there is no treatment for Best disease
TRUE
49
FA of Best
Hyper in areas of RPE atrophy but hypo where accumulation of lipofuscin
50
X-Linked Juvenile Retinoschisis also known as
Congenital Retinoschisis
51
‘X-linked’ primarily affects
Males
52
X-Linked Juvenile Retinoschisis
Bilateral Maculopathy with peripheral schisis
53
What causes X-Linked Juvenile Retinoschisis?
Defect in mullers —> split in NFL
54
T/F: X-Linked Juvenile Retinoschisis includes macular involvement
TRUE
55
Most useful diagnostic/monitoring tool for X-Linked Juvenile Retinoschisis
OCT
56
Appearance of macula in X-Linked Juvenile Retinoschisis
Tiny cystoid spaces with radial/bicycle wheel striae
57
Macula in X-Linked Juvenile Retinoschisis is best examined with
Red-Free Filter
58
T/F: X-Linked Juvenile Retinoschisis typically reaches Ora
FALSE
59
X-Linked Juvenile Retinoschisis
60
T/F: Night vision is impaired in X-Linked Juvenile Retinoschisis
FALSE
61
Peripheral retinoschisis typically in what quadrant?
IT
62
Prognosis for X-Linked Juvenile Retinoschisis
Progresses slow with periods of regression, but still: poor prognosis
63
Vitreal veils are common in ____
Retinoschisis
64
North Caroline Macular Dystrophy: Grade 1
Yellow/white, drusen like deposits
May remain asymptomatic
Develops in 1st decade
65
North Carolina MD: Grade 2
Deep confluent macular deposits
Possible CNV and subretinal scarring —> dec VA and scotoma
66
North Carolina MD: Grade 3
coloboma-like *atrophic* macular lesion
67
What geographical region is Gyrate most prevalent?
Finland
68
Inheritance pattern of Gyrate
AR
69
Clinical signs of Gyrate Atrophy
1. Cataract (PSC)
2. High Myopia
3. Elevated Ornithine
4. Field Constriction
5. Peripapillary Gyrate Lesion
6. Attenuation of Vessels
7. Midperipheral confluent atrophy of Choroidal/RPE
70
Prognosis for Gyrate
Poor; legal blindness by 4th-6th decade
71
Abnormal testing for Gyrate
EOG, ERG, Dark Adaptation
72
Choroideremia
Progressive degen of choroid, RPE, and PRs
73
Inheritance pattern of choroideremia
X-linked recessive —> mainly affects males
74
Manifestation of Choroideremia for Carrier Females
Scattered pigment mottling
75
Choroideremia: Early Childhood
RPE mottling + mid-peripheral atrophy
76
Choroideremia: 2nd Decade
Mid periphery choroidal thinning/atrophy
White sclera shows
77
Choroideremia: Middle Age
360 Atrophy
Ring Scotoma on VF testing
78
Choroideremia: Later stages
Retina contacts sclera
Macula affected
ON atrophy
Retinal artery attenuation
79
By what age do you get central vision loss with Choroideremia?
50-60s
80
Hallmark feature of CACD
Well defined zone of RPE/Choriocapillaris atrophy
81
Central areolar Choroidal Dystrophy
Hereditary disorder affecting macular, resulting in progressive and profound vision loss
82
Most prominent discriminating characteristic of Central Areolar Choroidal Dystrophy
FA:
- speckled pattern
- sharply demarcated oval shaped central macula
83
Most common inheritance pattern of CACD
AD
84
mutations in peripherin-2 (PRPH2) gene
CACD
85
Dominant Drusen aka
Familial Dominant Drusen or Hereditary Dominant Drusen
86
Mutation (R345W) in FBLN3 gene (EFEMP1) on Chromosome 2p16
Dominant Drusen
87
T/F: Dominant Drusen associated with CNVM
FALSE
88
RP
89
RP is characterized by: (3)
1. Nyctalopia
2. VF loss (esp peripheral)
3. Abnormal ERG
90
RP is a dysfunction of
RODS
91
T/F: RP can have cone involvement
TRUE, in late stages
92
RP Fundus Triad
1. Bone spiculing
2. Vascular attenuation
3. Waxy pallor atrophy
93
Treatment for Leber’s Congenital Amaurosis
LUXTURNA — gene therapy
94
RP Sine Pigmento
All clinical features of RP (-) bone spiculing
95
Retinitis Punctata Albiscens
All clinical features of RP
(-) bone spiculing
(+) white dots
96
Ushers Syndrome
RP + hearing loss
97
Refsum’s Disease
Error of lipid metabolism —> RP, peripheral neuropathy, cerebellar ataxia, and elevated CSF protein
98
Preferred ERG type for RP
mfERG gives more info
99
Testing for RP
ERG
OCT Macula
Genetic Testing
100
ERG findings for RP
Reduced implicit time and b-wave amplitude
30Hz Flicker affected in late stages
101
What type of VF should be considered in a pt with RP?
Kinetic (for functional field testing)
102
If Rxing Vitamin A for a RP pt, considerations?
- Check liver function
- Avoid high dose Vit E
- May improve ERG but unknown if translates into real life
103
Source of DHA for RP
Sardines, salmon, supplements
104
Experimental RP treatment
1. ADX 2191 — IV methotrexate
2. Disulfiram — inhibits retinoic acid
3. Genetic therapy
4. Cell transplant
5. Neurotrophic factors
6. Retinal Prosthesis
105
Pts with cone dystrophy feel more comfortable in (bright/dim) settings
Dim
106
Primary presentation of Cone Dystrophy
Photophobia
107
How is cone dystrophy diff from RP
Cones first
108
Cone Dystrophy — age of onset
Early childhood (4-8) or young adulthood (teens-adulthood)
