Brainscape's Knowledge GenomeTM

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


See full index

X. Post Seg 2 > Hereditary > Flashcards

Hereditary Flashcards

1
Q

Fundus Flavimaculatus

A

“Flecked” retina syndrome

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

Inheritance pattern of Fundus Flavimaculatus

A

AR

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

Fundus Flavimaculatus is (Uni/Bi)-Lateral

A

Bilateral (and symmetric)

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

When is FF usually diagnosed?

A

20-30

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

FF predominantly affects what area of retina?

A

Midperiphery/posterior pole

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

Shapes of flecks in FF

A
  • Round
  • Oval
  • Linear
  • Semilunar
  • Pisciform
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

T/F: Fundus Flavimaculatus is an atrophic process

A

FALSE

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

Some say FF is a variant of

A

Stargardt

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Treatment for FF

A

None, generally good prognosis
(unless CNV —> AntiVEGF, laser, or PDT)

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q
A

Stargardt

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

“Beaten Bronze” appearance is associated with

A

Stargardt

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

Which form of Stargardt is more destructive and occurs earlier in life: AR or AD?

A

AR

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

Stargardt:
Unilateral or Bilateral?

A

Bilateral (and symmetric)

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

Most common juvenile macular dystrophy

A

Stargardt

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

Visible macular changes in Stargardt begin at age

A

6-20

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

Stargardt also known as

A

Juvenile Macular Degeneration

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

Symptoms of Stargardt

A

R/G color deficit and central scotoma

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

What do you have to r/o in late stage Stargardt?

A

Drug Toxicity (due to Bulls Eye)

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

Early Stage of Stargardt

A

Loss of FLR

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

Later stage of Stargardt

A

Oval atrophy with bulls eye configuration “beaten bronze”

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

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

Typical VA for Stargardt

A

20/70-20/100 in at least one eye

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

Prognosis for Stargardt

A

Poor
Can suggest Omega3s and sun protection
But honestly… /:

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

Best Disease is also known as

A

Vitelliform Macular Dystrophy or Juvenile Best Macular Dystrophy

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

Definition of “Dystrophy”

A

Condition someone is born with

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

Definition of “Dystrophy”

A

Condition someone is born with

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

Retinal Dystrophy

A

Condition associated with reduced or deteriorating vision in both eyes

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

“Syndromic” Retinal Dystrophy

A

Dystrophy is a part of a pattern of problems involving other parts of the body

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

Degeneration

A

Deterioration of a tissue/organ in which vitality is diminished and structure impaired

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

T/F: Retinal Degenerations are typically bilateral and genetic

A

FALSE:
They can be unilateral or bilateral and may or may not be genetic

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

2 general types of degeneration

A
  1. Specialized cells replaced with unspecialized cells
  2. Cells functionally impaired
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

Inheritance pattern for Best

A

AD

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

Age of onset for Best

A

3-15, average 6

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

What imaging findings are pathognomonic for Best?

A

Abnormal EOG but normal ERG

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

What can be indicative of Best Disease prior to any fundus changes?

A

Abnormal EOG

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

Best Disease

A

Accumulation of lipofuscin in RPE, subretinal macrophages, and choroid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Describe “Egg Yolk” Lesion

A

Yellow Mound
Dark Border
Centered at Fovea

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

Describe “Scrambled Egg” appearance

A

Degeneration of “egg yolk” —> RPE atrophy —> CNV —> leaking, rupture, hemorrhage, macular scarring

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

Stage 1 of Best

A

Pre-Vitelliform
Abnormal EOG
Normal fundus
Asymptomatic

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

Stage 2 of Best

A

Vitelliform
Egg-Yolk
(Usually age 3-15)

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

Stage 3 of Best

A

Pseudohypopyon
Lesion can be absorbed
Little to no effect to vision

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

Stage 4 of Best

A

Vitelliruptive
Scrambled Egg
More vision loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

Stage 5 of Best

A

End Stage
CNV, heme, atrophy, and/or scarring
Moderate to severe vision loss

45
Q

Early Best Disease: 75% of pts under 40 have a VA better than _____ in at least one eye

A

20/40

46
Q

T/F: typically in Best, VAs differ by at least 2 lines

A

TRUE (64% of the time)

47
Q

Symptoms of Late Best Disease

A

Color Vision Defect
VA decrease
Central scotoma

48
Q

T/F: there is no treatment for Best disease

A

TRUE

49
Q

FA of Best

A

Hyper in areas of RPE atrophy but hypo where accumulation of lipofuscin

50
Q

X-Linked Juvenile Retinoschisis also known as

A

Congenital Retinoschisis

51
Q

‘X-linked’ primarily affects

A

Males

52
Q

X-Linked Juvenile Retinoschisis

A

Bilateral Maculopathy with peripheral schisis

53
Q

What causes X-Linked Juvenile Retinoschisis?

A

Defect in mullers —> split in NFL

54
Q

T/F: X-Linked Juvenile Retinoschisis includes macular involvement

A

TRUE

55
Q

Most useful diagnostic/monitoring tool for X-Linked Juvenile Retinoschisis

A

OCT

56
Q

Appearance of macula in X-Linked Juvenile Retinoschisis

A

Tiny cystoid spaces with radial/bicycle wheel striae

57
Q

Macula in X-Linked Juvenile Retinoschisis is best examined with

A

Red-Free Filter

58
Q

T/F: X-Linked Juvenile Retinoschisis typically reaches Ora

A

FALSE

59
Q
A

X-Linked Juvenile Retinoschisis

60
Q

T/F: Night vision is impaired in X-Linked Juvenile Retinoschisis

A

FALSE

61
Q

Peripheral retinoschisis typically in what quadrant?

A

IT

62
Q

Prognosis for X-Linked Juvenile Retinoschisis

A

Progresses slow with periods of regression, but still: poor prognosis

63
Q

Vitreal veils are common in ____

A

Retinoschisis

64
Q

North Caroline Macular Dystrophy: Grade 1

A

Yellow/white, drusen like deposits
May remain asymptomatic
Develops in 1st decade

65
Q

North Carolina MD: Grade 2

A

Deep confluent macular deposits
Possible CNV and subretinal scarring —> dec VA and scotoma

66
Q

North Carolina MD: Grade 3

A

coloboma-like atrophic macular lesion

67
Q

What geographical region is Gyrate most prevalent?

A

Finland

68
Q

Inheritance pattern of Gyrate

A

AR

69
Q

Clinical signs of Gyrate Atrophy

A
  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
Q

Prognosis for Gyrate

A

Poor; legal blindness by 4th-6th decade

71
Q

Abnormal testing for Gyrate

A

EOG, ERG, Dark Adaptation

72
Q

Choroideremia

A

Progressive degen of choroid, RPE, and PRs

73
Q

Inheritance pattern of choroideremia

A

X-linked recessive —> mainly affects males

74
Q

Manifestation of Choroideremia for Carrier Females

A

Scattered pigment mottling

75
Q

Choroideremia: Early Childhood

A

RPE mottling + mid-peripheral atrophy

76
Q

Choroideremia: 2nd Decade

A

Mid periphery choroidal thinning/atrophy
White sclera shows

77
Q

Choroideremia: Middle Age

A

360 Atrophy
Ring Scotoma on VF testing

78
Q

Choroideremia: Later stages

A

Retina contacts sclera
Macula affected
ON atrophy
Retinal artery attenuation

79
Q

By what age do you get central vision loss with Choroideremia?

A

50-60s

80
Q

Hallmark feature of CACD

A

Well defined zone of RPE/Choriocapillaris atrophy

81
Q

Central areolar Choroidal Dystrophy

A

Hereditary disorder affecting macular, resulting in progressive and profound vision loss

82
Q

Most prominent discriminating characteristic of Central Areolar Choroidal Dystrophy

A

FA:
- speckled pattern
- sharply demarcated oval shaped central macula

83
Q

Most common inheritance pattern of CACD

A

AD

84
Q

mutations in peripherin-2 (PRPH2) gene

A

CACD

85
Q

Dominant Drusen aka

A

Familial Dominant Drusen or Hereditary Dominant Drusen

86
Q

Mutation (R345W) in FBLN3 gene (EFEMP1) on Chromosome 2p16

A

Dominant Drusen

87
Q

T/F: Dominant Drusen associated with CNVM

A

FALSE

88
Q
A

RP

89
Q

RP is characterized by: (3)

A
  1. Nyctalopia
  2. VF loss (esp peripheral)
  3. Abnormal ERG
90
Q

RP is a dysfunction of

A

RODS

91
Q

T/F: RP can have cone involvement

A

TRUE, in late stages

92
Q

RP Fundus Triad

A
  1. Bone spiculing
  2. Vascular attenuation
  3. Waxy pallor atrophy
93
Q

Treatment for Leber’s Congenital Amaurosis

A

LUXTURNA — gene therapy

94
Q

RP Sine Pigmento

A

All clinical features of RP (-) bone spiculing

95
Q

Retinitis Punctata Albiscens

A

All clinical features of RP
(-) bone spiculing
(+) white dots

96
Q

Ushers Syndrome

A

RP + hearing loss

97
Q

Refsum’s Disease

A

Error of lipid metabolism —> RP, peripheral neuropathy, cerebellar ataxia, and elevated CSF protein

98
Q

Preferred ERG type for RP

A

mfERG gives more info

99
Q

Testing for RP

A

ERG
OCT Macula
Genetic Testing

100
Q

ERG findings for RP

A

Reduced implicit time and b-wave amplitude
30Hz Flicker affected in late stages

101
Q

What type of VF should be considered in a pt with RP?

A

Kinetic (for functional field testing)

102
Q

If Rxing Vitamin A for a RP pt, considerations?

A
  • Check liver function
  • Avoid high dose Vit E
  • May improve ERG but unknown if translates into real life
103
Q

Source of DHA for RP

A

Sardines, salmon, supplements

104
Q

Experimental RP treatment

A
  1. ADX 2191 — IV methotrexate
  2. Disulfiram — inhibits retinoic acid
  3. Genetic therapy
  4. Cell transplant
  5. Neurotrophic factors
  6. Retinal Prosthesis
105
Q

Pts with cone dystrophy feel more comfortable in (bright/dim) settings

A

Dim

106
Q

Primary presentation of Cone Dystrophy

A

Photophobia

107
Q

How is cone dystrophy diff from RP

A

Cones first

108
Q

Cone Dystrophy — age of onset

A

Early childhood (4-8) or young adulthood (teens-adulthood)

X. Post Seg 2 (13 decks)

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