Brainscape's Knowledge GenomeTM

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


See full index

OD3 (S1&2) > DIS - Inherited Retinal Disease - Week 2 > Flashcards

DIS - Inherited Retinal Disease - Week 2 Flashcards

1
Q

What are most genetic diseases and how is AMD different to them?

A

Many inherited retinal diseases are monogenic
AMD involves multiple genes, environmental factors, dietary factors, and lifestyle habits

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

Can the exact same mutations in one gene cause different disease presentations or do they always have the same outcome?

A

Can cause different presentations
-epistasis

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

Define epistasis.

A

A form of gene-gene interaction in which genes not directly involved in causing the disease have an effect on the phenotypic expression of the disease trait (caused by the mutation in another gene)

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

What are rod-cone dystrophies?

A

A family of progressive diseases in which rod dysfunction is more severe than cone dysfunction

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

Can rod-cone dystrophies cause night blindness?

A

Yes

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

What kind of vision loss do rod-cone dystrophies cause?

A

Peripheral loss

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

Describe the severity and progression of rod-cone dystrophies at birth or if developed in childhood.

A

Severe at birth, with little progression
Can be developed in childhood with rapid progression
-usually results in severe vision loss and nystagmus

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

Describe how delayed onset rod-cone dystrophies differ from early onset. Do they result in complete vision loss or nystagmus?

A

Symptoms develop late and progress more slowly
Rarely results in near complete vision loss or nystagmus

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

What kind of disease is lebers congenital amaurosis and what kind of mode of inheritance does it have? Is it common or rare?

A

Common form of early onset rod-cone dystropy
Autosomal recessive

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

What kind of vision is present since birth for those with lebers congenital amourosis? What else is present?

A

Very poor vision with roving nystagmus

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

What is the fundus like in lebers congenital amourosis?

A

May appear normal or may show abnormalities

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

Is ERG normal or abnormal with lebers congenital amourosis?

A

Abnormal

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

Is x-linked retinitis pigmentosa a common or uncommon form of retinitis pigmentosa? What about rod-cone dystrophy?

A

Common form of early onset rod-cone dystrophy, but not a common form of RP overall

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

Which gender is usually fully affected with x-linked retinitis pigmentosa? Explain.

A

Males usually fully affected
Females often have milder form (can be fully affected)

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

What is vision like in childhood with x-linked retinitis pigmentosa? What eventually happens?

A

Fairly good vision in childhood, but lose both peripheral and central vision rapidly

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

How many genes have been implicated in x-linked retinitis pigmentosa?

A

At least 6

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

What is the most common form of retinitis pigmentosa?

A

Autosomal recessive

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

List three classical features of retinitis pigmentosa.

A

Night blindness
Loss of peripheral vision
Intraretinal pigmentation
-bone spicule-like

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

Are the dominant or recessive forms of retinitis pigmentosa often more severe?

A

Recessive forms often more severe

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

How many genes are implicated in autosomal recessive retinitis pigmentosa?

A

At least 25

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

What is the second-most common form of retinitis pigmentosa?

A

Autosomal dominant

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

Does autosomal dominant retinitis pigmentosa have the classical features of retinitis pigmentosa?

A

Yes

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

Describe the severity, age of onset, and penetrance of autosomal dominant retinitis pigmentosa (2).

A

It varies widely depending on abnormal function gained and haploinsufficiency

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

Is it easy or difficult to predict causal gene from the observed phenotype in autosomal dominant retinitis pigmentosa?

A

Difficult

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

How many genes are implicated in autosomal dominant retinitis pigmentosa?

A

At least 18

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

Describe cone-rod dystrophies.

A

Family of progressive diseases in which cone dysfunction is more severe than rod dysfunction

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

What kind of vision loss is expected in cone-rod dystrophies?

A

Loss of central vision - central scotoma

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

What is seen on ERG with cone-rod dystrophies?

A

Cone-driven ERG responses affected

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

Is retinal damage typically seen with cone-rod dystrophies?

A

Yes
-atrophy and/or pigmentary changes

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

True or false
Cone dystrophies are allelic to cone-rod dystrophies
Explain what this means.

A

True
Cone and cone-rod dystrophies
represent phenotypic variations of the same disease

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

True or false
Cone and cone-rod dystrophies do not cause light aversion.

A

False
They do

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

How many genes are implicated for the following cone and cone-rod dystrophies?
X-linked
Autosomal recessive
Autosomal dominant

A

X-linked - at least 1
Autosomal recessive - at least 13
Autosomal dominant - at least 13

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

What are vitreoretinal dystrophies?

A

Retinal disorders associated with vitreal degeneration

34
Q

What is one of the most common causes of macular disease in male children? Especially what ethnicity?

A

X-linked retinoschisis
-finnish

35
Q

What would yuo expect to see on an ERG with retinoschisis (2)?

A

Selective reduction in b-wave of DA-white ERG
-reduced b/a-wave ratio

36
Q

What does enhanced S-cone syndrome cause and what mode of inheritence? Does it cause vision loss? What about night vision and at what age? What happens to the other cones?

A

Gain in function of s-cones
Causes visual loss with night blindness from early age
Varying degree of L and G cone vision and retinal degeneration

37
Q

What happens to the retina with enhanced S-cone syndrome and what area?

A

Abnormally thick retina in annulus surrounding the fovea

38
Q

What is the severe form of enhanced S-cone syndrome called and what is it similar to?

A

Goldmann-favre vitreoretinal dystrophy
-similar to clumped pigmentary retinal degeneration

39
Q

What can enhanced S-cone syndrome mimic?

A

X-linked retinoschisis

40
Q

What would you expect to see on ERG with enhanced S-cone syndrome (2)?

A

Both DA white and LA white ERG responses are usually electronegative

41
Q

How many genes are implicated in enhanced S-cone syndrome?

A

1

42
Q

What mode of inheritence do the following have:
Sticker syndrome
Wagner syndrome

A

Both autosomal dominant

43
Q

What are exudative vitreoretinopathies (3)?

A

Predisposition to retinal exudates
Leaky angiography
Predisposition to seous retinal detachments

44
Q

Is it common or rare to lose all vision in retinitis pigmentosa?

A

Rare

45
Q

Describe retinitis pigmentosa and dark adaptation and night blindness.

A

Those with RP have difficulty with dark adaptation and night blindness during adolescence

46
Q

Describe the progression of vision loss over time with retinitis pigmentosa (3).

A

Lose mid-peripheral vision, then far peripheral vision in adulthood
Eventually tunnel vision
-reductions in central vision occur later

47
Q

Are the signs and symptoms of retinitis pigmentosa consistent or highly variable?

A

Highly variable

48
Q

What three things can you expect to see in advanced cases of retinitis pigmentosa?

A

Intraretinal bone spicule pigmentation in the midperiphery
Waxy pallor of the optic disc
Attenuated retinal blood vessels

49
Q

Why do bony spicule pigmentation occur where they do in retinitis pigmentosa?

A

In the midperiphery because this is the region of greatest rod density

50
Q

What five things may you see in early cases of retinitis pigmentosa?

A

Night blindness
Loss of peripheral vision
Difficulty with tasks requiring good VA
Myopia/astigmatism
Hearing loss

51
Q

Define nyctalopia.

A

Night blindness

52
Q

What is the progression of night blindness like in retinitis pigmentosa and when is it typically first noticed?

A

Often slow and insidious onset/progression
First noticed 2nd or 3rd decade

53
Q

What percentage of retinitis pigmentosa patients will develop cystoid macula oedema, if any?

A

10%

54
Q

What will most retinitis pigmentosa patients develop in adulthood?

A

Posterior subcapsular cataract

55
Q

Is hearing loss common or rare in retinitis pigmentosa patients?

A

Common

56
Q

List the nine components of assessing retinitis pigmentosa.

A

VA
Refraction
Visual fields
Colour vision
Dark adaptation
Slit lamp
Ophthalmoscopy
ERG
OCT

57
Q

What would you expect of VA when assessing retinitis pigmentosa? What about early cases?

A

Can remain normal
-can be lost early

58
Q

What is myopia with retinitis pigmentosa more indicative of? What about hypelopia?

A

Myopia greater than -2.00D - more likely to be X-linked
Hyperopia - more likely to be autosomal dominant

59
Q

What kind of visual field defects would you expect when assessing retinitis pigmentosa?

A

Mid-peripheral scotomas early, which expand outward and inward

60
Q

Describe the progression of visual field defects over time in retinitis pigmentosa towards the pole and towards the periphery.

A

Mid-peripheral scotomas early
-central margin is steeper and progresses slowly
-peripheral margin is flatter and progresses rapidly

61
Q

Are defects often symmetrical or asemmetrical in retinitis pigmentosa?

A

Symmetrical

62
Q

What may retinitis pigmentosa visual field defects mimic? What two things should it not be confused with?

A

Arcuate defect
-dont confuse with glaucoma or ONH drusen

63
Q

When should central field testing be done for retinitis pigmentosa cases, if at all?

A

Late stage

64
Q

What is expected of colour vision in retinitis pigmentosa? What may other abnormalities indicate?

A

Normal (early) or acquired tritanopia (late)
-other abnormalities may indicate cone or cone-rod dystrophy

65
Q

What may you find on slit lamp examination of a retinitis pigmentosa patient?

A

Posterior sub-capsular cataract

66
Q

What may commonly be seen in the vitreous humour of retinitis pigmentosa patients?

A

Cells

67
Q

Why should you do OCT for retinitis pigmentosa (2)?

A

Assess the status of the photoreceptor layer (ISe integtrity)
Identify presence/absence of CMO

68
Q

List 6 other syndromes that are differential diagnoses for retinitis pigmentosa.

A

Usher
Bardet-biedl
Alport
Cohen
Jeune
Cockayne

69
Q

List four conditions that mimic retinitis pigmentosa.

A

Syphillis
Measles
Trauma
Drug toxicities

70
Q

What drug toxicity can mimic retinitis pigmentosa?

A

Quinine/chloroquine

71
Q

List three conditions that cause RPE disruptions that are differential diagnoses for retinitis pigmentosa.

A

Old retinal detachment
Choroideremia
Gyrate atrophy

72
Q

What four referrals may cases of retinitis pigmentosa require?

A

Ohpthalmological examination
Electrodiagnosis (ERG)
Dark adaptationGenetic counselling

73
Q

What five baselines should be maintained for retinitis pigmentosa patients?

A

VA
Colour vision
Visual fields
Retinal photography
Dark adaptation

74
Q

List 5 vision rehabilitation options for retinitis pigmentosa patients.

A

Tinting
Night vision goggles
Wide angle mobility lamp
Field expanders
Hand-held/computer assisted magnifiers

75
Q

Which of the following treatment options are effective for retinitis pigmentosa:
Vitamin/minerals, vasodilators, tissue therapy with placental extract,
cortisone, cervical sympathectomy, injections of a hydrolysate of yeast ribonucleic acid
(RNA), ultrasound, transfer factor, dimethyl sulfoxide (DMSO), ozone, muscle
transplants, and subretinal injections of foetal retinal cells.

A

None of these have been proven

76
Q

What is the effect of vitamin A supplementation on retinitis pigmentosa ERG? What about VA and visual fields?

A

Slows decline in ERG amplitude
VA and visual fields not significantly affected

77
Q

List two risks of taking high dose vitamin A.

A

Hip fractures
Birth defects (not recommended for pregnant women)

78
Q

What is the effect of vitamin A supplementation on retinitis pigmentosa patients?

A

No clear benefit

79
Q

Does light exposure in retinitis pigmentosa speed up degeneration? Explain.

A

In animals yes
In humans, there was no effect

80
Q

List 4 possible future treatment options for retinitis pigmentosa.

A

Gene therapy
Nutritional/neuroprotective intervention
Transplantation (stem cells)
Implants

OD3 (S1&2) (114 decks)

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