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UCL Medical Retina 2 > Unit 6 - Inherited retinal disease > Flashcards

Unit 6 - Inherited retinal disease Flashcards

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USMLE® Step 1 flashcards
1
Q

How common are inherited retinal diseases?

A

1 in 3000

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2
Q

As a cause of SSI how important is inherited retinal disease?

A

Leading cause in adults and second in kids

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3
Q

When suspecting inherited retinal disease what questions should we ask?

A
  1. Central/peripheral
  2. Bilateral/symmetrical
  3. Day or night
  4. Family history
  5. Medical history
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4
Q

Why do we bother gene testing?

A

To prove it is genetic
To give an idea of risk to kids
To see if treatable RPE65

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5
Q

What is optogenetics?

A

Making other neurons light sensitive i.e. bipolar cells

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6
Q

In Best’s disease what signs would you see?

A

Yellow deposit at macula

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7
Q

What vision would you expect in Best’s?

A

Pretty normal until middle age then vision declines

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8
Q

What is the cause of BEST’s disease?

A

Lipofuscin accumulation in RPE leading to photoreceptor destruction?

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9
Q

What is the genetic cause of BEST’s disease?

A

BEST1 missense mutation. BEST 1 modulates calcium channel function.

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10
Q

What sort of inheritance pattern does most BEST follow?

A

AD

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11
Q

What are the stages of BESTs disease?

A

0,normal fundus (abnormal EOG)
I - minor RPE changes
II - typical vitelliform lesion
IIa - scrambled egg appearance (v/a often deteriorates at this stage)
III - pseudohypopyon phase
IVa - atrophic RPE
IVb - fibrous scar tissue
IVc - CNVM

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12
Q

What would you expect in electrophysiology testing in BEST’s?

A

Reduced EOG
Normal ERG

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13
Q

What would a FAF look like in BESTs?

A

Yellowish material is intensely hyperautofluorescent becomes hypo went atrophy occurs

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14
Q

What would an FFA look like in BESTs?

A

Hypofluorescent due to masking

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15
Q

How common is BESTs?

A

Second commonest inherited retinal disease

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16
Q

What signs would you get in Stargadt’s disease?

A

Fundus mottling
Yellow-white flecks in RPE
Peripheral RP like pigmentation

17
Q

What would electrophysiology be like in Stargardt’s?

A

Abnormal pattern ERG
Full field ERG variable
EOG may also be abnormal

18
Q

What is the genetic cause of Stargardt’s?

A

ABCA4 mutation leads to defective transporter protein responsible for removal of all-trans retinal from OS disc

19
Q

What sort of inheritance is Stargardt’s?

A

AR but carrier rate is as high as 1 in 50

20
Q

What is the treatment of Stargardt’s?

A

Avoidance of excessive light, vitamin A supplementation

21
Q

What future treatments of Stargardt’s are being considered?

A

Gene replacement therapy
Tissue replacement
Pharmacological agents to slow the visual cycle

22
Q

What does the FFA and FAF look like in Stargardt’s?

A

FFA - dark choroid due to masking of choroidal fluorescence
FAF distinc pattern of hyperreflective flecks and dark central atrophy

23
Q

How does atrophy occur in Stargardt’s?

A

Photoreceptor loss is secondary to build up of lipofuscin and A2E in RPE.

24
Q

Which patients are affected with X-linked retinoschisis?

A

Men only - x linked

25
Q

What would the electrodiagnostics look like the x-linked retinoschisis?

A

Electronegative full field ERG - b wave smaller than a wave

26
Q

Which gene is affected in x-linked retinoschisis?

A

RS1

27
Q

What treatment may help x-linked retinoschisis?

A

Carbonic anhydrase inhibitors
Vitrectomy for RD or VH
Gene therapy has worked in mouse model

28
Q

What is the appearance of x-linked retinoschisis?

A

Whitish drusen-like dots and pigment variaion

29
Q

What % of x- linked retinoschisis patients will have peripheral retinal changes?

A

50%

30
Q

What does the RS1 gene do?

A

Loosens adhesion between cells allowing fluid accumulation

31
Q

What other ocular signs are associated with X-linked retinoschisis?

A

Amblyopia
Strabismus

32
Q

What is inheritance pattern in Doyne honeycomb choroiditis?

A

AD - dominant drusen

33
Q

What is different about drusen in dominant drusen?

A

Around disc
Symmetrical

34
Q

What gene is responsible for dominant drusen?

A

EFEMP1

UCL Medical Retina 2 (30 decks)

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