Unit 6 - other retinopathies Flashcards

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1
Q

Which is more common type 1 or type mac tel?

A

Type 2

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2
Q

What is the pathogenesis of mac tel?

A

Postmortem histopathology show Muller cell loss.

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3
Q

What is the disease progression in foveo-macula vitelliform degeneration?

A

yellow material fades and GA develops

CNVM may develop (rarely)

photoreceptor loss may predispose patient to a macula hole

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4
Q

Is type 2 mac tel bilateral or unilateral?

A

Bilateral

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5
Q

What percentage of the over 40 population is affected by mac tel?

A

0.1%

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6
Q

What is the differential diagnosis in foveo-macula vitelliform degeneration?

A

Best’s disease - lesions appear earlier in life and are smaller

AMD - lesions appear later and are less discrete that in AFMVD

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7
Q

What are the clinical signs of foveo-macula vitelliform degeneration?

A

Pigment

Round, yellow discrete lesions in or near macula

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8
Q

In autosomal dominant dystrophies what % of children will be affected?

A

50% but with difference in severity

Male = female

Does not skip a generation

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9
Q

What ocular investigations should be conducted in foveo-macula vitelliform degeneration?

A

Photography

OCT

FFA, may show hyper-fluorescent staining with a corona sign possible present.

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10
Q

What is the pathogenesis of foveo-macula vitelliform degeneration?

A

Don’t know

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11
Q

What are the symptoms of foveo-macula vitelliform degeneration?

A

None or mild reading difficulties

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12
Q

In autosomal recessive what % of children will be affected?

A

25% if both parents carriers

Male = female

e.g. Stargardt’s

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13
Q

What % chance does a female carrier of an X-linked disease have an having affected children?

A

50% risk of a son be affected

50% risk of daughter being a carrier

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14
Q

What is the prognosis in foveo-macula vitelliform degeneration?

A

Generally good but can cause significant visual loss

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15
Q

What are the clinical signs of type 1 mac tel?

A

Copious hard exudates

V/a approximately 6/12

1-2 disc diameter of telangiectasis temporal to fovea

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16
Q

When does adult onset foveo-macula vitelliform degeneration become apparent?

A

4th and 5th decade

17
Q

What does mac tel look like?

A

Looks like a macula hole with DMO although retinal thickness not as bad as DMO

Retinal crystals

Normal or subtle grey appearance to central mac

18
Q

What is mac tel?

A

An ectasia of retinal capillaries where there is irregular capillary dilatation.

19
Q

Who does adult onset foveo-macula vitelliform degeneration affect more men or women?

A

Women more than men

20
Q

What treatment is there for mac tel?

A

Focal laser to individual telangiectasia

Macula grid laser (PDT and conventional laser are ineffective)

Anti-VEGF if SRF CNVM develops

Nerve fibre growth factors may delay progression

21
Q

Are men or women more affected by mac tel type 1?

A

Men (90%)

22
Q

if cones are affected in a dystropy more than rods how would it be described?

A

Cone-rod dystrophy

23
Q

What is the inidence of RP?

A

1 in 4000

24
Q

Where do the bony spicules of RP come from?

A

Pigment in RPE liberated from degenerated retina.

25
Q

What is a monogenic retinal dystrophy?

A

Dystrophy caused by one gene mutation.

26
Q

What is a molecular diagnosis?

A

A diagnosis confirmed with DNA testing.

27
Q

How is mitchondrial disease passed on?

A

Through the mother

Children of affected males are unaffected

Children of affected females will have mutation

E.g. Maternally inherited deafness and diabetes

28
Q

If the disorder has extraocula manifestations what is it called?

A

Syndromic

29
Q

What is the most common syndromic RP and what is it associated with?

A

Usher’s syndrome

Associated with deafness

30
Q

What part of the cell is affected in Usher’s sydrome?

A

The cilium that connects outer segments to inner segments.

Also present in auditory hair hence deafness.

31
Q

Which genes are responsible for the manufacturer of the following protein?

  • RHO
  • USH2A
  • RPGR
  • RP2
A
  • Rhodopsin
  • Usherin
  • RPGR
  • RP2
32
Q

What is the most common cone-rod dystrophy and what gene does it affect?

A

Stargardt’s, ABCA4

33
Q

How common are cone-rod dystrophies?

A

1 in 40,000

34
Q

What are the initial symptoms of a cone-rod dystrophy?

A

Poor v/a

Sensitive to bright lights

Colour vision defects.

35
Q

What ocular tests should be conducted on a patient with suspected Stargadt’s?

A

Electrophysiology

36
Q

What ocular signs would you expect with AD Drusen?

A

Drusen orientating radially away from macula and next to optic disc.

37
Q

Which gene is responsible for Best’s disease?

A

BEST1

38
Q

In AD Best’s disease what are the signs and symptoms?

A
  • Hyperautofluorescence at macula
  • Hyperopia
  • EOG light rise absent
  • Scars/fluid
  • Very variable
39
Q

What are the signs and symptoms in AR Best’s disease?

A
  • 6/36 v/a
  • Longstanding poor vision
  • Chronic irf/srf,