Paediatric Retina ✔️ Flashcards

1
Q

What are the examples of disorders in stationary classification?

A

Congenital stationary night blindness & achromatopsia.

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2
Q

Retinitis pigmentosa is usually associated with:

A

Usher’s & cardiac disease.

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3
Q

What are the examples of retinal disorders?

10 points

A
  • Stargardt’s disease
  • Ocular albinism
  • Best’s disease
  • Choroidal dystrophies
  • Choroidaemia
  • Optic nerve hypoplasia
  • Naevus & choroidal melanoma
  • Retinal lesions
  • Infections
  • Coloboma
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4
Q

What is the inheritance of congenital stationary night blindness?

A

Autosomal recessive, dominant & X-linked.

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5
Q

What does the congenital stationary night blindness affect?

A

The rods photoreceptors.

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6
Q

What are the signs of progressive cone dystrophy?

A
  • photophobia
  • nystagmus
  • progressive vision loss
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7
Q

What is the function of RPE?

A
  • maintain visual cycle
  • maintenance of photoreceptors (glucose from RPE)
  • formation of rhodopsin & iodopsin
  • light absorption
  • barrier & transport
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8
Q

What are two classifications of paediatric retinal disorders?

A

Stationary & progressive.

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9
Q

What is the inheritance of retinitis pigmentosa?

A

Autosomal recessive, dominant & X-linked.

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10
Q

What are the examples of disorders in the progressive classifiation?

A

Leber’s congenital amaurosis, retinitis pigmentosa, & progressive cone dystrophy.

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11
Q

What are the signs of choroidaemia?

include appearance of fundus

A
  • Redness of retina dissipates
  • pheripheral vision loss
  • degeneration of macula
  • rapid deterioration vision loss
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12
Q

What is the appearance of fundus in Best’s disease?

A

Egg yolk macula.

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13
Q

Stargardt’s disease affects which photoreceptors?

A

Rods & cones.

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14
Q

What is the appearance of fundus in Stargardt’s disease?

A

White flecks around the macula.

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15
Q

What are the signs of retinitis pigmentosa?

include appearance of fundus

A
  • white chalky optic disc
  • pigment in the periphery of fundus
  • loss of peripheral visual field
  • cataract
  • macula oedema -> scarring & vision loss
  • attenuated blood vessels
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16
Q

What are the signs of optic nerve hypoplasia?

A
  • nystagmus
  • strabismus
  • range of VA - vision affected
17
Q

What are the signs of leber’s congenital amaurosis?

A
  • roving eye movement
  • poor vision
  • poor pupil response
  • undetectable ERG
18
Q

What does achromatopsia affect?

A

The cones photoreceptors.

19
Q

What is the inheritance of leber’s congenital amaurosis?

A

Autosomal recessive & dominant.

20
Q

OCT of leber’s congenital amaurosis usually shows:

A
  • retinal pigment speckling
  • reduction in photoreceptors layer
  • colour change of fundus
21
Q

What is the inheritance of achromatopsia?

A

Autosomal recessive.