Paediatric Retina ✔️ Flashcards
What are the examples of disorders in stationary classification?
Congenital stationary night blindness & achromatopsia.
Retinitis pigmentosa is usually associated with:
Usher’s & cardiac disease.
What are the examples of retinal disorders?
10 points
- Stargardt’s disease
- Ocular albinism
- Best’s disease
- Choroidal dystrophies
- Choroidaemia
- Optic nerve hypoplasia
- Naevus & choroidal melanoma
- Retinal lesions
- Infections
- Coloboma
What is the inheritance of congenital stationary night blindness?
Autosomal recessive, dominant & X-linked.
What does the congenital stationary night blindness affect?
The rods photoreceptors.
What are the signs of progressive cone dystrophy?
- photophobia
- nystagmus
- progressive vision loss
What is the function of RPE?
- maintain visual cycle
- maintenance of photoreceptors (glucose from RPE)
- formation of rhodopsin & iodopsin
- light absorption
- barrier & transport
What are two classifications of paediatric retinal disorders?
Stationary & progressive.
What is the inheritance of retinitis pigmentosa?
Autosomal recessive, dominant & X-linked.
What are the examples of disorders in the progressive classifiation?
Leber’s congenital amaurosis, retinitis pigmentosa, & progressive cone dystrophy.
What are the signs of choroidaemia?
include appearance of fundus
- Redness of retina dissipates
- pheripheral vision loss
- degeneration of macula
- rapid deterioration vision loss
What is the appearance of fundus in Best’s disease?
Egg yolk macula.
Stargardt’s disease affects which photoreceptors?
Rods & cones.
What is the appearance of fundus in Stargardt’s disease?
White flecks around the macula.
What are the signs of retinitis pigmentosa?
include appearance of fundus
- white chalky optic disc
- pigment in the periphery of fundus
- loss of peripheral visual field
- cataract
- macula oedema -> scarring & vision loss
- attenuated blood vessels
What are the signs of optic nerve hypoplasia?
- nystagmus
- strabismus
- range of VA - vision affected
What are the signs of leber’s congenital amaurosis?
- roving eye movement
- poor vision
- poor pupil response
- undetectable ERG
What does achromatopsia affect?
The cones photoreceptors.
What is the inheritance of leber’s congenital amaurosis?
Autosomal recessive & dominant.
OCT of leber’s congenital amaurosis usually shows:
- retinal pigment speckling
- reduction in photoreceptors layer
- colour change of fundus
What is the inheritance of achromatopsia?
Autosomal recessive.
