Genetic Retinal Disease Flashcards
What is retinitis pigmentosa caused by
Loss of rod photoreceptors
Presentation of retinitis pigmentosa
Night time blindness
Progressive visual loss
How is retinitis pigmentosa inherited
Autosomal domination
Recessive
X linked
What is most commonest mutation in retinitis pigmentosa
RHO gene on chromosome 3
What does rho gene code for
Rhodopsin
Presentation of retinitis pigmentosa
Tunnel vision
Nyctalopia - night blindness
Decrease visual acuity
Bilateral involvement
Fundoscopy of retinitis pigmentosa
Retinal Pigmentary changes e.g. bony spicules
Waxy disc pallor
Arteriolar attenuation
Management of retinitis pigmentosa
None as such
Vitamin A
Gene therapy
Inheritance pattern of choroideremia
X linked
What is choroideremia
Widespread progressive degeneration of the photoreceptors, RPE and choriocapillaris
Complete loss of choroid which exposes the underlying white sclera
Who is most likely to be affected if it is x linked
Males
What gene is affected in choroideremia
CHM gene encoding the REP-1 protein
Fundosocpic finding in choroideremia
Widespread pigment clumping
What is leber congenital amaurosis
Cause profound visual loss by age of 1
Inheritance of leber congenital amaurosis
Autosomal recessive