15. Inherited retinal degenerations
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what is chorioderemia?
- XL recessive
- atrophy of choroid, RPE+PR from periph to post pole
Presentation of choroideremia?
Ocular signs of choroideremia
- peripheral retinal degeneration: Hypo+mottled
- midpreiph patches of RPE atrophy
- VF loss
- Intermediate: atrophy of RPE/choriocaps diffuse
- chorio vessels atrophy exposing sclera
- macula spared until late
TX and prog of choroideremia
- just manage visual function
ERG and FA of choroideremia?
- scotopic: poor
- photopic: ok
- hypo: intact fovea
- hyper: window defect
What is gyrate atrophy?
- metabolic disorder
- gene mutation: fucks up orthinine degredation enzyme, increases orthinine
presentation of GA?
Signs of GA?
- midperiph depig spots/mottling
- chorioretinal atrophy-? coalesces to centre
- attenuated vessels
- macula spared til late
TX of GA?
- vit b6- less severe
- lowered arginine diet
- prog: poor, blind 40-60 from atrophy
Tests for GA?
- FA: demarcation at choroidal atrophy/filling
- ERG: early decrease, late non recordable
What is RP and types?
- collection of geneitcally diverse Rod-cone dystrophies
- 1: early diffuse loss of rod sens- early nyctalopia
- later prog+loss of VF
- 2:combined loss of R+C sensitivity
- later nyctalopia
typical RP presentation
- 2nd-3rd bilateral
- attenuation+bone spicule pigmentation+waxy disc pallor
- nyctalopia, peripheral loss (tunnel, VF), loss of central
signs of typical RP?
- 1: midp RPE atrophy, bone, ate narrowing
- 2: pig changes
- 3: tesellated fundus- atrophy- choroidal vessels
- 4: art narrowing, waxy disc pallor
- 5: macula atrophy, ERM + CMO
Complications of RP?
PSC, PVD, acquired titran, OAG, myopia, ODD
- fundus: bear tracks, choroideremia, choroidal edema
- nyctalopia: choroideremia, GA, CSNB
Tests of RP?
ERG: early loss R and combined, late C loss then X
Prognosis and tx of RP?
- vit a
- XL poor, AR ok central, AD good central
Congenital stationary night blindness?
infantile nyctalopia, non progressive retinal dysfunction
Normal fundus CSNB types?
- 1. no rod, yes cone
- 2. impairment both r and c
Abnormal fundus CSNB?
- oguchi: golden colour, rod fucntion after 30 mins dark adaptation
- fundus albipunctatus: yellow white spots at posterior pole
- VA 6/60, normal macula appearance
- congenital nystagmus and photophobia
- CV absent
Stargardts + fundus flavimaculatus
Presentation of stargardts + FFM?
- bi central vision loss
signs of stargardts?
- macula: mottling, beaten bronze, snail slime, bulls eyes maculopathy
- flecks: star- early, post pole
- FFM- accumulate RPE, fundus, adult
Tx and prognosis for stargardts?
Tests for stargardts?
- ERG: photopic bad, scoptopic good
- FA: hyper- window from old flecks
- hypo- from new flecks blockage
Lebers congenital amaurosis?
AR, onset child, R-C
Presentation of Lebers?
blind at birth, roving eye movements, nystagmus
Signs of Lebers?
- no pupil light reflexes
- normal fundus: art narrowing
- mild mid pre pig changes: salt pepper
- macula: sever pigment
- Later: pigmentation of retina, optic atrophy, art narrowing
Lebers assoc with?
strabismus, hyperopia, keratoconus/globus
Best's juvenile vitelliform dystrophy?
Presentation of best?
asx va fine
Signs of best?
- yellow macular lesion
- scrambled yolk- decrease VA
- atrophic after pigment disappears
Prognosis of best?
ok til va drops
Test of best?
FA hypo blockage from pigment in macula
Adult vitelliform dystrophy?
40-60 decrease VA
Presentation of adult?
- bi, round/oval yellow dsposits in macula
- macula drusen
Sorsby macula dystrophy?
AD bi VA loss 30
- nyctalopia, sudden VA loss
- yellow-white drusen
- severe VA loss exudative maculopathy
- peripheral chorioretinal atrophy
Familial exudative vitreoretinopathy?
AD, child poor prof
signs of familial?
- vit degen
- peripheral VR attachments
- fv proliferation
- VR traction
X linked juvenile retinoschisis?
males, 5-10, reading problems- maculopathy
x linked signs?
- cystic stellate maculopathy/foveal schisis
- peripheral schisis: ILM, NFL oval defects
- silver dendretic figures, sheathing, pig changes
complications of xlinked?
- vitreous and inner schisis haem
- subret exudation
Pro of xlink?
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