15. Inherited retinal degenerations

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sookylala
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235351
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15. Inherited retinal degenerations
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2013-11-11 21:16:22
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Inherited retinal degenerations
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Inherited retinal degenerations
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  1. what is chorioderemia?
    • XL recessive
    • atrophy of choroid, RPE+PR from periph to post pole
  2. Presentation of choroideremia?
    20-30 nyctalopia
  3. Ocular signs of choroideremia
    • peripheral retinal degeneration: Hypo+mottled
    • myctalopia
    • midpreiph patches of RPE atrophy
    • VF loss
    • Intermediate: atrophy of RPE/choriocaps diffuse
    • chorio vessels atrophy exposing sclera
    • macula spared until late
  4. TX and prog of choroideremia
    • none
    • just manage visual function
    • poor
  5. ERG and FA of choroideremia?
    • scotopic: poor
    • photopic: ok
    • hypo: intact fovea
    • hyper: window defect
  6. What is gyrate atrophy?
    • metabolic disorder
    • gene mutation: fucks up orthinine degredation enzyme, increases orthinine
  7. presentation of GA?
    10-20 myopia+nyctalopia
  8. Signs of GA?
    • midperiph depig spots/mottling
    • chorioretinal atrophy-? coalesces to centre
    • attenuated vessels
    • macula spared til late
  9. TX of GA?
    • vit b6- less severe
    • lowered arginine diet
    • prog: poor, blind 40-60 from atrophy
  10. Tests for GA?
    • FA: demarcation at choroidal atrophy/filling
    • ERG: early decrease, late non recordable
  11. 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
  12. typical RP presentation
    • 2nd-3rd bilateral
    • attenuation+bone spicule pigmentation+waxy disc pallor
    • nyctalopia, peripheral loss (tunnel, VF), loss of central
  13. 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
  14. Complications of RP?
    PSC, PVD, acquired titran, OAG, myopia, ODD
  15. DDX RP?
    • fundus: bear tracks, choroideremia, choroidal edema
    • nyctalopia: choroideremia, GA, CSNB
  16. Tests of RP?
    ERG: early loss R and combined, late C loss then X
  17. Prognosis and tx of RP?
    • vit a
    • XL poor, AR ok central, AD good central
  18. Congenital stationary night blindness?
    infantile nyctalopia, non progressive retinal dysfunction
  19. Normal fundus CSNB types?
    • 1. no rod, yes coneĀ 
    • 2. impairment both r and c
  20. Abnormal fundus CSNB?
    • oguchi: golden colour, rod fucntion after 30 mins dark adaptation
    • fundus albipunctatus: yellow white spots at posterior pole
  21. Achromatopsia?
    • VA 6/60, normal macula appearance
    • congenital nystagmus and photophobia
    • CV absent
  22. Stargardts + fundus flavimaculatus
    AR
  23. Presentation of stargardts + FFM?
    • bi central vision loss
    • 10-20
  24. signs of stargardts?
    • macula: mottling, beaten bronze, snail slime, bulls eyes maculopathy
    • flecks: star- early, post pole
    • FFM- accumulate RPE, fundus, adult
  25. Tx and prognosis for stargardts?
    • none
    • poor: maculopathy
  26. Tests for stargardts?
    • ERG: photopic bad, scoptopic good
    • FA: hyper- window from old flecks
    • hypo- from new flecks blockage
  27. Lebers congenital amaurosis?
    AR, onset child, R-C
  28. Presentation of Lebers?
    blind at birth, roving eye movements, nystagmus
  29. 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
  30. Lebers assoc with?
    strabismus, hyperopia, keratoconus/globus
  31. ERG of lebers?
    nope
  32. Best's juvenile vitelliform dystrophy?
    AD
  33. Presentation of best?
    asx va fine
  34. Signs of best?
    • yellow macular lesion
    • scrambled yolk- decrease VA
    • atrophic after pigment disappears
  35. Prognosis of best?
    ok til va drops
  36. Test of best?
    FA hypo blockage from pigment in macula
  37. Adult vitelliform dystrophy?
    40-60 decrease VA
  38. Presentation of adult?
    • bi, round/oval yellow dsposits in macula
    • macula drusen
  39. Sorsby macula dystrophy?
    AD bi VA loss 30
  40. Sorsby presentation?
    • nyctalopia, sudden VA loss
    • yellow-white drusen
    • severe VA loss exudative maculopathy
    • peripheral chorioretinal atrophy
  41. Prognosis sorsby?
    poor from
  42. Familial exudative vitreoretinopathy?
    AD, child poor prof
  43. signs of familial?
    • vit degen
    • peripheral VR attachments
    • tortuosity+telengectasias
    • fv proliferation
    • VR traction
    • ridge+RD
  44. X linked juvenile retinoschisis?
    males, 5-10, reading problems- maculopathy
  45. x linked signs?
    • cystic stellate maculopathy/foveal schisis
    • peripheral schisis: ILM, NFL oval defects
    • silver dendretic figures, sheathing, pig changes
  46. complications of xlinked?
    • vitreous and inner schisis haem
    • nv
    • subret exudation
  47. Pro of xlink?
    poor- maculopathy

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