Ch 9 Hereditary Retinal/Chorodial Dystrophy

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  1. RDS/peripherin gene is associated with what dz?
    • Cone Rod Dystrophy
    • RP
    • Pattern Dystrophy
  2. Rhodopsin is associated with what disorders?
    • CSNB
    • RP
  3. CRX cone rod homeobox containing gene is associated with?
    • Leber Congential Amaurousis
    • COne Rod Dystrophy
  4. Diseases associated with Negative Wave forms

    A wave normal but b wave doesnt not return to isoelectric point
    • X-linked Retinoschisis
    • CSNB
    • Enhanced S cone syndrome (Goldman Favre)
  5. Nonrecordable ERG
    • Lebers Congential Amarousis
    • RP
    • Retinal aplasia
    • Total RD
  6. Define Retinitis Pigmentosa
    • Hereditary disorder involving photoreceptor and pigment epithelial function with
    • progressive VF loss and abnormal ERG
  7. Name the key finding in Retinitis Pigmentosa.
    • Pallor waxy of optic disc
    • inheritance pattern --varied
    • gone loss of foveal light reflex
    • macular edema (CME)
    • epiretinal membrane
    • night blindness
    • total loss of ERG rod and cone signals
    • posterior subcapsular cataracts
    • spicules bone
    • attenuated blood vessels
  8. What does the macular edema in RP respond to?
  9. Dx of RP
    • Old vascular occlusion
    • diffuse uveitis
    • syphilis
    • paraneoplastic syndrome
    • retinal drug toxicity
    • Vit a toxicity
  10. Name the 6 RP variants and describe each one.
    • Sine pigmento-
    • Lebers congenital amaurosis-infantile form of RP
    • Sectoral RP- 1 -2 sectors of pigment changes with abnormal VF
    • Unilateral RP-rare
    • Reverse RP-macular bone spicules
    • Retinitis Punctata-small white dots in periphery, no bone spicules
  11. Inheritance patterns frequency in RP
    Least common-
    Most severe-
    • MCC- AR
    • Least common-x linked
    • Most severe-AD
  12. Lebers Congenital Amaurosis -define the below characteristics:
    • Vision- reduced from birth
    • ERG-undetectable rod/cone
    • Inheritance- AR
  13. Lebers Congenital Amaurosis -define the below characteristics:
    • symptoms-oculodigital reflex to ellicit/wondering nystagmus, poor vision
    • intelligence-normal
    • fundus early: wnl late: subretinal black pigments clumps/bone spicules
  14. Dx of bulls eye maculopathy (8)
    • ARMD
    • Batton Dz Ceroid Lipofuscinosis
    • Cone and cone rod Dystrophy
    • Chloroquine Toxicity
    • Chronic macular hole
    • Central Areolar Choridal dystrophy
    • Olivopontocerebellar dystrophy
    • Stargarts Dz
  15. Cone Dystropy
    ERG findings
    • Symptoms
    • poor color vision
    • poor daytime vision
    • progressive central vision loss
    • ERG-loss of cone signs
    • Fundus- bulls eye maculopathy
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Ch 9 Hereditary Retinal/Chorodial Dystrophy

Hereditary Retinal/Chorodial Dystrophy
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