Chorodial Dystrophies

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  1. Define the following regarding Choroideremia
    dz characterized as
    inheritance pattern

    age of onset
    • characterized as diffuse degeneration of RPE and chriocapillaris
    • inheritance pattern-X-linked recessive
    • Gene/mutation -CHM
    • -geranyl-gernayl transferase RAB escort protein
    • age of onset-late childhood slow course to 40-50s
    • symptoms- nyctalopia, photophobia, constricted visual fields
  2. Define the following Gyrate Atrophy
    dz characterized as
    inheritance pattern
    • characterized as pavestone degeneration of choriocapillaris (choroid) and RPE
    • inheritance pattern-AR
    • Defect- ornathine amino transferase (OAT)
    • symptoms: nyctalopia, decreased vision, constricted visual fields
  3. Gyrate Atrophy
    • restrict arginine
    • B6 supplementation
  4. Describe features of Central Areolar Choroidal Dystrophy

    • mottle depigmentation within the macula progressing to atrophy with visible choroidal vessels
    • young
  5. Image Upload 1
    This picture represents
    Central Areolar Choroidal Dystrophy
  6. Describe clinical features of north carolina macular dystrophy
    age of onset
    • cluster of peculiar yellow white lesions at RPE progressing to atrophy/staphaloma
    • infancy stabilizing as teens
  7. X-linked retinochisis affects which layer of retina
    nerve fiber
  8. Describe the below finding for X-linked retinochisis
    • negative waveform- nl a depressed b (inner retina has been sheared- photoreceptor still present)
    • No leakage of CME on FA
  9. Adult retinochisis affects which layer of the retina
    Outer Plexiform
  10. Pathognomonic finding in X-linked retinochisis
    and describe the finding
    • foveal retinoschisis
    • radial spoke like ILM fold over foveal due to NFL dehiscence
Card Set
Chorodial Dystrophies
Choroidial Dystrophy
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