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Define the following regarding Choroideremia
dz characterized as
inheritance pattern
Gene/mutation
age of onset
symptons
- 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 40-50ssymptoms- nyctalopia, photophobia, constricted visual fields
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Define the following Gyrate Atrophy
dz characterized as
inheritance pattern
Defect
- characterized as pavestone degeneration of choriocapillaris (choroid) and RPE
- inheritance pattern-ARDefect- ornathine amino transferase (OAT)
- symptoms: nyctalopia, decreased vision, constricted visual fields
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Gyrate Atrophy
Treatment:
- restrict arginine
- B6 supplementation
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Describe features of Central Areolar Choroidal Dystrophy
age
- mottle depigmentation within the macula progressing to atrophy with visible choroidal vessels
- young
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Central Areolar Choroidal Dystrophy
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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
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X-linked retinochisis affects which layer of retina
nerve fiber
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Describe the below finding for X-linked retinochisis
ERG
FA
- negative waveform- nl a depressed b (inner retina has been sheared- photoreceptor still present)
- No leakage of CME on FA
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Adult retinochisis affects which layer of the retina
Outer Plexiform
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Pathognomonic finding in X-linked retinochisis
and describe the finding
- foveal retinoschisis
- radial spoke like ILM fold over foveal due to NFL dehiscence
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