- Affects only males
- Female carriers have normal vision and are normal on ophthalmic
examination
- Age of onset is in the first decade
- Histopathologically, there is a split between the nerve fiber and
ganglion cell layer
- Clinical features:
- Symptoms: decreased central vision (20/25 - 20/50) and slowly
progressive
- Signs:
- Presence of perifoveal microcystic changes with spoke wheel-like
plications of the overlying ILM, often referred to as stellate
maculopathy which are better seen on red-free fundus photography
- Peripheral retinal schisis occurs in 50% of cases
- The most common location for this peripheral schisis is
the inferotemporal quadrant
- Potential findings at later ages as the condition progresses
may include RPE changes. macular hole, retinal dragging with
vitreous strands, complicated with vitreous hemorrhage and
rhegmatogenous retinal detachment
- Ancillary Test:
- Fluorescein angiographic reveals similar pattern to that of
cystoid macular edema, but without leakage of dye in the late
phase
- Visual field testing shows an absolute scotoma that corresponds
to the areas of peripheral schisis
- ERG shows refuced photopic and scotopic b-wave
- Management:
- Observation, since this is a slowly progressive condition where
patients maintain their visual acuity for a long period of time
- Surgical management is necessary if complications such as retinal
detachment, vitreous hemorrhage or macular hole should occur
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