Remarks |
Clinically affected; diagnosed at age 18; problems with night vision by age 4-5; increasing difficulty with light and dark adaptation; depth perception, and peripheral vision; visual fields markedly constricted; fundi showed pigmented spicules of the periphery; waxy pallor of disc; generalized arteriolar narrowing; cataract; flat ERG; EOG value of 108%; see GM05378 fibroblast
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