| Remarks |
Clinically affected; decreased night vision since age 14; intermittent visual defects in peripheral field since age 18-19; siderotic vitreous cavity with a few pigmented cells; fundus exam revealed marked arteriolar attenuation, optic nerve pallor, and generalized pigmentary stippling; some surface wrinkling retinopathy in the posterior pole of both eyes; focal areas of bone corpuscular pigmentation; visual fields showed large mid-peripheral scotoma; sister has problems with night vision; ERG was extinguished for both eyes; EOG was flat bilaterally; see GM05345 fibroblast
|