Sex-linked pigmentary retinopathy (P.R.).
The silently affected female relatives of a patient severely affected by pigmentary retinopathy may show on ophthalmoscopy a sector with pigmentary retinopathy and disturbed functional examinations; the risk factors to suggest X linked disease are described. In our case the mother appeared a heterozygote for sex linked P.R.
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012306:Risk; D012729:Sex Chromosome Aberrations; D014792:Visual Acuity; D014960:X Chromosome