[A case of choroideremia].
The authors describe a case of choroideremia. Discussion is upon clinical and evolutive data, others diagnosis, pigmentary retinopathy or rubeolic retinopathy at the beginning of the disease, diffuse chorio capillary atrophy, gyrate atrophy of the choroid and retina. Biomicroscopic finding of heterozygous females (the mother and his sister) are described. Genetic council is those of recessive X linked hereditary with the possibility of prenatal diagnosis using genic marker.
Moyenin
P
P
Votan-Bonamour
B
B
Baudet-Giunta
B
B
D000328:Adult; D015794:Choroideremia / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D009887:Ophthalmoscopy; D013997:Time Factors
A propos d'un cas de choroidérémie.