Gyrate atrophy of the choroid and retina: a case report

Background: Gyrate atrophy of the retina and choroid is a rare disease, wit h recessive autosomal transmission, characterized by progressive chorioreti nal atrophy causing blindness. It results from a congenital deficit in amin otransferase ornithine. Case report: The authors present the case of a youn g patient aged 15 years old consulting for a progressive fall of visual acu ity with hemeralopia. Eye funduscopy showed regions of confluent rounded ch orioretinal atrophy. The visual field, the electroretinogram and the retina l angiography were all alterated. Gyrate atrophy of the retina and choroid was evocated. Discussion: It is a systemic and rare metabolic disease where ocular features are dominating. Differencial diagnosis are pigmentary reti nopathies. Cataract and/or myopia are often joined to the retinal lesions. General signs could consist in muscular weakness, thin and rare hairs and m ental retardation. More than; visual fields, electroretinogram, retinal ang iography that are alterated; the plasmatic dosage of the ornithine is often high. The treatment is based on the dietetics with uncertain results. The genic therapy would be the treatment of future.