[Gyrate atrophy of the choroid and retina: a case report].
BACKGROUND
Gyrate atrophy of the retina and choroid is a rare disease, with recessive autosomal transmission, characterized by progressive chorioretinal atrophy causing blindness. It results from a congenital deficit in aminotransferase ornithine.


METHODS
The authors present the case of a young patient aged 15 years old consulting for a progressive fall of visual acuity with hemeralopia. Eye funduscopy showed regions of confluent rounded chorioretinal atrophy. The visual field, the electroretinogram and the retinal angiography were all alterated. Gyrate atrophy of the retina and choroid was evocated.


CONCLUSIONS
It is a systemic and rare metabolic disease where ocular features are dominating. Differencial diagnosis are pigmentary retinopathies. Cataract and/or myopia are often joined to the retinal lesions. General signs could consist in muscular weakness, thin and rare hairs and mental retardation. More than; visual fields, electroretinogram, retinal angiography 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.
Lahbil
D
D
Service d'Ophtalmologie, Hôpital 20 Août 1953, Casablanca, Maroc.
Hamdani
M
M
D'khissy
M
M
El Belhadji
M
M
Rachid
R
R
Laouissi
N
N
Zaghloul
K
K
Amraoui
A
A
D000293:Adolescent; D002829:Choroid / Q000473:pathology; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D015799:Gyrate Atrophy / Q000175:diagnosis* / Q000503:physiopathology* / Q000628:therapy; D006801:Humans; D012160:Retina / Q000473:pathology; D014794:Visual Fields