[Ophthalmological manifestations of infantile Refsum's disease: apropos of 3 cases].
We describe the ophthalmic manifestations of 3 cases of infantile Refsum's disease. The gravity and the aspect of the retinal disorders which we have observed by ophthalmoscopy and electroretinography were quite different from one case to another, including two siblings. We then go on to discuss the pathogeny and the genetic basis of diseases due to a deficiency of the peroxisomal biogenesis.
Van der Maren
V
V
Service d'Ophtalmologie, Hôpital Erasme, Bruxelles.
Cordonnier
M
M
Van Maldergem
L
L
Van Nechel
C
C
D000293:Adolescent; D000328:Adult; D002648:Child; D004596:Electroretinography; D005128:Eye Diseases / Q000175:diagnosis* / Q000503:physiopathology; D005133:Eye Movements; D005260:Female; D006801:Humans; D008297:Male; D009887:Ophthalmoscopy; D012035:Refsum Disease / Q000150:complications* / Q000503:physiopathology