[Exudative retinopathy with dominant transmission. Report of a new pedigree].
A family with the syndrome of familial exudative vitreoretinopathy is described. A 7-year-old presented a non-perfused, avascular periphery in the temporal retina. The father is blind and his fundus was described in childhood as showing vitreoretinal traction, retinal telangectasia and temporal fibrotic changes. A cousin of our patient, a 5-year-old girl, was seen with vitreoretinal traction of the posterior pole. Familial exudative vitreoretinopathy is sometimes confused with retrolental fibroplasia. The family history and a fluorescein angiographic study of non-affected members are useful for confirmation of this diagnosis: pathophysiologic mechanisms and optimal treatment of the disease still remain about discussion.
Saraux
H
H
Laroche
L
L
Koenig
F
F
D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D007511:Ischemia / Q000175:diagnosis; D008297:Male; D009389:Neovascularization, Pathologic; D010375:Pedigree; D012163:Retinal Detachment / Q000209:etiology; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D012171:Retinal Vessels / Q000473:pathology; D012178:Retinopathy of Prematurity / Q000175:diagnosis; D014822:Vitreous Body
Rétinopathie exsudative à transmission dominante. Présentation d'un nouveau pedigree.