OPHTHALMOLOGIC DIAGNOSIS IN FAMILIAL NEPH ROPATHY - ABOUT 10 CASES

The authors reported ten cases of familial nephropathy (two cystinosis , three Senior and Loken syndrome, one Alport's syndrome and four Oxal osis) associated to ocular manifestations. Aetiologic diagnosis was kn own from ocular symptoms in five cases (all cases of cystinosis and Se nior and Loken syndrome). The authors undertook this study to analyse the value of ocular manifestations in determining the right aetiologic diagnosis in familial nephropathies. The results of this study showed that ocular manifestations are helpful for aetiologic diagnosis in th e first diseases. Indeed, corneal injury is synonym of cystinosis and retinitis pigmentosa is usually associated with Senior and Loken syndr ome. In Alport's syndrome, ocular manifestations: anterior lenticonus cataractous and perimacular white points only have orientation value i n the diagnosis of this disease. Oxalosis ocular manifestations which consist of retinal oxalate deposits appear late and are concomitant to familial renal insufficiency. They cannot help in the diagnostic sear ch.