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  • Title: [Contribution of an ophthalmologic test to the diagnosis of familial nephropathies. Apropos of 10 cases].
    Author: Marrakchi S, Lasram L, Bouguila H, Barbirou I, Ouertani A, Ayed S.
    Journal: J Fr Ophtalmol; 1994; 17(4):238-41. PubMed ID: 8089404.
    Abstract:
    The authors reported ten cases of familial nephropathy (two cystinosis, three Senior and Loken syndrome, one Alport's syndrome and four Oxalosis) associated to ocular manifestations. Aetiologic diagnosis was known from ocular symptoms in five cases (all cases of cystinosis and Senior 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 the first diseases. Indeed, corneal injury is synonym of cystinosis and retinitis pigmentosa is usually associated with Senior and Loken syndrome. In Alport's syndrome, ocular manifestations: antcrior lenticonus cataractous and perimacular white points only have orientation value in 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 search.
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