Purpose: Alport's Syndrome is characterized by hereditary nephritis, usually associated with neurosensitve deafness (Alport, 1927) and ocular disease (Sohar, 1954). Thus we intended to analize manifestations of the syndrome in a family, regarding clinical and genetical aspects. Patients and method: Fifteen patients of the same family of which four had Alport´s syndrome were submitted to ophthalmologic examination. The examinations were performed at the Ophthalmologic Clinic of HGV/UFPI. Results: Four patients with Alport´s syndrome were revealed, of which three had moderate deafness, anterior lenticonus and chronic nephropathy, and one of them had renal disease alone. All the patients were white, male aged 12 to 25 years. The visual acuity of eyes with lenticonus varied between 20/50 and 20/100. Conclusions: The family analysis identified three confirmed cases and a suspected one, sugesting a pattern of X-linked recessive inheritance, and it was not possible to exclude autosomal dominant inheritance with incomplete penetrance.
Alport's syndrome; Lenticonus
