PURPOSE: To organize a regional data bank of all individuals that have retinal degenerative diseases, with the aim to classify each patient according to the type of distrophy and pattern of inheritance. METHODS: During the meeting of the São Paulo Retina Group on May 5th, 2001, two hundred and forty-three persons were registered, part of whom provided information concerning ocular, personal and family history and family tree. Ninety-three patients were asked about age, origin, type of dystrophy, family history and family tree information, type of inheritance, other systemic abnormalities and complementary examination. They were classified according to the diagnosis and pattern of inhe-ritance. RESULTS: The distrophies found in the registered two hundred and forty-three patients, were: retinitis pigmentosa, Stargardt disease, Usher syndrome, Leber congenital amaurosis and choroideremia. Of the ninety-three patients examined on the same day, sixty-two had retinitis pigmentosa, thirteen had Stargardt disease, thirteen had Usher syndrome, three had Leber congenital amaurosis and two had choroideremia. The inheritance pattern of the patients with retinitis pigmentosa was autosomal dominant in 4 cases (7%), autosomal recessive in twenty cases (32%), X-linked recessive in 7 cases (11%). Twenty-nine cases were isolated (47%) and two had an indeterminate pattern of inheritance (3%). Of the Stargardt disease patients, three (23%) were autosomal recessive and ten (77%) were isolated cases. Of the thirteen patients with Usher syndrome, eight (61.5%) were autosomal recessive, four (31%) were isolated cases and one (7.5%) did not have a determined inheritance pattern. The two patients with choroideremia were X-linked recessive. In Leber congenital amaurosis one (33.5%) was autosomal recessive and two (66.5%) were isolated cases. CONCLUSION: This study highlights the importance of this classification as being the first reference of inheritance patterns of retinal distrophies in our country. This is the first step to further classify the genetic and molecular characteristics based on the sequencing of each gene that causes each inheritance pattern. The frequency of each disease is similar to that of the literature.
Retinal diseases; Retinal degeneration; Retinal degeneration; Retinitis pigmentosa; Retinitis pigmentosa; Choroideremia; Blindness
