Abstract

RANGEL FLEITES, Rubén; TABOADA LUGO, Noel  and  MEMBRIDES PEREZ, Gladys. Clinical and genetical heterogeneity of retinitis pigmentosa: Importance of the family study and of early treatment. Apropos of a family. Rev Cubana Oftalmol [online]. 2004, vol.17, n.2, pp. 0-0. ISSN 1561-3070.

It is known the genetical heterogeneity of retinitis pigmentosa considered by different authors as a group of hereditary diseases resulting from different mutations that are transmitted by different Mendelian patterns of inheritance that are generally manifested by a clinical picture that is similar in its fundamental characteristics. Its heterogeneity is also remarkable from the clinical point of view, since different genotypes correspond to various phenotypes, but even among the individuals affected with the same mutation the differences existing in dissimilar clinical aspects of the disease may be manifested. That's why, the investigators devoted to its study recognize that it is indispensable to conduct a family study to have a correct diagnosis, mainly from the genetical point of view. A family initially classified as affected by recessive autosomal typical retinitis pigmentosa that after the cascade clinical family screening was reclassified as dominant autosomal inheritance, was presented. The importance of the in-depth family study and of the early surgical treatment was evidenced.

Keywords : Genetical heterogeneity [retinosis]; pigmentosa; family study [diagnosis]; treatment; surgery.