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      RETINOSIS PIGMENTARIA: CLÍNICA, GENÉTICA Y EPIDEMIOLOGÍA EN ESTUDIO DE FAMILIAS HABANERAS Translated title: The clinical, genetical and epidemiological characteristics of Retinitis Pigmentosa in families of Havana City

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          Abstract

          Se realiza una investigación descriptiva, retrospectiva y transversal con el objetivo de conocer los resultados de la pesquisa, clasificación y abordaje multidisciplinario de la retinosis pigmentaria (RP) en Ciudad de La Habana en los años 2006-2007. Se analizan las historias clínicas y encuestas individualesde cada paciente así como las fichas y árboles genealógicos de sus familias diseñadas por el Programa Nacional de Retinosis Pigmentariapara establecer las características clínicas, genéticas y epidemiológicas de la RP en ellos. Se hace el resumen porcentual de los resultados que se muestran en gráficos.

          Translated abstract

          We have made a descriptive, transversal investigation. The purpose is to know the results of the quest, classification, and multidisciplinary approach of retinitis pigmentosa in HavanaCity from 2006 to 2007.The individual files are revised as well as their charts and genealogic trees; all revisions were designed by The National Program of Retinitis Pigmentosa, to establish the clinical, genetical and epidemiological characteristics of Retinitis Pigmentosa in them. The perceptual resume is made out of the results showed in graphics.

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          Most cited references 15

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          Oftalmología Clínica

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            Clinical and genetic heterogeneity in retinitis pigmentosa.

            The clinical course of defective vision and blindness has been investigated in relation to different modes of genetic transmission in a large series of 93 families with retinitis pigmentosa (RP). For autosomal dominant RP, two clinical subtypes could be distinguished according to the delay in macular involvement. In the severe form, macular involvement occurred within 10 years, while in the mild form, macular involvement occurred after 20 years. Interestingly, a significant increase of mean paternal age (38.8 years, mean controls in France = 29.1 years, P less than 0.001) was found in this form of RP, a feature which is suggestive of new mutations. For autosomal recessive RP, four significantly different clinical subtypes could be recognized, according to both age of onset and the pattern of development (P less than 0.001), namely cone-rod dystrophy and early-onset severe forms on the one hand (mean age of onset = 7.6 years), late-onset mild forms and senile forms on the other. Similarly, two significantly different clinical subtypes could be recognized in X-linked RP, according to both mode and age of onset, which were either myopia (mean age = 3.5 +/- 0.5 years) or night blindness (mean age = 10.6 +/- 4.1 years. P less than 0.001). By contrast, no difference was noted regarding the clinical course of the disease, which was remarkably severe whatever the clinical subtype (blindness before 25 years). In addition, all obligate carriers in our series were found to have either severe myopia or pigment deposits in their peripheral retina. Finally, sporadic RP represented the majority of cases in our series (42%). There was a considerable heterogeneity in this group, and at least three clinical forms could be recognized, namely cone-rod dystrophy, early onset-severe forms and late onset moderate forms. At the beginning of the disease, the hereditary nature of the sporadic forms was very difficult to ascertain (especially between 7-10 years) and only the clinical course could possibly provide information regarding the mode of inheritance. However, the high level of consanguinity, and the high sex ratio in early onset and severe sporadic forms (including cone-rod dystrophy), was suggestive of an autosomal or X-linked recessive inheritance, while increased paternal age in late onset forms was suggestive of autosomal dominant mutations.
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              Oftalmología general

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                Author and article information

                Contributors
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Role: ND
                Journal
                rhcm
                Revista Habanera de Ciencias Médicas
                Rev haban cienc méd
                Universidad de Ciencias Médicas de la Habana (La Habana )
                1729-519X
                March 2008
                : 7
                : 1
                : 0
                Affiliations
                [1 ] Centro de Referencia Nacional de Retinosis Pigmentaria. (CRNRP)
                Article
                S1729-519X2008000100016
                Product
                Product Information: website
                Categories
                HEALTH CARE SCIENCES & SERVICES

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