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Revista de Ciencias Médicas de Pinar del Río

On-line version ISSN 1561-3194

Abstract

RODRIGUEZ GARCIA, Nercy; MORENO DOMINGUEZ, José Carlos; ACOSTA RODRIGUEZ, Felipe  and  MENENDEZ GARCIA, Reinaldo. Clinical and genetic heterogeneity in retinitis pigmentosa patients in Pinar del Río. Importance of genetic counselling. Rev Ciencias Médicas [online]. 2013, vol.17, n.6, pp.122-129. ISSN 1561-3194.

Introduction: retinitis pigmentosa (RP) is a progressive, chronic and hereditary retinal degeneration, leading to blindness or visual disabilities without proper treatment. Objective: to determine the variability of clinical expression in retinosis pigmentosa, and also the type of heredity by which it is transmitted to sick people and the family of inpatients at the province service of the disease in Pinar del Río, which will allow to implement a strategy for individual and family genetic counselling. Material and method: a descriptive, retrospective, cross-sectional research was made, having as target group and sample 259 patients diagnosed with the disease, registered in the province service, from January to September 2012. Results: male patients (154) and ages 40-49 years old (46.71%) predominated. According to the Cuban classification, early onset, stage one, autosomal recessive heredity, and the typical way of presentation prevailed. Usher syndrome stands out as an associated entity. It has been determined that the disease follows an autosomal recessive hereditary pattern, in 99 families, out of which consanguinity exists in 38. The limitations of these sick patients force to provide them with proper and precise information by means of genetic counselling services. Conclusions: the huge clinical and genetic heterogeneity of the disease has caused the genetic advice strategy to include the personalization of the process in accordance with each patient and family and the attachment of greater importance to the groups of mutual support.

Keywords : Retinitis pigmentosa; Heredity; Blindness.

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