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ISSN 2070-8718 (Print)

2017, Number 3

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Rev Cub Gen 2017; 11 (3)

Clinical-genetic and psychosocial study of families with blindness of the Kalandula municipality, Malange province, Angola, 2014

Rojas BIA, Rodríguez LE, Simões OPR, Chagas PF

Language: Spanish
References: 23
Page: 38-45
PDF size: 436.44 Kb.


ABSTRACT

Congenital functional and structural alterations of the eyes appear from embryonic and fetal development evidencing at birth, and visual defects produced by these anomalies can lead to total or partial blindness. The existence of several persons with blindness belonging to the same family was known in the Santo António Commune, Kalandula municipality of Malange province, Angola. The aim of this investigation was to contribute to the prevention of disability through Genetic Counseling in affected families. A case series study was carried out for the clinical, genetic and psychosocial diagnosis of families with blindness, which included the design of a clinical history model and the creation of a multidisciplinary group. The strategy developed for the study of people with disabilities in Cuba and other countries was taken as a reference. The psychosocial, pedagogical and clinical - genetic study of the known family (Family 1) and of another family found in the course of the investigation was carried out, this one from the Ginga Luamba commune (Family 2), both with several affected members of blindness. The genetic clinical diagnosis of the cases was reached and the diseases found in both families were classified as blind, with a monogenic genetic cause. Through the application of the clinical method, an initial diagnosis was established for both families, offering genetic counseling and psychosocial support.


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