Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 3 de 3
Filtrar
Mais filtros

Base de dados
Tipo de documento
Intervalo de ano de publicação
1.
Can J Ophthalmol ; 13(1): 1-9, 1978 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-305814

RESUMO

A survey of 40 individuals registered with the Canadian National Institute for the Blind (CNIB) as blind from congenital nystagmus revealed that an abnormal single gene was responsible for the disorder in 33 patients. Fifteen of these were due to autosomal recessive conditions while X-linked disorders accounted for another 15 patients. In 3 cases the pedigrees were consistent with both autosomal recessive or X-linked inheritance. A clearly defined environmental origin was present in 1 case while specific genetic or environmental factors were not detected in the remaining six patients. The albinism, achromatopsia and Leber's congenital amaurosis groups of disorders were those most frequently detected.


Assuntos
Cegueira/congênito , Nistagmo Patológico/congênito , Adolescente , Albinismo/congênito , Traumatismos do Nascimento/complicações , Cegueira/genética , Criança , Defeitos da Visão Cromática/congênito , Feminino , Genes Recessivos , Ligação Genética , Humanos , Nistagmo Patológico/genética , Atrofia Óptica/complicações , Doenças Retinianas/congênito , Cromossomo X
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA