RESUMO
Leber congenital amaurosis (LCA) encompasses a group of severe inherited retinal dystrophies (IRDs) responsible for early childhood blindness. There are currently 25 genes implicated in the pathogenesis of these diseases, and identification of disease-causing variants will be required for personalised therapies. Whole exome and whole genome sequencing is informative for detecting novel disease-causing genes, whilst next-generation sequencing has excelled at detecting novel variants in known disease-causing genes.A global effort will be required to identify patient populations for early intervention. At the Australian Inherited Retinal Disease Registry and DNA Bank, we seek to identify genetic variants in individuals with IRDs in the Australian population to identify potential candidates for clinical trials, to inform clinical management of patients including reproductive options and to expand existing knowledge of IRDs.Due to the diversity of genes implicated, personalised strategies are likely to be the benchmark for treating these diseases, and a combined approach of different therapies may be optimal in treating some of these diseases.
Assuntos
Amaurose Congênita de Leber/genética , Medicina de Precisão , Aciltransferases/genética , Antígenos de Neoplasias/genética , Austrália/epidemiologia , Proteínas de Ciclo Celular , Proteínas do Citoesqueleto , Análise Mutacional de DNA , Heterogeneidade Genética , Terapia Genética , Vetores Genéticos/uso terapêutico , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Amaurose Congênita de Leber/epidemiologia , Amaurose Congênita de Leber/terapia , Terapia de Alvo Molecular , Proteínas de Neoplasias/genética , Sistema de Registros , Sequenciamento do Exoma , Sequenciamento Completo do Genoma , cis-trans-Isomerases/genéticaRESUMO
This paper describes the main elements of the Western Australian retinitis pigmentosa register including details of the data stored on the register, aspects of the coding systems used and some description of the tests employed in diagnosis of retinitis pigmentosa. The register is family based and contains data on affected individuals and on their unaffected relatives. As at November 1991, the register contained data for 391 individuals from 207 separate families. Of the 391 individuals, 240 had definite or probable retinitis pigmentosa and 26 were possibly affected. The remainder were unaffected family members. In many cases, both affected and unaffected family members are being studied serially and the register is designed to store and easily retrieve serial data to allow study of disease progression for individuals and within families.
