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Establishment and evolution of the A ustralian I nherited R etinal D isease R egister and DNA B ank
Author(s) -
De Roach John N,
McLaren Terri L,
Paterson Rachel L,
O'Brien Emily C,
Hoffmann Ling,
Mackey David A,
Hewitt Alex W,
Lamey Tina M
Publication year - 2013
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/ceo.12020
Subject(s) - medicine , proband , macular degeneration , disease , retinitis pigmentosa , family medicine , genetics , retinal , ophthalmology , mutation , pathology , gene , biology
Background Inherited retinal disease represents a significant cause of blindness and visual morbidity worldwide. With the development of emerging molecular technologies, accessible and well‐governed repositories of data characterising inherited retinal disease patients is becoming increasingly important. This manuscript introduces such a repository. Design Participants were recruited from the Retina Australia membership, through the Royal Australian and New Zealand College of Ophthalmologists, and by recruitment of suitable patients attending the Sir Charles Gairdner Hospital visual electrophysiology clinic. Participants Four thousand one hundred ninety‐three participants were recruited. All participants were members of families in which the proband was diagnosed with an inherited retinal disease (excluding age‐related macular degeneration). Methods Clinical and family information was collected by interview with the participant and by examination of medical records. In 2001, we began collecting DNA from Western Australian participants. In 2009 this activity was extended Australia‐wide. Genetic analysis results were stored in the register as they were obtained. Main Outcome Measures The main outcome measurement was the number of DNA samples (with associated phenotypic information) collected from Australian inherited retinal disease‐affected families. Results DNA was obtained from 2873 participants. Retinitis pigmentosa, Stargardt disease and Usher syndrome participants comprised 61.0%, 9.9% and 6.4% of the register, respectively. Conclusions This resource is a valuable tool for investigating the aetiology of inherited retinal diseases. As new molecular technologies are translated into clinical applications, this well‐governed repository of clinical and genetic information will become increasingly relevant for tasks such as identifying candidates for gene‐specific clinical trials.