De Roach, JN and Mclaren, TL and Paterson, RL and O'Brien, EC and Hoffmann, L and Mackey, DA and Hewitt, AW and Lamey, TM, Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank, Clinical and Experimental Ophthalmology, 41, (5) pp. 476-483. ISSN 1442-6404 (2013) [Refereed Article]
Copyright 2012 The Authors
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.
|Item Type:||Refereed Article|
|Keywords:||choroideraemia, Leber congenital amaurosis, retinitis pigmentosa, Stargardt disease, Usher syndrome|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|Author:||Mackey, DA (Professor David Mackey)|
|Author:||Hewitt, AW (Professor Alex Hewitt)|
|Web of Science® Times Cited:||5|
|Deposited By:||Medicine (Discipline)|
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