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Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank


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 Statement

Copyright 2012 The Authors

DOI: doi:10.1111/ceo.12020


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.

Item Details

Item Type:Refereed Article
Keywords:choroideraemia, Leber congenital amaurosis, retinitis pigmentosa, Stargardt disease, Usher syndrome
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:95087
Year Published:2013
Web of Science® Times Cited:30
Deposited By:Medicine
Deposited On:2014-09-24
Last Modified:2014-11-06

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