Competing/conflicts of interest: No stated conflict of interest.
Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank
Article first published online: 10 DEC 2012
© 2012 The Authors. Clinical and Experimental Ophthalmology © 2012 Royal Australian and New Zealand College of Ophthalmologists
Clinical & Experimental Ophthalmology
Volume 41, Issue 5, pages 476–483, July 2013
How to Cite
De Roach, J. N., McLaren, T. L., Paterson, R. L., O'Brien, E. C., Hoffmann, L., Mackey, D. A., Hewitt, A. W. and Lamey, T. M. (2013), Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank. Clinical & Experimental Ophthalmology, 41: 476–483. doi: 10.1111/ceo.12020
Funding sources: Retina Australia, Retina Australia (WA) and Retina Australia (SA) funded the development of the Australian Inherited Retinal Disease Register and DNA Bank. The authors gratefully acknowledge the assistance of the Western Australian DNA Bank, which was supported by a National Health and Medical Research Council (NHMRC) Enabling Facility Grant. AWH is supported by NHMRC Early Career Fellowship. Ongoing support is also provided by the Centre for Research Excellence Grant for Translation of Genetic Eye Research from the NHMRC.
- Issue published online: 25 JUN 2013
- Article first published online: 10 DEC 2012
- Accepted manuscript online: 19 OCT 2012 06:25AM EST
- Manuscript Accepted: 27 SEP 2012
- Manuscript Received: 10 JUN 2012
- Retina Australia
- Retina Australia (WA)
- Retina Australia (SA)
- National Health and Medical Research Council (NHMRC) Enabling Facility Grant
- Leber congenital amaurosis;
- retinitis pigmentosa;
- Stargardt disease;
- Usher syndrome.
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.
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.
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).
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.
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.
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.