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Autosomal dominant retinitis pigmentosa (ADRP): characterization of causative mutations within the population of Europe

Objective



We (partners 01, 02 and 03) have previously localized genes for both X-linked and autosomal dominant retinitis pigmentosa, this group of degenerative eye diseases representing the most prevalent form of hereditary retinopathy and a major cause of visual handicap. Our results initially implicated rhodopsin as a causative gene. Rhodopsin is the rod photoreceptor pigment and the first component of the visual transduction cycle. As a result eight mutations within that gene have now been identified in autosomal dominant forms of the disease. We now seek support for a multidisciplinary, multi-centre effort, involving a coalescence of expertize in the areas of population genetics, molecular biology and clinical ophthalmology for analysis of material from a minimum of four hundred dominant pedigrees of European origin. Our pre-determined objectives are to identify additional mutations within the rhodopsin gene, and to screen for mutations in the rod transducin, cellular retinol binding proteins (I and II) and cyclic-GMP phosphodiesterase genes. These genes are involved either in the transport of retinol, or directly in the rod visual transduction cycle. In view of rhodopsin's demonstrated involvement such genes are prime etiologic candidates for autosomal dominant RP. Genetic linkage studies designed to localize additional causative genes, and already at an advanced stage, will be concluded on three other large dominant pedigrees as a coordinated effort. We thus intend to identify the majority of mutations causing autosomal dominant retinitis pigmentosa within the European population. This work should result in an immediate and radical improvement in diagnosis clinical evaluation and counselling for this most important group of inherited disorders.

Funding Scheme

CSC - Cost-sharing contracts

Coordinator

THE PROVOST, FELLOWS AND SCHOLARS OF THE COLLEGE OF THE HOLY AND UNDIVIDED TRINITY OF QUEEN ELIZABETH NEAR DUBLIN HEREINAFTER TRINITY COLLEGE DUBLIN
Address
Smurfit Institute,trinity College
2 Dublin
Ireland

Participants (3)

Institute of Ophthalmology
United Kingdom
Address
Bath Street
EC1 London
UNIVERSITY OF LUEBECK
Germany
Address
Ratzeburger Allee 160
23538 Luebeck
Universität Hamburg
Germany
Address
Butenfeld 32
22529 Hamburg