| Retinal degeneration is the most common cause of irreversible visual loss in the developed world. Age-related macular degeneration, macular dystrophy, retinitis pigmentosa and allied diseases are major causes of retinal degeneration. Much progress has been made in identifying disease genes and understanding the underlying pathogenic mechanisms. I will summarize the current status of the field and describe our effort to investigate genetic defect and pathogenetic mechanisms for retinal degeneration.
To date, over 160 genes causing retinal degeneration have been identified. The goal of our research program is to identify novel, key genes and pathways involved in retinal degeneration using genetic linkage and positional cloning approaches. As a first step, we have collected 2000 families with over 5000 patients with retinal degeneration. Then we undertook a whole genome-scan approach to map novel loci. As the next step, a positional candidate strategy is employed for identification of novel genes, we have identified ELOVL4 for dominant Stargardt macular dystrophy (STGD3), RPGR for X-linked cone dystrophy, LRP5 for familial exudative vitreoretinopathy, Carbonic anhydrase 4 (CA4) for autosomal dominant RP.
Since the mechanism of pathogenesis of many retinal diseases is largely unknown, identification of genes for these conditions will expand our understanding for this devastating blindness and contribute new information on the function of the normal genes and their protein products in the pathways involving macular health and disease. The cloning of disease-causing gene(s) and the determination of the function of the protein they encodes, will yield important insights into the mechanisms of its pathogenesis, and allow the design of effective presymptomatic diagnostic tools, and promote development of novel treatment strategies. In addition, a large cohort of retinal degeneration patients with known underlying genotypes will be a invaluable resource for clinical trials/therapies.
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