Genetic Testing for Inherited Non Age-Related Macular Degeneration

 

Jose S. Pulido, M.D., Professor of Ophthalmology & Molecular Medicine, Mayo Clinic College of Medicine and Alan D. Marmorstein, Ph.D., Professor of Ophthalmology, Mayo Clinic College of Medicine discuss the importance of genetic testing in diagnosing macular degeneration.

Three cases are outlined that have been referred to as Adult Onset Foveomacular Dystrophy, Macular Degeneration, and Best Disease. Genetic testing can be used to make these diagnoses and researchers are at the threshold of new and exciting treatments. Over the past few years Dr. Marmorstein’s laboratory has been involved in a study of stem cell models of Best Disease and other retinal degenerative diseases. Details can be found on the NIH web site. DNA is being collected along with skin fibroblasts from patients with Best Disease Adult Vitelliform Dystrophy Autosomal Recessive Bestrophinopathy, autosomal dominant vitreoretinal choroidopathy, and retinitis pigmentosa  due to mutations in BEST1.

The skin fibroblasts are being reprogrammed into induced pluripotent stem cells which can be differentiated into retinal pigment epithelial cells. This is the cell where Bestrophin, the product of the BEST1 gene is expressed and that’s where the pathogenic problem that results in these diseases occurs. Clinical trials are already underway using iPS cell derived retinal pigment epithelial cells for the treatment of age-related Macular Degeneration.

It also allows the consideration of the same process to therapeutically treat Best Disease and Adult Vitelliform Macular Dystrophy, Autosomal Recessive Bestrophinopathy and models of the diseases can be generated of the diseases in the laboratory. This can help with the understanding of the processes that cause the disease and allow for the testing of potential therapeutic compounds to determine if they have an effect on these specific patients.

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