Retinal Dystrophy Gene Atlas

Classically, photo atlases of retinal dystrophieshave been divided into sections thatdescribe and depict a particular retinal findingor disease, after which a differential diagnosisof potential diseases or mutated genesis provided. However, given the rapidimprovement in molecular diagnostics,and the exponentialincrease in our understanding of the phenotypescaused by each mutated gene, the paradigmhas changed. Physicians are nowmore interested in the variable expressivity associated with mutations in each individualgene. Therefore,Retinal Dystrophy GeneAtlascatalogs the different phenotypes thathave been reported with each mutated gene. Eachsection describes a gene and its knownclinical phenotypes and features of disease,along with retinal photos of affected patients. Written by prominent retinaldystrophy specialists from the largestdystrophy centers worldwide,Retinal DystrophyGene Atlascontains more than 80chapters, each of which describes the clinicaland photographic manifestations of a specificgene. The chapters includestunning clinical color photographs of theretina, autofluorescence imaging, electrophysiologicfindings, and cross-sectionalimaging.Retinal Dystrophy Gene Atlasserves as a resource to aid genetic diagnosisin patients with retinaldystrophies.