Genetic eye diseases are the most frequent cause of blindness in children and adults in the developed world and represent a very heterogeneous group of disorders both from the clinical and the molecular point of view. To date, more than 190 loci causing retinal diseases (RD), such as retinitis pigmentosa (RP), and other neuroretinal inheritable conditions leading to eye diseases have been listed. Molecular genetic studies revealed that mutations in more than 120 chromosomal genes can lead to RD, including RP. Pathogenic mutations were identified in genes that have an important function in photoreceptor cells or adjacent cell layers but also in novel genes isolated by positional cloning. Little is known how mutations in these genes lead to premature cell death in retina and the mechanisms of pathogenesis are poorly understood. The molecular elucidation of RD and genotype/phenotype correlations may serve as a key to understanding the pathogenesis and, perhaps, provide a better tool for use in clinical diagnosis, prognosis, and genetic counselling. Our results strongly suggest the presence of additional unidentified genes that are involved in the pathogenesis of RP.
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