Novel Genes Involved In Etiopathogenesis Of Retinitis Pigmentosa Orphan Forms

Luigi Donato, Rita Lauro, Concetta Scimone, Rosalia D’Angelo, Alessandra Costa, Alessandro Calamuneri, Antonina Sidoti

Abstract

Retinitis Pigmentosa is a rare genetic disease affecting the retina, characterized by the progressive degeneration of rods and cones photoreceptors. The disease is considered one of the main causes of visual impairment and blindness, affecting from 1/9000 to 1/750 people according to their geographical localization. More than 80 genes have been described as causative of Retinitis Pigmentosa, even if there are the so called “orphan forms” showing the same phenotipic condition of RP patients, in the absence of mutations in the already known causative genes. Since RP is a very heterogeneous disorder, it is important to clarify the possible involvement of other genes and their eventual role in the etiopathogenesis of RP orphan forms.

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