Hereditary Retinal Dystrophies: Current Scientific Knowledge

Abstract

Hereditary retinal dystrophies are a heterogeneous group of inherited diseases characterized by involvement of different layers of the retina, most often the complex retinal pigment epithelium (RPE) – photoreceptors and cause severe visual impairment – loss of night vision, visual field, colour vision and visual acuity in the initial stages and lead to progressive and severe loss of visual function by altering the anatomy and function of the retina. The development of medical science and technology has led to the introduction of new, increasingly sophisticated methods for early diagnosis of these diseases – the electrophysiological studies have become more complex and informative. Together with computer automated perimetry, optical coherence tomography (OCT), angio-OCT, fluorescein angiography (FA), fundus autofluorescence (FAF) and adaptive optics, they allow very accurate topographical localization of the defect. And along with the advances in genetics, optogenetics, molecular biology, retinal biochemistry and regenerative medicine, they provide a better understanding of the mechanism of these diseases and increase the therapeutic opportunities. The treatment of many of these diseases is still problematic, but because most of them are severely disabling the individual, the scientists' efforts are focused on finding an appropriate therapy. For many of these diseases, there are clinical trials worldwide, the results of some of them are quite encouraging, and many effective therapies for these currently incurable diseases are expected to be introduced in the near future. The purpose of this study is to analyze the scientific knowledge, as well as the therapeutic opportunities that are being experimented to date.