RETINITIS-PIGMENTOSA - CLINICAL ASPECTS, MOLECULAR-GENETIC FINDINGS AND PATHOPHYSIOLOGICAL MECHANISMS

Retinitis pigmentosa defines a genetically heterogenous group of disor ders characterized by degenerations of photoreceptors and pigment epit helium. This article reviews our current knowledge of the genetical, c linical and pathophysiological aspects of this disease complex. Therap eutic concepts under current investigation are discussed as well. In r ecent years tremendous new insights have been made using molecular tec hniques for the investigation of retinal dystrophies. Ophthalmoscopica lly very similar patterns of photoreceptor dystrophies have been relat ed to different gene mutations. In contrast, mutations in a single gen e may cause different clinical patterns of photoreceptor dystrophies. Therefore, these recent results suggest that a reclassification of ret inal dystrophies on the basis of their genetic origin may be favourabl e. In the future molecular genetics and the recent developments map pl ay an increasing role for clinical classification and evaluation of ph otoreceptor dystrophies. The continued clinical and experimental resea rch on hereditary disorders may help to elucidate further the wide dis ease spectrum and thereby developing new classifications and efficient therapeutic concepts.