Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"

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Clinical, Molecular and Diagnostic Considerations in Familial and Sporadic Retinal Dystrophies

Berger W.
Abt. Medizin. Molekulargenetik, Institut für Medizinische Genetik, Zürich/CH

Hereditary forms of blindness are due to mutations in genes with important functions in different ocular structures, e.g. cornea, lens, trabecular meshwork, choroid and retina. Premature photoreceptor cell death in the retina can cause severe visual handicaps and can lead to complete blindness in affected patients. Retinal dystrophies account for 5-10% of cureless blindness in the Caucasian population and represent a prime example for genetic and allelic heterogeneity. More than 120 human retinal disease genes have been mapped genetically. So far, mutation analyses revealed pathogenic sequence alterations in more than 80 genes. The disease spectrum includes retinitis pigmentosa (RP), various forms of macular degeneration, and Lebers congenital amaurosis (LCA). Strikingly, mutations in one gene can lead to RP but also macular degeneration (allelic heterogeneity). On the other hand, in RP, the clinical outcome of different gene defects is rather uniform and disease symptoms do not allow classifying different genetic subtypes. This tremendous genetic heterogeneity is the reason why molecular genetic testing can not be offered on a routine basis at present and development of novel, high throughput mutation detection techniques is required. Defects in genes encoding components of the phototransduction cascade in photoreceptor cells have been characterized in much detail on the molecular level. Mutations in rhodopsin

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