Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.

ABSTRACT:

Background

Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently leading to legal blindness. These two groups of pathologies are highly heterogeneous and require combined clinical and molecular diagnoses to be securely identified. Exact epidemiological studies are lacking in North Africa, and genetic studies of IRD and ION individuals are often limited to case reports or to some families that migrated to the rest of the world. In order to improve the knowledge of their clinical and genetic spectrums in North Africa, we reviewed published data, to illustrate the most prevalent pathologies, genes and mutations encountered in this geographical region, extending from Morocco to Egypt, comprising 200 m

SUBMITTER: Bouzidi A 

PROVIDER: S-EPMC9097391 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature