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Article

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

Orphanet journal of rare diseases - 12 May 2022

Bouzidi Aymane, Charoute Hicham, Charif Majida, Amalou Ghita, Kandil Mostafa, Barakat Abdelhamid, Lenaers Guy

Abstract excerpt

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...

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Identifiers

PMID: 35551639
DOI: 10.1186/s13023-022-02340-7
PMCID: PMC9097391

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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