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Article

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.

The British journal of ophthalmology - 1 Dec 2014

El-Haig Wael M, Jakobsson Cecilia, Favez Tatiana, Schorderet Daniel F, Abouzeid Hana

Abstract excerpt

OBJECTIVE: To genetically and phenotypically describe a new ADAM9 homozygous mutation in a consanguineous family from Egypt with autosomal recessive cone-rod dystrophy (arCRD), anterior polar and posterior subcapsular cataract. DESIGN, SETTING AND PARTICIPANTS: The parents and their six children were included. They underwent a complete ophthalmic examination with fundus photography and optical coherence...

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Identifiers

PMID: 25091951
DOI: 10.1136/bjophthalmol-2014-305231

Genes

ADAM9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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