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Article

Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.

Ophthalmic genetics - 1 Mar 2015

Khan Arif O, Aldahmesh Mohammed A, Alsharif Hadeel, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: To uncover the homozygous recessive gene mutation underlying familial lens subluxation and/or juvenile lens opacities in four sisters from a consanguineous family. METHODS: Prospective family study (clinical phenotyping; homozygosity-analysis-guided candidate gene testing). RESULTS: The proband was a 14-year-old girl with long-standing poor vision, bilateral temporal lens subluxation, lens opacities, and...

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PMID: 25469533
DOI: 10.3109/13816810.2014.985847

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

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