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Article

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.

Molecular vision - 1 Jan 2011

Khan Arif O, Aldahmesh Mohammed A, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: To clinically and genetically characterize a distinct phenotype of congenital megalocornea (horizontal corneal diameter ≥13 mm) with secondary glaucoma from spherophakia and/or ectopia lentis during childhood in affected Saudi families. METHODS: Clinical exam, homozygosity scan, and candidate gene analysis. RESULTS: From 2005 to 2010, eight affected individuals from three consanguineous families were...

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Identifiers

PMID: 22025892
PMCID: PMC3198484

Genes

LTBP2

Variants

Provenance

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