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Article

Mutations in LRPAP1 are associated with severe myopia in humans.

American journal of human genetics - 8 Aug 2013

Aldahmesh Mohammed A, Khan Arif O, Alkuraya Hisham, Adly Nouran, Anazi Shamsa, Al-Saleh Ahmed A, Mohamed Jawahir Y, Hijazi Hadia, Prabakaran Sarita, Tacke Marlene, Al-Khrashi Abdullah, Hashem Mais, Reinheckel Thomas, Assiri Abdullah, Alkuraya Fowzan S

Abstract excerpt

Myopia is an extremely common eye disorder but the pathogenesis of its isolated form, which accounts for the overwhelming majority of cases, remains poorly understood. There is strong evidence for genetic predisposition to myopia, but determining myopia genetic risk factors has been difficult to achieve. We have identified Mendelian forms of myopia in four consanguineous families and implemented exome/autozygome...

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Source

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Identifiers

PMID: 23830514
DOI: 10.1016/j.ajhg.2013.06.002
PMCID: PMC3738831

Genes

LRPAP1
CTSH
LRP1

Provenance

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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