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Article

Congenital glaucoma and CYP1B1: an old story revisited.

Human genetics - 1 Sept 2019

Alsaif Hessa S, Khan Arif O, Patel Nisha, Alkuraya Hisham, Hashem Mais, Abdulwahab Firdous, Ibrahim Niema, Aldahmesh Mohammed A, Alkuraya Fowzan S

Abstract excerpt

Primary congenital glaucoma is a trabecular meshwork dysgenesis with resultant increased intraocular pressure and ocular damage. CYP1B1 mutations remain the most common identifiable genetic cause. However, important questions about the penetrance of CYP1B1-related congenital glaucoma remain unanswered. Furthermore, mutations in other genes have been described although their exact contribution and potential...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29556725
DOI: 10.1007/s00439-018-1878-z

Genes

BCO2
CPAMD8
DGKQ
KERA
LTBP2
MYOC
TEK
TULP2

Variants

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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