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Article

Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome.

Ophthalmic genetics - 1 Feb 2024

Mc Lean Keri, Bignotti Stefano, Callea Michele, Cammarata-Scalisi Francisco, Steger Bernhard, Armstrong David, Lagan Maeve, Sinton Janet, Semeraro Francesco, Kaye Stephen B, Romano Vito, Willoughby Colin E

Abstract excerpt

BACKGROUND: To report ocular manifestations, clinical course, and therapeutic management of patients with molecular genetically confirmed keratitis-ichthyosis-deafness syndrome. METHODS: Four patients, aged 19 to 46, with keratitis-ichthyosis-deafness syndrome from across the UK were recruited for a general and ocular examination and GJB2 (Cx26) mutational analysis. The ocular examination included best-corrected...

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Identifiers

PMID: 37755702
DOI: 10.1080/13816810.2023.2258218

Genes

GJB2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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