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MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.

Clinical genetics - 1 Oct 2023

Jedlickova Jana, Vajter Marie, Barta Tomas, Black Graeme C M, Perveen Rahat, Mares Jan, Fichtl Marek, Kousal Bohdan, Dudakova Lubica, Liskova Petra

Abstract excerpt

Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature...

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PMID: 37321975
DOI: 10.1111/cge.14391

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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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