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Article

Brittle cornea syndrome: recognition, molecular diagnosis and management.

Orphanet journal of rare diseases - 4 May 2013

Burkitt Wright Emma M M, Porter Louise F, Spencer Helen L, Clayton-Smith Jill, Au Leon, Munier Francis L, Smithson Sarah, Suri Mohnish, Rohrbach Marianne, Manson Forbes D C, Black Graeme C M

Abstract excerpt

Brittle cornea syndrome (BCS) is an autosomal recessive disorder characterised by extreme corneal thinning and fragility. Corneal rupture can therefore occur either spontaneously or following minimal trauma in affected patients. Two genes, ZNF469 and PRDM5, have now been identified, in which causative pathogenic mutations collectively account for the condition in nearly all patients with BCS ascertained to date....

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Source

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Identifiers

PMID: 23642083
DOI: 10.1186/1750-1172-8-68
PMCID: PMC3659006

Genes

PRDM5

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.

Related research

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Brittle cornea syndrome: recognition, molecular diagnosis and management.PMID 23642083Read ↗

More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.Semantic proximity Read ↗

More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndromeSemantic proximity Read ↗

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.Semantic proximity Read ↗

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.Semantic proximity Read ↗

Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.Semantic proximity Read ↗

Identification and Management of a Novel PRDM5 Gene Pathologic Variant in a Family With Brittle Cornea Syndrome.Semantic proximity Read ↗

Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome.Semantic proximity Read ↗

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.Semantic proximity Read ↗

Congenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5.Semantic proximity Read ↗

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.Semantic proximity Read ↗

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.Semantic proximity Read ↗

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