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Article

A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.

The British journal of ophthalmology - 1 Feb 2003

Reddy M A, Francis P J, Berry V, Bradshaw K, Patel R J, Maher E R, Kumar R, Bhattacharya S S, Moore A T

Abstract excerpt

AIM: To phenotype and genetically map the disease locus in a family presenting with autosomal dominant microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. METHODS: Six affected and three unaffected members of the pedigree were examined. All individuals provided a history and unde...

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Identifiers

PMID: 12543751
DOI: 10.1136/bjo.87.2.197
PMCID: PMC1771505

Genes

ROM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12543751-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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