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Article

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

American journal of ophthalmology - 1 Feb 2006

Michaelides Michel, Urquhart Jill, Holder Graham E, Restori Marie, Kayali Nuha, Manson Forbes D C, Black Graeme C M

Abstract excerpt

PURPOSE: To present the detailed phenotype of a subject with MRCS (microcornea, retinal dystrophy, cataract, and posterior staphyloma) syndrome and to investigate the underlying molecular genetic basis. DESIGN: Interventional case report. METHODS: Clinical examination, electrophysiologic assessment, B-scan ultrasonography, and mutation screening of the gene VMD2. The protocol of the study was approved by the...

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Source

Identifiers

PMID: 16458719
DOI: 10.1016/j.ajo.2005.09.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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