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

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

    Research output: Contribution to journalArticlepeer-review


    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 local ethics committee and informed consent was obtained. RESULTS: A 12-year-old boy was identified with bilateral microcornea, rod-cone dystrophy, congenital cataracts, and posterior staphylomata associated with high myopia (MRCS). Mutation screening failed to identify disease-causing sequence variants in VMD2, the gene associated with MRCS syndrome. All previous subjects have had pathogenic VMD2 sequence alterations. CONCLUSIONS: We present a further report of the MRCS syndrome and provide evidence in support of genetic heterogeneity in this phenotype. © 2006 by Elsevier Inc. All rights reserved.
    Original languageEnglish
    Pages (from-to)418-420
    Number of pages2
    JournalAmerican Journal of Ophthalmology
    Issue number2
    Publication statusPublished - Feb 2006


    • congenital: Cataract
    • Child
    • abnormalities: Cornea
    • DNA Mutational Analysis
    • Dilatation, Pathologic
    • Electroretinography
    • genetics: Eye Proteins
    • Genetic Heterogeneity
    • Humans
    • Male
    • Phenotype
    • genetics: Retinitis Pigmentosa
    • genetics: Scleral Diseases
    • Syndrome


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