Abstract
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 language | English |
---|---|
Pages (from-to) | 418-420 |
Number of pages | 2 |
Journal | American Journal of Ophthalmology |
Volume | 141 |
Issue number | 2 |
DOIs | |
Publication status | Published - Feb 2006 |
Keywords
- 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