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.
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.
Authors: A C Cohn; C Turnbull; J B Ruddle; R H Guymer; L S Kearns; S Staffieri; H T Daggett; A W Hewitt; D A Mackey Journal: Eye (Lond) Date: 2010-11-26 Impact factor: 3.775
Authors: Andrea Sodi; Francesca Menchini; Maria Pia Manitto; Ilaria Passerini; Vittoria Murro; Francesca Torricelli; Ugo Menchini Journal: Mol Vis Date: 2011-11-24 Impact factor: 2.367
Authors: Karsten Hufendiek; Katerina Hufendiek; Herbert Jägle; Heidi Stöhr; Marius Book; Georg Spital; Günay Rustambayova; Carsten Framme; Bernhard H F Weber; Agnes B Renner; Ulrich Kellner Journal: Int J Mol Sci Date: 2020-12-08 Impact factor: 5.923