title: Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.affiliation: Moorfields Eye Hospital, and Institute of Ophthalmology, University College London, London, United Kingdom. michel.michaelides@ucl.ac.uk
authors.forename: Michel
authors.initials: M
authors.lastname: Michaelides
authors.forename: Jill
authors.initials: J
authors.lastname: Urquhart
authors.forename: Graham E
authors.initials: GE
authors.lastname: Holder
authors.forename: Marie
authors.initials: M
authors.lastname: Restori
authors.forename: Nuha
authors.initials: N
authors.lastname: Kayali
authors.forename: Forbes D C
authors.initials: FD
authors.lastname: Manson
authors.forename: Graeme C M
authors.initials: GC
authors.lastname: Black
mesh_terms: D000075002:Bestrophins; D002386:Cataract / Q000151:congenital*; D002648:Child; D018118:Chloride Channels; D003315:Cornea / Q000002:abnormalities*; D004252:DNA Mutational Analysis; D004108:Dilatation, Pathologic; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*; D015422:Scleral Diseases / Q000235:genetics*; D013577:Syndrome
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins