Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
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.
Michaelides
Michel
M
Moorfields Eye Hospital, and Institute of Ophthalmology, University College London, London, United Kingdom. michel.michaelides@ucl.ac.uk
Urquhart
Jill
J
Holder
Graham E
GE
Restori
Marie
M
Kayali
Nuha
N
Manson
Forbes D C
FD
Black
Graeme C M
GC
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
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins