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

  • External authors:
  • Michel Michaelides
  • Jill Urquhart
  • Graham E. Holder
  • Marie Restori
  • Nuha Kayali

Standard

Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. / Michaelides, Michel; Urquhart, Jill; Holder, Graham E.; Restori, Marie; Kayali, Nuha; Manson, Forbes D C; Black, Graeme C M.

In: American Journal of Ophthalmology, Vol. 141, No. 2, 02.2006, p. 418-420.

Research output: Contribution to journalArticlepeer-review

Harvard

Michaelides, M, Urquhart, J, Holder, GE, Restori, M, Kayali, N, Manson, FDC & Black, GCM 2006, 'Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome', American Journal of Ophthalmology, vol. 141, no. 2, pp. 418-420. https://doi.org/10.1016/j.ajo.2005.09.018

APA

Michaelides, M., Urquhart, J., Holder, G. E., Restori, M., Kayali, N., Manson, F. D. C., & Black, G. C. M. (2006). Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. American Journal of Ophthalmology, 141(2), 418-420. https://doi.org/10.1016/j.ajo.2005.09.018

Vancouver

Michaelides M, Urquhart J, Holder GE, Restori M, Kayali N, Manson FDC et al. Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. American Journal of Ophthalmology. 2006 Feb;141(2):418-420. https://doi.org/10.1016/j.ajo.2005.09.018

Author

Michaelides, Michel ; Urquhart, Jill ; Holder, Graham E. ; Restori, Marie ; Kayali, Nuha ; Manson, Forbes D C ; Black, Graeme C M. / Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome. In: American Journal of Ophthalmology. 2006 ; Vol. 141, No. 2. pp. 418-420.

Bibtex

@article{6abc4a00c0cf41489b968c0c84b8cf3d,
title = "Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome",
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. {\textcopyright} 2006 by Elsevier Inc. All rights reserved.",
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",
author = "Michel Michaelides and Jill Urquhart and Holder, {Graham E.} and Marie Restori and Nuha Kayali and Manson, {Forbes D C} and Black, {Graeme C M}",
year = "2006",
month = feb,
doi = "10.1016/j.ajo.2005.09.018",
language = "English",
volume = "141",
pages = "418--420",
journal = "American Journal of Ophthalmology",
issn = "0002-9394",
publisher = "Elsevier BV",
number = "2",

}

RIS

TY - JOUR

T1 - Evidence of genetic heterogeneity in MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome

AU - Michaelides, Michel

AU - Urquhart, Jill

AU - Holder, Graham E.

AU - Restori, Marie

AU - Kayali, Nuha

AU - Manson, Forbes D C

AU - Black, Graeme C M

PY - 2006/2

Y1 - 2006/2

N2 - 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.

AB - 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.

KW - congenital: Cataract

KW - Child

KW - abnormalities: Cornea

KW - DNA Mutational Analysis

KW - Dilatation, Pathologic

KW - Electroretinography

KW - genetics: Eye Proteins

KW - Genetic Heterogeneity

KW - Humans

KW - Male

KW - Phenotype

KW - genetics: Retinitis Pigmentosa

KW - genetics: Scleral Diseases

KW - Syndrome

U2 - 10.1016/j.ajo.2005.09.018

DO - 10.1016/j.ajo.2005.09.018

M3 - Article

C2 - 16458719

VL - 141

SP - 418

EP - 420

JO - American Journal of Ophthalmology

JF - American Journal of Ophthalmology

SN - 0002-9394

IS - 2

ER -