May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Mutations in VMD2 Cause Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)
Author Affiliations & Notes
  • B.P. Leroy
    Department of Ophthalmology & Center for Medical Genetics,
    Ghent University Hospital, Ghent, Belgium
  • J. Yardley
    Academic Unit of Medical Genetics & Regional Genetics Service, St. Maryâ|*128*|
  • N. Hart–Holden
    Academic Unit of Medical Genetics & Regional Genetics Service, St. Maryâ|*128*|
  • B.A. Lafaut
    Department of Ophthalmology, St. Jan General Hospital, Bruges, Belgium
  • B. Puech
    Exploration Fonctionelle de la Vision, CHRU HÃ'pital Roger Salengro, Lille, France
  • M.A. Reddy
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • J.–J. De Laey
    Department of Ophthalmology,
    Ghent University Hospital, Ghent, Belgium
  • P. Kestelyn
    Department of Ophthalmology,
    Ghent University Hospital, Ghent, Belgium
  • A.T. Moore
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • G.C. M. Black
    Academic Department of Ophthalmology, Manchester Royal Eye Hospital, Manchester, United Kingdom
  • Footnotes
    Commercial Relationships  B.P. Leroy, None; J. Yardley, None; N. Hart–Holden, None; B.A. Lafaut, None; B. Puech, None; M.A. Reddy, None; J. De Laey, None; P. Kestelyn, None; A.T. Moore, None; G.C.M. Black, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 5250. doi:
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      B.P. Leroy, J. Yardley, N. Hart–Holden, B.A. Lafaut, B. Puech, M.A. Reddy, J.–J. De Laey, P. Kestelyn, A.T. Moore, G.C. M. Black; Mutations in VMD2 Cause Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) . Invest. Ophthalmol. Vis. Sci. 2005;46(13):5250.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: To describe the probable mechanism of specific mutations in VMD2 leading to ADVIRC, and to illustrate the clinical and electrophysiological phenotype in such patients. ADVIRC is a rare retinal dystrophy accompanied by defects in ocular development. Methods: Forty–one affected individuals of 5 large ADVIRC families were clinically examined. In the majority of these additional electrophysiological evaluation was performed, including electro–oculography (EOG) and electroretinography (ERG). Linkage analysis suggested that the gene responsible for ADVIRC is located on chromosome 11q12.3. Mutation detection analysis in the VMD2 gene was performed in all patients. Results: Mutations in VMD2 were identified in all 5 families, which result in simultaneous missense substitutions and exon skipping in each individual. All patients (100%) had the characteristic hyperpigmented retinal band from equator to ora serrata. In 83% of them microcornea was noted. About 56% of patients had vitreous abnormalities, cells in the vitreous were seen in 25%. In 54% of patients the anterior chamber was shallow. A significantly reduced Arden–De Rouck ratio on EOG was noted in 100% of patients, frequently well before ERG responses were reduced. The ERG was abnormal in 77% of patients. Conclusions: Mutations in VMD2 are the underlying cause in ADVIRC. The clinical phenotype of ADVIRC is that of a variably severe chorioretinal dystrophy in combination with ocular develop–mental defects. The EOG is abnormal early during the course of the disease and prior to ERG abnormalities.

Keywords: retinal degenerations: hereditary • degenerations/dystrophies • electrophysiology: clinical 
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