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  Vol. 124 No. 6, June 2006 TABLE OF CONTENTS
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  Ophthalmic Molecular Genetics
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Novel De Novo Mutation in a Patient With Best Macular Dystrophy

Marsha A. Apushkin, MD; Gerald A. Fishman, MD; Christine M. Taylor, BS; Edwin M. Stone, MD, PhD

Arch Ophthalmol. 2006;124:887-889.

Objective  To report a novel de novo vitelliform macular dystrophy (VMD2) mutation in a patient with Best macular dystrophy.

Methods  Best-corrected visual acuity, dilated fundus examination, and electro-oculography were performed in a patient with Best macular dystrophy and his parents. Both the patient and his parents also had blood samples drawn, and their DNA was analyzed by direct genomic sequencing.

Results  A heterozygous VMD2 gene missense mutation in exon 2 (Thr6Ala [ACA>GCA]) was identified in the proband. This mutation was not present in his clinically unaffected parents.

Conclusions  A novel de novo mutation in the VMD2 gene was found in a patient whose phenotype and electro-oculographic findings were characteristic of Best macular dystrophy, whereas both parents were phenotypically and genetically unaffected. The findings in this family document that a de novo mutation needs to be considered when an isolated family member is found to have a Best disease phenotype.


Author Affiliations: Department of Ophthalmology and Visual Science, University of Illinois at Chicago (Drs Apushkin and Fishman), and Department of Ophthalmology, Howard Hughes Medical Institute, University of Iowa, Iowa City (Ms Taylor and Dr Stone).



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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Autosomal Recessive Best Vitelliform Macular Dystrophy: Report of a Family and Management of Early-Onset Neovascular Complications
Iannaccone et al.
Arch Ophthalmol 2011;129:211-217.
ABSTRACT | FULL TEXT  

Phenotypic Variability Due to a Novel Glu292Lys Variation in Exon 8 of the BEST1 Gene Causing Best Macular Dystrophy
Sohn et al.
Arch Ophthalmol 2009;127:913-920.
ABSTRACT | FULL TEXT  





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