Novel de novo mutation in a patient with Best macular dystrophy.
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.
Apushkin
Marsha A
MA
Department of Ophthalmology and Visual Science, University of Illinois at Chicago, USA.
Fishman
Gerald A
GA
Taylor
Christine M
CM
Stone
Edwin M
EM
D000075002:Bestrophins; D002648:Child; D018118:Chloride Channels; D004252:DNA Mutational Analysis; D004585:Electrooculography; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D012160:Retina / Q000503:physiopathology; D014792:Visual Acuity
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins