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Andrew J. Lotery, Francis L. Munier, Gerald A. Fishman, Richard G. Weleber, Samuel G. Jacobson, Louisa M. Affatigato, Brian E. Nichols, Daniel F. Schorderet, Val C. Sheffield, Edwin M. Stone; Allelic Variation in the VMD2 Gene in Best Disease and Age-Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2000;41(6):1291-1296.
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purpose. To assess the allelic variation of the VMD2 gene in
patients with Best disease and age-related macular degeneration (AMD).
methods. Three hundred twenty-one AMD patients, 192 ethnically similar control
subjects, 39 unrelated probands with familial Best disease, and 57
unrelated probands with the ophthalmoscopic findings of Best disease
but no family history were screened for sequence variations in the VMD2 gene by single-strand conformation polymorphism
(SSCP) analysis. Amplimers showing a bandshift were reamplified and
sequenced bidirectionally. In addition, the coding regions of the VMD2 gene were completely sequenced in six probands with
familial Best disease who showed no SSCP shift.
results. Forty different probable or possible disease-causing mutations were
found in one or more Best disease or AMD patients. Twenty-nine of these
variations are novel. Of the 39 probands with familial Best disease,
mutations were detected in all 39 (33 by SSCP and 6 by DNA sequencing).
SSCP screening of the 57 probands with a clinical diagnosis of Best
disease but no family history revealed 16 with mutations. Mutations
were found in 5 of 321 AMD patients (1.5%), a fraction that was not
significantly greater than in control individuals (0/192, 0%).
conclusions. Patients with the clinical diagnosis of Best disease are significantly
more likely to have a mutation in the VMD2 gene if they
also have a positive family history. These findings suggest that a
small fraction of patients with the clinical diagnosis of AMD may
actually have a late-onset variant of Best disease, whereas at the same
time, a considerable fraction of isolated patients with the
ophthalmoscopic features of Best disease are probably affected with
some other macular disease.
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