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Camiel J. F. Boon, MD; B. Jeroen Klevering, MD, PhD; Anneke I. den Hollander, PhD; Marijke N. Zonneveld, BS; Thomas Theelen, MD, PhD; Frans P. M. Cremers, PhD; Carel B. Hoyng, MD, PhD

Arch Ophthalmol. 2007;125(8):1100-1106.

Objective  To describe the clinical and genetic findings in 15 patients with multifocal vitelliform lesions.

Methods  All patients and, if possible, affected family members underwent an ophthalmic examination and their genomic DNA was analyzed for mutations in the vitelliform macular dystrophy 2 (VMD2) gene. Patients who did not have a mutation in the VMD2 gene were screened for mutations in the peripherin/RDS gene.

Results  Patient age at onset of the disease was highly variable, ranging from 5 to 59 years. The peripheral lesions varied in number, size, and overall appearance but showed similar characteristics at autofluorescence imaging and optical coherence tomography compared with the central vitelliform lesion. Mutations in the VMD2 gene were identified in 9 of 15 patients. One patient without a VMD2 mutation carried a sequence variant in the 5' untranslated region of the peripherin/RDS gene.

Conclusions  Multifocal vitelliform dystrophy is a clinically and genetically heterogeneous retinal disease that can be caused by mutations in the VMD2 gene. Other genes associated with this phenotype remain to be identified.

Clinical Relevance  Clinical and molecular genetic characterization of multifocal vitelliform dystrophy may lead to better understanding of the pathophysiological mechanisms underlying this phenotype and may enable a more accurate prognosis in individual patients.

Author Affiliations: Departments of Ophthalmology (Drs Boon, Klevering, Theelen, and Hoyng) and Human Genetics (Drs den Hollander and Cremers and Ms Zonneveld) and the Nijmegen Centre for Molecular Life Sciences (Drs den Hollander and Cremers), Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.

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