Original articlePhenotype and genotype correlations in two best families☆
Section snippets
Methods
The Family Macular Degeneration Study at the Epidemiology Unit of the Massachusetts Eye and Ear Infirmary is a National Institutes of Health-supported, Human Subjects Committee-approved study for evaluation of the genetic basis of macular degeneration. From this study's database, we identified two families with a maculopathy diagnosed as Best disease. One member of each family underwent genotyping to serve as an internal control for Best disease in a study of non-Best maculopathies.10 Cases of
Results
Twenty-one family members in the two pedigrees were studied (Table 1). Eleven individuals had some evidence of maculopathy within a 1500μ diameter circle centered on the fovea, and no eccentric lesions were seen. Ten of these 11 patients (91%) with maculopathy had a mutation in the VMD2 gene, of which 8 were clinically diagnosed as Best disease and 2 were consistent with Best maculopathy. The one patient with maculopathy who did not have a mutation in the VMD2 gene had AMD. Ten family members
Discussion
Ten of 11 patients with maculopathy in the two pedigrees had mutations in the VMD2 gene. These 10 family members had either juvenile- or adult-onset visual loss with funduscopic findings consistent with Best disease. The one patient with maculopathy who did not have a mutation in this gene had late-onset visual loss and findings consistent with exudative AMD. The four asymptomatic individuals who lacked demonstrable pathologic features in the macula on funduscopic examination but had abnormal
Acknowledgements
The authors thank the families who participated in this study, as well as the ophthalmologists and optometrists who assisted with completing the study materials. These physicians include: William Deegan, MD, Samuel Gold, MD, Antonino Iorfino, MD, Sulayman Jallow, MD, Lawrence T. Reese, MD, George Shaker, MD, Robert Sherman, MD, Jack Sipperley, MD, Robert Stephens, MD, Lawrence Weene, MD, Gus Garmizo, OD, Michael J. Elman, MD, and Emily Chew, MD.
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Cited by (0)
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Manuscript no. 220491.
Supported by the National Institutes of Health, Bethesda, Maryland (grant nos.: EY 11309 and EY 13435); The Foundation Fighting Blindness, Inc., Owings Mills, Maryland; Massachusetts Lions Eye Research Fund, Inc., Northboro, Massachusetts; and Research to Prevent Blindness, Inc., New York, New York.