PURPOSE: To study the presence of Best macular dystrophy (VMD2) gene mutations in patients diagnosed with maculopathies other than classic Best disease and to describe the clinical characteristics of these subjects. DESIGN: Case-comparison study of phenotype-genotype correlations. METHODS: Patients with either age-related maculopathy (ARM; n = 259) or maculopathies other than classic Best disease (n = 28) were screened for mutations in the Best gene (VMD2; OMIM 153700). These cases were compared with ethnically similar subjects in the same age range without maculopathy (n = 196). All patients underwent a complete dilated ocular examination, and all affected individuals underwent fundus photography. Phenotype-genotype comparisons were made. MAIN OUTCOME MEASURES: Presence of mutations in the Best gene (VMD2; OMIM 153700) and the clinical phenotype. RESULTS: Three of 259 patients (1%) with ARM and 2 of 28 patients (7%) with other maculopathies including 1 of 3 patients with adult-onset foveomacular vitelliform dystrophy and 1 of 5 patients with a bull's eye maculopathy, but none of the controls, were found to possess amino acid-changing variants in the VMD2 gene. These included a man with confluent drusen and retinal pigment epithelial detachments (variant in exon 6; T216I), a man with geographic atrophy and numerous soft drusen (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations resembling bull's-eye maculopathy (variant in exon 4; E119Q), and a woman diagnosed with adult-onset foveomacular vitelliform dystrophy (variant in exon 4; A146K). CONCLUSIONS: Novel mutations in the VMD2 gene were found in patients diagnosed with maculopathies other than classic Best disease. Some cases diagnosed as adult-onset vitelliform foveomacular dystrophy may represent a variant of Best disease with delayed onset. The VMD2 gene does not play a major role in the development of ARM.
PURPOSE: To study the presence of Best macular dystrophy (VMD2) gene mutations in patients diagnosed with maculopathies other than classic Best disease and to describe the clinical characteristics of these subjects. DESIGN: Case-comparison study of phenotype-genotype correlations. METHODS:Patients with either age-related maculopathy (ARM; n = 259) or maculopathies other than classic Best disease (n = 28) were screened for mutations in the Best gene (VMD2; OMIM 153700). These cases were compared with ethnically similar subjects in the same age range without maculopathy (n = 196). All patients underwent a complete dilated ocular examination, and all affected individuals underwent fundus photography. Phenotype-genotype comparisons were made. MAIN OUTCOME MEASURES: Presence of mutations in the Best gene (VMD2; OMIM 153700) and the clinical phenotype. RESULTS: Three of 259 patients (1%) with ARM and 2 of 28 patients (7%) with other maculopathies including 1 of 3 patients with adult-onset foveomacular vitelliform dystrophy and 1 of 5 patients with a bull's eye maculopathy, but none of the controls, were found to possess amino acid-changing variants in the VMD2 gene. These included a man with confluent drusen and retinal pigment epithelial detachments (variant in exon 6; T216I), a man with geographic atrophy and numerous soft drusen (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations (variant in exon 10; L567F), a woman with drusen and retinal pigment epithelial alterations resembling bull's-eye maculopathy (variant in exon 4; E119Q), and a woman diagnosed with adult-onset foveomacular vitelliform dystrophy (variant in exon 4; A146K). CONCLUSIONS: Novel mutations in the VMD2 gene were found in patients diagnosed with maculopathies other than classic Best disease. Some cases diagnosed as adult-onset vitelliform foveomacular dystrophy may represent a variant of Best disease with delayed onset. The VMD2 gene does not play a major role in the development of ARM.
Authors: Karina E Guziewicz; Julianna Slavik; Sarah J P Lindauer; Gustavo D Aguirre; Barbara Zangerl Journal: Invest Ophthalmol Vis Sci Date: 2011-06-23 Impact factor: 4.799
Authors: S Scott Whitmore; Elliott H Sohn; Kathleen R Chirco; Arlene V Drack; Edwin M Stone; Budd A Tucker; Robert F Mullins Journal: Prog Retin Eye Res Date: 2014-12-05 Impact factor: 21.198
Authors: D Marchant; K Yu; K Bigot; O Roche; A Germain; D Bonneau; V Drouin-Garraud; D F Schorderet; F Munier; D Schmidt; P Le Neindre; C Marsac; M Menasche; J L Dufier; R Fischmeister; C Hartzell; M Abitbol Journal: J Med Genet Date: 2007-02-07 Impact factor: 6.318