Sarra Gattoussi1,2,3, Camiel J F Boon4,5, K Bailey Freund1,2,6. 1. LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear and Throat Hospital, New York, New York. 2. Vitreous Retina Macula Consultants of New York, New York, New York. 3. Department of Ophthalmology, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France. 4. Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands. 5. Department of Ophthalmology, Academic Medical Center, Amsterdam, the Netherlands. 6. Department of Ophthalmology, New York University School of Medicine, New York, New York.
Abstract
PURPOSE: We describe the long-term follow-up of a patient with multifocal Best disease with chronic bilateral serous macular detachment and unusual peripheral findings associated with a novel mutation in the BEST1 gene. METHODS: Case report. RESULTS: A 59-year-old white woman was referred for an evaluation of her macular findings in 1992. There was a family history of Best disease in the patient's mother and a male sibling. Her medical history was unremarkable. Best-corrected visual acuity was 20/20 in her right eye and 20/25 in her left eye. The anterior segment examination was normal in both eyes. Funduscopic examination showed multifocal hyperautofluorescent vitelliform deposits with areas of subretinal fibrosis in both eyes. An electrooculogram showed Arden ratios of 1.32 in the right eye and 1.97 in the left eye. Ultra-widefield color and fundus autofluorescence imaging showed degenerative retinal changes in areas throughout the entire fundus in both eyes. Optical coherence tomography, including annual eye-tracked scans from 2005 to 2016, showed persistent bilateral serous macular detachments. Despite chronic foveal detachment, visual acuity was 20/25 in her right eye and 20/40 in her left eye, 24 years after initial presentation. Genetic testing showed a novel c.238T>A (p.Phe80Ile) missense mutation in the BEST1 gene. CONCLUSION: Some patients with Best disease associated with chronic serous macular detachment can maintain good visual acuity over an extended follow-up. To our knowledge, this is the first report of Best disease associated with this mutation in the BEST1 gene.
PURPOSE: We describe the long-term follow-up of a patient with multifocal Best disease with chronic bilateral serous macular detachment and unusual peripheral findings associated with a novel mutation in the BEST1 gene. METHODS: Case report. RESULTS: A 59-year-old white woman was referred for an evaluation of her macular findings in 1992. There was a family history of Best disease in the patient's mother and a male sibling. Her medical history was unremarkable. Best-corrected visual acuity was 20/20 in her right eye and 20/25 in her left eye. The anterior segment examination was normal in both eyes. Funduscopic examination showed multifocal hyperautofluorescent vitelliform deposits with areas of subretinal fibrosis in both eyes. An electrooculogram showed Arden ratios of 1.32 in the right eye and 1.97 in the left eye. Ultra-widefield color and fundus autofluorescence imaging showed degenerative retinal changes in areas throughout the entire fundus in both eyes. Optical coherence tomography, including annual eye-tracked scans from 2005 to 2016, showed persistent bilateral serous macular detachments. Despite chronic foveal detachment, visual acuity was 20/25 in her right eye and 20/40 in her left eye, 24 years after initial presentation. Genetic testing showed a novel c.238T>A (p.Phe80Ile) missense mutation in the BEST1 gene. CONCLUSION: Some patients with Best diseaseassociated with chronic serous macular detachment can maintain good visual acuity over an extended follow-up. To our knowledge, this is the first report of Best diseaseassociated with this mutation in the BEST1 gene.
Authors: Jose Ronaldo Lima de Carvalho; Maarjaliis Paavo; Lijuan Chen; John Chiang; Stephen H Tsang; Janet R Sparrow Journal: Invest Ophthalmol Vis Sci Date: 2019-05-01 Impact factor: 4.799
Authors: Alan D Marmorstein; Adiv A Johnson; Lori A Bachman; Cynthia Andrews-Pfannkoch; Travis Knudsen; Benjamin J Gilles; Matthew Hill; Jarel K Gandhi; Lihua Y Marmorstein; Jose S Pulido Journal: Sci Rep Date: 2018-03-14 Impact factor: 4.379