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Sarra Gattoussi, K Bailey Freund; Maintenance of good visual acuity in Best disease associated with chronic bilateral serous macular detachment.. Invest. Ophthalmol. Vis. Sci. 2017;58(8):4656.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the spectrum of ocular phenotypes related to a newly identified mutation in BEST1 gene showing autosomal-dominant inheritance and the potential for preserved central vision despite chronic serous macular detachment.
Three family members with Best disease underwent ophthalmologic examination and retinal imaging. The proband underwent serial multimodal imaging over an extended follow-up with fundus photography, ultra-widefield color and fundus autofluorescence, time domain-optical coherence tomography (OCT), spectral domain-OCT, and swept source-OCT. Electrooculography (EOG) and molecular genetics analysis of the BEST1 gene were performed in this patient.
The 59-year-old white female proband was initially seen and diagnosed with Best disease in 1992. Best-corrected visual acuity was 20/20 (plano) in in her right eye and 20/25 (plano) in her left eye. An electrooculogram (EOG) showed Arden ratios that were abnormal in the right eye (1.32) and normal in the left eye (1.97). Ultra-widefield color and fundus autofluorescence imaging showed a circumferential peripheral outer retinal degeneration associated with vitelliform deposits in the posterior pole and nasal fundus. Annual OCT from 2005 to 2016 showed the presence of bilateral serous macular detachment. Despite this finding, she retained good visual acuity of 20/25 in her right eye and 20/40 in her left eye in 2016. Swept source-OCT showed bilateral thick choroids.The proband carried a single heterozygous p.Phe80I1e mutation in the BEST1 gene.The mother of the proband showed yellowish vitelliform material in the macula. The brother of the proband showed chronic blilateral serous macular detachment with an unusual ring of yellowish vitelliform material around the macula.
Some patients with Best disease associated with chronic serous macular detachment can maintain good visual acuity over an extended follow-up. This is the first report of Best disease associated with this mutation in the BEST1 gene.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
Ultra-widefield color fundus photograph (A-B) and corresponding fundus autofluorescence (C-D) of right eye and left eye show vitelliform deposit in the posterior pole and in the nasal mid peripheral retina.
Optical coherence tomography from 2005 to 2016 of the right eye (A-J) and the left eye (L-T) show the stability of the subretinal fluid.
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