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Veronika Vaclavik, Francis L Munier, Viet Hoai Tran, Daniel F Schorderet; Autosomal recessive besotropinopathy : A novel mutation in BEST1 gene in a consanguinous family. Genotype/Phenotype correlation and follow up of 3 years. Invest. Ophthalmol. Vis. Sci. 2014;55(13):3257.
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© ARVO (1962-2015); The Authors (2016-present)
To report the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy due to a novel c.1622delT homzygous mutation in BEST1 over a follow up period of 3 years
3 affected siblings and one unaffected patient (mother) from one consanguineous family were assessed. All patients had complete ophthalmologic examination, including ISCEV standard EOG and full field ERGs testing, autofluorescence (AF) and OCT imaging. Blood samples were taken from all members. Some members were assessed over a period of 3 years. One patient was treated with acetazolamide for several months.
The 18-, 26- and 31-year old patients at the time of the first visit had asymmetrically bilateral reduced central vision, ranging from 20/200 to 15/20. All patients presented a spectrum of fundus abnormalities: subretinal fibrous scar, multifocal yellowish deposits and cystoid intraretinal collections. The AF imaging showed multiple hyperfluorescent deposits, aligned in circle. Two patients were hyperopic. The EOG was abnormal in all patients. The visual acuity remained stable during the 3-year follow up. The cystoid macular changes in patient treated with acetazolamide did not change over time. The affected patients carried the c.1622delT homozygous mutation in BEST1, leading to an L541Rfs mutation at the protein level.
Typical AF changes concomitant with absence light rise on EOG represent a robust phenotypic marker of autosomal recessive bestrophinopathy. This diserder has a good prognosis, as no changes were observed over time.
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