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A. Dev Borman, A. Davidson, J. O'Sullivan, D. A. Thompson, A. G. Robson, G. E. Holder, G. Black, A. R. Webster, F. Manson, A. T. Moore; Paediatric Autosomal Recessive Bestrophinopathy. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2589.
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© ARVO (1962-2015); The Authors (2016-present)
To describe the ocular phenotype of autosomal recessive bestrophinopathy (ARB) in a paediatric population.
Patients and family members underwent standard ophthalmic assessment, and where possible, ISCEV-standard full-field electroretinography (ERG), pattern ERG and electro-oculography (EOG). Autofluorescence imaging and spectral domain optical coherence tomography (OCT) were performed. Direct sequencing of all coding regions and intron-exon boundaries of BEST1 was performed in probands. Only exons of interest were sequenced in family members.
5 probands, from 5 unrelated European families, took part in the study. Patients presented by six years of age with reduced vision (n=2), strabismus (n=2) or leucocoria (n=1). Presenting visual acuity ranged between 0.12-1.10 logMAR right and 0.00-0.48 logMAR left eye. Refraction, where available, revealed hyperopia. There was a distinctive retinal appearance with an irregular retinal pigment epithelium, multifocal yellow subretinal lesions and macular changes. OCT confirmed subretinal hypo- and hyper-reflective material in all cases. Fundus autofluorescence showed a distinctive appearance. The EOG in probands showed an undetectable light rise bilaterally (2 of 2). The ERG was normal at baseline in 3 cases but 2 of 2 developed ERG abnormalities with age. Parents (8 of 8) had a normal EOG. BEST1 mutations have been identifiedin all patients sequenced to date. Of these, 3 patients are compound heterozygotes (R141H and Q159X, H178P and Y347LfsX54, and P184S and R356X in probands 1, 2 and 3 respectively) and in one only a single heterozygous nonsense mutation was found (R356X, proband 4). 4 mutations were novel.
Childhood ARB has a characteristic ocular phenotype with multifocal yellow subretinal lesions which are highly autofluorescent. The EOG is abnormal, but in contrast to the adults reported with this disorder, the full field ERGs may be normal at presentation.
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