title: Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).
abstract: The objective of the paper is to study the retinal microstructure and function in a patient with autosomal recessive bestrophinopathy (ARB). Retinal function and morphology assessment in a patient diagnosed with a biallelic mutation in the BEST1 gene (heterozygote mutations: Leu88del17 and A195V) included: full-field electroretinogram (ffERG) and multifocal electroretinogram (mfERG), electro-oculogram (EOG) testing, and imaging with a high-resolution Fourier-domain optical coherence tomography (Fd-OCT) system (UC Davis Medical Center; axial resolution: 4.5 microm, acquisition speed: 9 frames/s, 1,000 A-scans/frame) combined with a flexible scanning head (Bioptigen Inc.). The 11-year old asymptomatic boy showed a well-demarcated retinopathy with deposits. Functional assessment revealed normal visual acuity, reduced central mfERG responses, delayed rod and rod-cone b-wave ffERG responses, and reduced light rise in the EOG. Fd-OCT demonstrated RPE deposits, photoreceptor detachment, elongated and thickened photoreceptor outer segments, but preserved inner retinal layers. In conclusion, ARB associated retinal dystrophy shows functional and morphological changes that overlap with classic Best disease. For the first time, high-resolution imaging provided in vivo evidence of RPE and photoreceptor involvement in ARB.
authors.affiliation: Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, University of Toronto, Toronto, Canada. chgerth@web.de
authors.forename: Christina
authors.initials: C
authors.lastname: Gerth
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Zawadzki
authors.forename: John S
authors.initials: JS
authors.lastname: Werner
authors.forename: Elise
authors.initials: E
authors.lastname: Héon
mesh_terms: D000483:Alleles; D000075002:Bestrophins; D002648:Child; D018118:Chloride Channels / Q000235:genetics*; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005583:Fourier Analysis; D005654:Fundus Oculi; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009154:Mutation; D020419:Photoreceptor Cells, Vertebrate; D012160:Retina / Q000503:physiopathology; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D055213:Retinal Pigment Epithelium / Q000473:pathology; D041623:Tomography, Optical Coherence; D014785:Vision, Ocular
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins