title: In vivo micropathology of Best macular dystrophy with optical coherence tomography.
abstract: Best macular dystrophy (BMD) is an autosomal dominant retinopathy caused by mutations in the VMD2 gene that encodes a chloride channel in the basolateral membrane of the retinal pigment epithelium (RPE). BMD patients were studied using optical coherence tomography (OCT) to understand the disease process in the macula leading to vision loss. BMD patients (ages 5-61), representing four families with known VMD2 mutations, were included. OCT scans were recorded in the central retina and longitudinal reflectivity profiles were analysed. The central retina in BMD showed different OCT abnormalities at or near the level of the highly reflective deep retinal band termed the outer retina-choroid complex (ORCC). Two types of ORCC change were noted to occur either separately or together: (1) splitting with or without intervening hyporeflective areas; and (2) elevation. Longitudinal study of a BMD patient indicated that such abnormalities were dynamic and changed in type and degree with time. The pathogenetic sequence in BMD may begin with defective fluid transport across the RPE secondary to the channelopathy in the basolateral membrane. In the macula, this leads to an abnormal interface with adjacent structures at both apical and basal surfaces of the RPE. The disease process results in detachments of the neurosensory retina, such as in central serous chorioretinopathy, and sub-RPE pathology resembling some stages of age-related macular degeneration, with eventual loss of photoreceptors, inner retina and central vision.
authors.affiliation: Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, 51 N, 39th Street, Philadelphia, PA 19104, USA. mpianta@optometry.unimelb.edu.au
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Pianta
authors.forename: Tomas S
authors.initials: TS
authors.lastname: Aleman
authors.forename: Artur V
authors.initials: AV
authors.lastname: Cideciyan
authors.forename: Janet S
authors.initials: JS
authors.lastname: Sunness
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Li
authors.forename: Betsy A
authors.initials: BA
authors.lastname: Campochiaro
authors.forename: Peter A
authors.initials: PA
authors.lastname: Campochiaro
authors.forename: Donald J
authors.initials: DJ
authors.lastname: Zack
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
authors.forename: Samuel G
authors.initials: SG
authors.lastname: Jacobson
mesh_terms: D000328:Adult; D000075002:Bestrophins; D002675:Child, Preschool; D018118:Chloride Channels; D018450:Disease Progression; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008268:Macular Degeneration / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D014054:Tomography / Q000379:methods; D014792:Visual Acuity
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins