Abstract
Canine bestrophinopathy (cBest) is an important translational model for BEST1-associated maculopathies in man that recapitulates the broad spectrum of clinical and molecular disease aspects observed in patients. Both human and canine bestrophinopathies are characterized by focal to multifocal separations of the retina from the RPE. The lesions can be macular or extramacular, and the specific pathomechanism leading to formation of these lesions remains unclear. We used the naturally occurring canine BEST1 model to examine factors that underlie formation of vitelliform lesions and addressed the susceptibility of the macula to its primary detachment in BEST1-linked maculopathies.
Keywords:
BEST1; Bestrophinopathies; Canine model; Cone photoreceptors; Insoluble interphotoreceptor matrix; Macula; RPE apical domain; RPE microvilli; RPE-photoreceptor interface; Vitelliform lesion formation.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Bestrophins / deficiency*
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Bestrophins / genetics
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Bestrophins / physiology
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Cytoskeletal Proteins / metabolism
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Dog Diseases / genetics
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Dog Diseases / metabolism
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Dog Diseases / pathology*
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Dogs
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Extracellular Matrix / pathology
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Eye Proteins / metabolism
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Genes, Recessive
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Humans
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Microvilli / pathology
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Models, Animal*
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Monocarboxylic Acid Transporters / metabolism
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Retinal Cone Photoreceptor Cells / pathology
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Retinal Detachment / etiology
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Retinal Pigment Epithelium / metabolism
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Retinal Pigment Epithelium / pathology*
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Species Specificity
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Symporters / metabolism
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Vitelliform Macular Dystrophy / genetics
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Vitelliform Macular Dystrophy / metabolism
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Vitelliform Macular Dystrophy / pathology
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Vitelliform Macular Dystrophy / veterinary*
Substances
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BEST1 protein, human
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Bestrophins
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Cytoskeletal Proteins
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Eye Proteins
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Monocarboxylic Acid Transporters
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Symporters
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ezrin
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monocarboxylate transport protein 1