Best vitelliform macular dystrophy (VMD) is an autosomal dominant inherited dystrophy, most frequently caused by mutations in the BEST1 gene. The authors describe “choroidal caverns,” a previously unreported optical coherence tomography finding in the choriocapillary and choroid of Best VMD. Histopathologic examination in eyes with Best VDM shows extensive deposition of lipofuscin in the retinal pigment epithelium (RPE) throughout the retina and accumulation of fibrillar material under the RPE and in the choroid. This supports the hypothesis that choroidal caverns could be a sign of the degenerative process involving the choroid in eyes with Best VMD.

Choroidal caverns: A previously unreported optical coherence tomography finding in best vitelliform dystrophy

Carnevali A.;
2018-01-01

Abstract

Best vitelliform macular dystrophy (VMD) is an autosomal dominant inherited dystrophy, most frequently caused by mutations in the BEST1 gene. The authors describe “choroidal caverns,” a previously unreported optical coherence tomography finding in the choriocapillary and choroid of Best VMD. Histopathologic examination in eyes with Best VDM shows extensive deposition of lipofuscin in the retinal pigment epithelium (RPE) throughout the retina and accumulation of fibrillar material under the RPE and in the choroid. This supports the hypothesis that choroidal caverns could be a sign of the degenerative process involving the choroid in eyes with Best VMD.
2018
Adolescent; Choroid; Fluorescein Angiography; Fundus Oculi; Humans; Male; Retinal Pigment Epithelium; Retinal Vessels; Tomography, Optical Coherence; Vitelliform Macular Dystrophy
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.12317/61416
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