Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization

Ophthalmic Surg Lasers Imaging Retina. 2018 Nov 1;49(11):888-892. doi: 10.3928/23258160-20181101-10.

Abstract

The authors report the clinical course of two cases of autosomal recessive bestrophinopathy (ARB) complicated by choroidal neovascularization (CNV). One patient presenting with a novel BEST1 mutation (c.658 C>T, p.Gln220*) underwent anti-vascular endothelial growth factor therapy. Response to treatment was documented on optical coherence tomography angiography (OCTA). Despite initial response to treatment, recurrent CNV exudation with progressive subretinal fibrosis was observed. In the second patient, the CNV was not treated and spontaneous regression was observed. This report indicates that the clinical course of CNV in ARB may vary considerably, ranging from spontaneous regression to progressive subretinal fibrosis despite intervention. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:888-892.].

Publication types

  • Case Reports

MeSH terms

  • Bestrophins / genetics
  • Bestrophins / metabolism
  • Child
  • Choroid / blood supply
  • Choroid / pathology*
  • Choroidal Neovascularization / diagnosis
  • Choroidal Neovascularization / etiology*
  • Choroidal Neovascularization / physiopathology
  • DNA / genetics
  • Electroretinography
  • Eye Diseases, Hereditary / complications*
  • Eye Diseases, Hereditary / diagnosis
  • Eye Diseases, Hereditary / genetics
  • Female
  • Fluorescein Angiography / methods*
  • Fundus Oculi
  • Humans
  • Male
  • Retinal Diseases / complications*
  • Retinal Diseases / diagnosis
  • Retinal Diseases / genetics
  • Tomography, Optical Coherence / methods*
  • Visual Acuity*

Substances

  • BEST1 protein, human
  • Bestrophins
  • DNA

Supplementary concepts

  • Bestrophinopathy