Autosomal recessive bestrophinopathy associated with angle-closure glaucoma

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• 作者：C. Crowley (1)
  R. Paterson (1)
  T. Lamey (1) (2)
  T. McLaren (1)
  J. De Roach (1)
  E. Chelva (1)
  J. Khan (1) (2)
  
• 关键词：BEST1 gene ; Autosomal recessive bestrophinopathy ; Best vitelliform macular dystrophy ; Angle ; closure glaucoma ; Electroretinography ; Electro ; oculography ; Intraocular pressure
• 刊名：Documenta Ophthalmologica
• 出版年：2014
• 出版时间：August 2014
• 年：2014
• 卷：129
• 期：1
• 页码：57-63
• 全文大小：3,592 KB
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• 作者单位：C. Crowley (1)
  R. Paterson (1)
  T. Lamey (1) (2)
  T. McLaren (1)
  J. De Roach (1)
  E. Chelva (1)
  J. Khan (1) (2)
  
  1. Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Hospital Avenue, Nedlands, WA, 6009, Australia
  2. Centre for Ophthalmology and Visual Science, University of Western Australia, Nedlands, WA, 6009, Australia
  
• ISSN：1573-2622

文摘

Purpose Abnormalities in the BEST1 gene have recently been recognised as causing autosomal recessive bestrophinopathy (ARB). ARB has been noted to have a variable phenotypic presentation, distinct from that of autosomal dominant Best vitelliform macular dystrophy (BVMD). Both conditions are associated with deposits in the retina, a reduced or absent electro-oculography (EOG) light rise, and the risk of developing angle-closure glaucoma. Herein, we describe the clinical and genetic characteristics of a young male diagnosed with ARB associated with angle-closure glaucoma resulting from a novel homozygous mutation in BEST1. Methods All research involved in this case adhered to the tenets of the Declaration of Helsinki. The proband underwent slitlamp examination, retinal autofluorescence imaging and optical coherence tomography after presenting with deteriorating vision. The findings prompted genetic testing with bi-directional DNA sequencing of coding and flanking intronic regions of BEST1. The proband’s family members were subsequently screened. Results A provisional diagnosis of ARB was made based on the findings of subretinal and schitic lesions on fundoscopy and retinal imaging, together with abnormal EOG and electroretinography. Genetic testing identified a novel homozygous mutation in BEST1, c.636+1 G>A. Family members were found to carry one copy of the mutation and had no clinical or electrophysiological evidence of disease. The proband was additionally diagnosed with angle-closure glaucoma requiring topical therapy, peripheral iridotomies and phacoemulsification. Conclusions Phenotypic overlap, reduced penetrance, variable expressivity and the ongoing discovery of new forms of bestrophinopathies add to the difficulty in distinguishing these retinal diseases. All patients diagnosed with ARB or BVMD should be examined for narrow angles and glaucoma, given their frequent association with these conditions.