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Best Vitelliform Macular Dystrophy

  • Stephen H. Tsang
  • Tarun Sharma
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 1085)

Abstract

  • Autosomal recessive bestrophinopathy (ARB) results from a total absence of functional bestrophin-1 protein owing to two BEST1 mutations, one on each of the chromosomes.

  • If present at an early age, the presenting feature could be decreased vision due to amblyopia.

  • Refractive error is hyperopia, predisposing these eyes for acute angle-closure glaucoma.

  • The yellowish lesions are larger and more extensive—extending beyond the arcades—than in the typical autosomal dominant Best disease. Some of the eyes also show numerous yellowish subretinal dots. Lesions are multifocal (Fig. 29.1).

  • Subretinal fibrosis in the macular area is a common feature.

  • Optical coherence tomography (OCT) may show cystoid changes in the neurosensory retina.

  • Fundus autofluorescence (FAF): Increased AF reflects lipofuscin accumulation in the RPE; decreased AF reflects RPE atrophy.

  • Electroretinography (ERG): As panretinal photoreceptor dysfunction progresses with advancing age, full-field (FF) ERG shows delayed rod and cone responses.

  • Electrooculography (EOG): Abnormal Arden ratio.

Keywords

Autosomal recessive Best vitelliform macular dystrophy 

Suggested Reading

  1. Fung A, Yzer S, Allikmets R. Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy. JAMA Ophthalmol. 2013;131:1651.CrossRefGoogle Scholar
  2. Silva RA, Berrocal AM, Lam BL, Albini TA. Novel mutation in BEST1 associated with retinoschisis. JAMA Ophthalmol. 2013;131:794–8.CrossRefGoogle Scholar
  3. Tian L, Sun T, Xu K, Zhang X, Peng X, Li Y. Screening of BEST1 gene in a Chinese cohort with Best vitelliform macular dystrophy or autosomal recessive bestrophinopathy. Invest Ophthalmol Vis Sci. 2017;58:3366–75.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Jonas Children’s Vision Care, Bernard & Shirlee Brown Glaucoma Laboratory, Columbia Stem Cell Initiative-Departments of Ophthalmology, Biomedical Engineering, Pathology & Cell Biology, Institute of Human Nutrition, Vagelos College of Physicians and Surgeons, Columbia UniversityNew YorkUSA
  2. 2.Department of Ophthalmology, Columbia UniversityEdward S. Harkness Eye Institute, NewYork-Presbyterian HospitalNew YorkUSA

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