Bestrophins and retinopathies

Invited Review

DOI: 10.1007/s00424-010-0821-5

Cite this article as:
Xiao, Q., Hartzell, H.C. & Yu, K. Pflugers Arch - Eur J Physiol (2010) 460: 559. doi:10.1007/s00424-010-0821-5

Abstract

Best vitelliform macular dystrophy (BVMD, also called Best’s disease) is a dominantly inherited, juvenile-onset form of macular degeneration, which is characterized by abnormal accumulation of yellow pigment in the outer retina and a depressed electro-oculogram light peak (LP). Over 100 disease-causing mutations in human bestrophin-1 (hBest1) are closely linked to BVMD and several other retinopathies. However, the physiological role of hBest1 and the mechanisms of retinal pathology remain obscure partly because hBest1 has been described as a protein with multiple functions including a Ca2+-activated Cl- channel, a Ca2+ channel regulator, a volume-regulated Cl- channel, and a HCO3- channel. This review focuses on how dysfunction of hBest1 is related to the accumulation of yellow pigment and a decreased LP. The dysfunction of hBest1 as a HCO3- channel or a volume-regulated Cl- channel may be associated with defective regulation of the subretinal fluid or phagocytosis of photoreceptor outer segments by retinal pigment epithelium cells, which may lead to fluid and pigment accumulation.

Keywords

Bestrophin Best vitelliform macular dystrophy Chloride channel Retinopathies 

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Department of Cell Biology and Center for Neurodegenerative DiseaseEmory University School of MedicineAtlantaUSA

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