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Article

Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing.

Current medical science - 1 Apr 2024

Li Jia-Xun, Meng Ling-Rui, Hou Bao-Ke, Hao Xiao-Lu, Wang Da-Jiang, Qu Ling-Hui, Li Zhao-Hui, Zhang Lei, Jin Xin

Abstract excerpt

OBJECTIVE: Autosomal recessive bestrophinopathy (ARB), a retinal degenerative disease, is characterized by central visual loss, yellowish multifocal diffuse subretinal deposits, and a dramatic decrease in the light peak on electrooculogram. The potential pathogenic mechanism involves mutations in the BEST1 gene, which encodes Ca2+-activated Cl- channels in the retinal pigment epithelium (RPE), resulting in...

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PMID: 38619684
DOI: 10.1007/s11596-024-2865-3

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