Multimodal imaging and genetic analysis of adult‑onset best vitelliform macular dystrophy in Chinese patients

Lin,Ying; Li,Tao; Liu,Bingqian; Lyu,Cancan; Lian,Yu; Li,Jizhu; Huang,Ying; Li,Haichun; Wu,Qingxiu; Jin,Chenjin; Lu,Lin

doi:10.3892/etm.2021.10466

Multimodal imaging and genetic analysis of adult‑onset best vitelliform macular dystrophy in Chinese patients

Authors:
- Ying Lin
- Tao Li
- Bingqian Liu
- Cancan Lyu
- Yu Lian
- Jizhu Li
- Ying Huang
- Haichun Li
- Qingxiu Wu
- Chenjin Jin
- Lin Lu
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Affiliations: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat‑sen University, Guangzhou, Guangdong 510000, P.R. China
Published online on: July 19, 2021 https://doi.org/10.3892/etm.2021.10466
Article Number: 1034
Copyright: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Compared to juvenile‑onset best vitelliform macular dystrophy (BVMD), adult‑onset BVMD is not well characterized and lacks strict diagnostic criteria. The present study aimed to evaluate the clinical and genetic characteristics of four advanced‑age Chinese patients with adult‑onset BVMD by combining multimodal imaging and genetic analysis. The four patients (all older than 50 years) were diagnosed with adult‑onset BVMD at Zhongshan Ophthalmic Center (Guangzhou, China). Comprehensive ophthalmic examinations were performed, including analyses of best‑corrected visual acuity, intraocular pressure, slit‑lamp examination, fundus photography, optical coherence tomography, fundus fluorescein angiography and electrooculography. Genomic DNA was extracted from leukocytes isolated from peripheral blood obtained from these patients, their family members and 200 unrelated subjects from the same population. A total of 11 exons of the bestrophin‑1 (BEST1) gene were amplified using PCR and sequenced. All of the four patients presented with lesions in the macular area. The patients were diagnosed with adult‑onset BVMD based on multimodal imaging and genetic analysis. A total of four recurrent mutations, namely c.763C>T (p.Arg255Trp, p.R255W) in exon 7, c.584C>T (p.Ala195Val, p.A195V) in exon 5, c.910_912del GAT (p.304delAsp, p.D304del) in exon 8 and c.310G>C (p.Asp104His, p.D104H) in exon 4 of BEST1, were identified. Sorting intolerant from tolerant predicted that the amino acid substitutions p.R255W, p.A195V and p.D104H in the BEST1 protein were causing the damage. Combining multimodal imaging and genetic analysis was helpful in confirming the diagnosis of patients with adult‑onset BVMD. These results maybe valuable for clinical and genetic counseling and for the development of therapeutic interventions for patients with BVMD.

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