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Guo, Jingli, MD, PhD; Gao, Fengjuan, MD, PhD; Tang, Wenyi, MD; Qi, Yuhe, MD; Xuan, Yi, MD, PhD; Liu, Wei, MD, PhD; Li, Lei, MD; Ye, Xiaofeng, MD, PhD; Xu, Gezhi, MD; Wu, Jihong, MD, PhD; Zhang, Yongjin, MD

doi: 10.1097/IAE.0000000000002183
Original Study: PDF Only

Purpose: To characterize novel BEST1 mutations and the phenotype–genotype correlations in vitelliform macular dystrophy in a Chinese population.

Methods: Seventeen individuals affected by vitelliform macular dystrophy underwent detailed ophthalmic examinations, including a best-corrected visual acuity test, slit-lamp biomicroscopy, fundus photography, spectral-domain optical coherence tomography, fundus autofluorescence, fluorescein angiography, and optical coherence tomography angiography. Next-generation sequencing was used to screen 790 genes frequently involved in common inherited nonsyndromic eye diseases in all participants. Sanger sequencing was used to identify possible disease-causing variants.

Results: The mean ± SD age of the patients was 44.20 ± 15.09 (range: 16–69) years. Seven novel BEST1 mutations were identified: six heterozygous missense (p.Thr307Asn, p.Ile295The, p.Leu75Pro, p.Thr2Ser, p.Ser79Tyr, and p.Val81Leu) and one frameshift (p.Glu115GlufsX120) mutation. Choroidal neovascularization was detected in two probands. One individual presented with subfoveal focal choroidal excavation. Arden ratios obtained by electrooculography were less than the 1.5 cutoff value in 7 patients. No mutations were identified in 2 patients, one of whom had a fundus appearance typical of vitelliform macular dystrophy and a decreased Arden ratio (1.2/1.2).

Conclusion: Patients with the same heterozygous BEST1 mutations exhibited varying phenotypes. Our results have expanded the BEST1 mutation spectrum in a Chinese population with vitelliform macular dystrophy.

Our research identified a novel BEST1 mutation, expanding the BEST1 mutation spectrum, in a Chinese population with vitelliform macular dystrophy and reported atypical clinical features of vitelliform macular dystrophy, which differ from those identified in patients of other races.

Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.

Reprint requests: Yongjin Zhang, MD, Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China; e-mail:

Supported by grant SHDC12016116 from the Science and Technology Commission of Shanghai Municipality.

None of the authors have any financial/conflicting interests to disclose.

J. Guo and F. Gao contributed equally as first authors.

© 2019 by Ophthalmic Communications Society, Inc.