July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
WITHDRAWN_Genetic variations in Bestrophin-1 and Related Clinical Findings between Chinese patients with juvenile-onset and adult-onset best vitelliform macular dystrophy
Author Affiliations & Notes
  • Ying Lin
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
  • Xinhua Huang
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
  • Lin Lu
    State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
  • Footnotes
    Commercial Relationships   Ying Lin, None; Xinhua Huang, None; Lin Lu, None
  • Footnotes
    Support  National Natural Science Foundation of China (Grant no. 81500709)
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 397. doi:https://doi.org/
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      Ying Lin, Xinhua Huang, Lin Lu; WITHDRAWN_Genetic variations in Bestrophin-1 and Related Clinical Findings between Chinese patients with juvenile-onset and adult-onset best vitelliform macular dystrophy. Invest. Ophthalmol. Vis. Sci. 2019;60(9):397. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : The goal of this study was to characterize the clinical characteristics of Chinese patients with juvenile onset BVMD and adult onset BVMD, respectively, and investigated the underlying genetic and clinical manifestation variations.

Methods : 11 juvenile onset BVMD patients and 8 adult onset BVMD were recruited. Next generation sequencing was used to identify the potential variants. Ophthalmic examinations, including best corrected visual acuity, slit lamp examination, fundus examination, fundus photography and fluorescein angiography imaging were conducted. The functional effects of the mutations were assessed by polymorphism phenotyping (PolyPhen) and sorting intolerant from tolerant (SIFT) analysis.

Results : p.304del Asp in exon 7 is a new hot spot in China, and it can cause both juvenile onset BVMD and juvenile onset BVMD. p.R255W mutation maybe not related with subretinal fluid, compared to the previous Japanese report. The visual acuity of the adult onset BVMD is worse than juvenile-onset BVMD, is easy to get incorrect initial diagnoses. Photodynamic therapy for treating vitelliform lesions caused a significant decrease in visual acuity in four out of the adult onset BVMD patients, suggesting a severe adverse effect associated with this treatment.

Conclusions : These findings expand the spectrum of Bestrophin-1 genetic variation, and will be valuable for genetic counseling and development of therapeutic interventions for patients with BVMD.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

 

Fundus examination and FFA of Adult-onset BVMD patient with p.304del Asp mutation. (A, C) Fundus examination showed a yolk like lesion in the macular of the right eye and atrophic lesion in the left eye. (B, D)FFA revealed a little hyperfluorescence in the right eye, which may be caused by the RPE defect and some hyperfluorescence in the macular area of the left eye, which corresponds to the region of the atrophic lesion of the color fundus photograph.

Fundus examination and FFA of Adult-onset BVMD patient with p.304del Asp mutation. (A, C) Fundus examination showed a yolk like lesion in the macular of the right eye and atrophic lesion in the left eye. (B, D)FFA revealed a little hyperfluorescence in the right eye, which may be caused by the RPE defect and some hyperfluorescence in the macular area of the left eye, which corresponds to the region of the atrophic lesion of the color fundus photograph.

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