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.