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Purpose The aim of this study was to describe the genetic and clinical characteristics of Chinese patients with autosomal recessive bestrophinopathy (ARB). Methods This study presents a retrospective observational case series. Twenty-one ARB patients and 25 clinically healthy family members were recruited. The coding regions and adjacent intronic regions of BEST1 were analysed via Sanger sequencing. Clinical examinations, including ultrasound biomicroscopy, A-scan, optical coherence tomography, fundus autofluorescence, fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA) and visual electrophysiology, were reviewed. Results Six novel mutations (c.380C>T, p.T127M; c.397A>G, p.N133D; c.500A>G, p.E167G; c.817G>A, p.V273M; c.174_176del, p.Q58del; and c.950_955del, p.S318_L319) and 8 previously reported mutations were identified. The p.R255W mutation had the highest frequency in our cohort. Twenty patients had serous retinal detachment with multifocal subretinal vitelliform deposits in the posterior poles. One patient exhibited chorioretinal atrophy. FFA revealed peripheral vascular leakage in 10 patients, and ICGA revealed hyperfluorescent spots in 8 patients. Visual electrophysiology was abnormal in all patients. Fifteen patients with angle closure (AC) or angle-closure glaucoma (ACG) had shallower anterior chambers and shorter axial lengths than the patients with open angle, contributing to their risk of developing AC/ACG. One patient developed AC during the 7-year follow-up period. The misdiagnosis and missed rates were 35.3% and 58.8%, respectively. Conclusion The six novel mutations and high frequency of p.R255W suggest ethnical differences in the BEST1 mutation spectrum among Chinese patients. BEST1 gene screening and detailed clinical examinations help establishing a diagnosis of ARB. Clinical evaluations of the risk of developing AC/ACG are recommended for ARB patients.

Citation information: Chen H, Wen F, Li H, Zuo C, Zhang X, Huang S & Luo G. The types and severity of high myopic maculopathy in Chinese patients. Ophthalmic Physiol Opt 2011. doi: 10.1111/j.1475-1313.2011.00861.x Abstract Objective: To describe the severity and morphological features of high myopic maculopathy in Chinese patients and to evaluate their association with age, refractive error and visual acuity. Methods: Six hundred and four eyes of 337 patients (ages 8–88 years) with high myopia (refractive error ≤ −6.0 D) presenting to the Zhongshan Ophthalmic Center were studied retrospectively. All patients underwent an ophthalmological examination including digital colour fundus photography. Fundus fluorescein angiography was performed in 251 patients (443 eyes) and indocyanine green angiography was performed in 35 patients (63 eyes). The type and severity of myopic degeneration were categorized in each eye. Risk factors associated with high myopic maculopathy were evaluated using General Estimating Equation models. Results: Two hundred and fifty-one patients (443 eyes) presented with maculopathy in this study. The most common subtype of high myopic maculopathy was lacquer cracks (prevalence 29.1%). The most commonly observed degree was M3 (choroidal pallor and tessellation, with posterior staphyloma and lacquer cracks). Older age was significantly associated with diffuse chorioretinal atrophy (p = 0.024), patchy chorioretinal atrophy (p

Purpose: To compare multifocal electroretinograms (ERGs) in control subjects and patients with central serous chorioretinopathy (CSC). Method: Eighteen eyes of control subjects and 15 eyes affected by CSC were tested with a VERIS Sciences 4.0 system. The average response densities and latencies of six annular retinal regions in control subjects were compared with those with CSC. Results: The N1, P1 average response densities of the first and second annuli were decreased and the N1, P1 latencies of first to third rings were delayed in CSC. Conclusion: The multifocal ERG can be used to evaluate retinal dysfunction in CSC.