Tomomi Nishida

High Prevalence of Mutations in the EYS Gene in Japanese Patients with Autosomal Recessive Retinitis Pigmentosa

PURPOSE To screen for disease-causing mutations in the Eyes shut homolog (EYS) gene in Japanese patients with retinitis pigmentosa (RP). Methods. Blood samples were obtained from 68 RP patients and 68 controls. Genomic DNA was extracted from the blood samples and used for screening of mutations in the coding exons by direct sequencing. Each patient underwent a detailed clinical examination. RESULTS Nine nucleotide sequence variations causing amino acid changes were observed in homozygous or heterozygous alleles in 26 patients but not in 68 controls. Seven truncating mutations were found in 21 (32.8%) of 64 patients with nonsyndromic RP composed of 23 autosomal recessive RP (arRP) and 41 sporadic cases. The most abundant mutation was p.S1653Kfs*2, which was generated by a single adenine insertion into exon 26 (c.4957dupA) and was carried by 15 patients. The mutation p.Y2935*, produced by a single nucleotide substitution (c.8805C>A) in the last exon, was carried by five patients. These two truncating mutations were probably founder mutations because each was carried by the particular haplotype. The patients with homozygous or compound heterozygous truncating mutations showed a severe decline in visual acuity, whereas those with a single truncating mutation showed a mild decline. CONCLUSIONS One-third of Japanese patients with nonsyndromic arRP carried probable pathogenic mutations in the EYS gene, including two founder mutations. Because the genotype was correlated with the phenotype, genotyping in the EYS gene could be a valuable tool for predicting long-term prognoses of Japanese patients with arRP and thus could be useful for genetic counseling and future gene therapy.

Clinical Course before and after Cataract and Glaucoma Surgery under Systemic Infliximab Therapy in Patients with Behçet's Disease.

Purpose: Patients with Behçet’s disease often need intraocular surgeries for the treatment of secondary cataract or glaucoma. This study aims to report the clinical course before and after the intraocular surgeries of 5 patients who were systematically treated with infliximab. Methods: Retrospective case series. Results: Seven eyes of 5 male patients with Behçet’s disease, who underwent intraocular surgery while under systemic infliximab therapy at Yokohama City University Hospital from 2007 to 2009, were included in the study. The mean age at surgery was 44.2 years. Phacoemulsification was performed on 4 eyes, and trabeculectomy was done on the remaining 3 eyes. The mean duration since the onset of the ocular symptoms was 107 months. Control of the ocular attacks with the use of other systemic medications was difficult for all patients; however, the use of infliximab enabled adequate control of the attacks. The visual acuity status during the preoperative stage did not worsen during the postoperative period. No infectious complication was observed in all cases. Conclusions: Our results suggest that infliximab treatment does not complicate any subsequent intraocular surgery. Patients with Behçet’s disease in need of intraocular surgery can benefit from control of attacks with infliximab treatment.

Comparison of LogMAR Eye charts with angular vision for visually impaired: the Berkeley rudimentary vision test vs LogMAR One target Landolt ring Eye chart.

BackgroundIt is not common to quantify visual acuity worse than 2.0 logarithm of the minimal angle resolution (logMAR) (commensurate with decimal visual acuity 0.01) at ophthalmology clinics. Recently, the Berkeley rudimentary vision test (BRVT) was developed as a simple measurement tool of logMAR with angular vision for quantifying poor levels of visual acuity. We compared the difference between BRVT and conventional Landolt ring logMAR chart with angular vision measured by the logMAR one target Landolt ring eye chart (LogMAR LEC).MethodsWe reviewed 110 patients with best-corrected visual acuity (BCVA) in the better eye from light perception (LP) to 0.8 logMAR measured by LogMAR LEC. The reproducibility of the log MAR LEC and BRVT was evaluated on 39 eyes from 20 patients, and 33 eyes from 20 patients respectively. The comparison of logMAR between BRVT and logMAR LEC was evaluated by surveying 61 eyes from 70 patients. In addition, regardless of their BCVA, the eyes from patients with worse than 2.0 logMAR by LogMAR LEC were re-evaluated by BRVT.ResultsThe logMAR of patients examined by BRVT or logMAR LEC did not show any significant difference between the first and second examinations, and there was a strong correlation between the examinations in both eye charts. The BRVT significantly produced better logMAR compared with logMAR LEC, and the strong correlation was shown between both eye charts. Although 35 eyes from 28 patients among 110 patients could not be quantified by logMAR LEC, 18 eyes of 35 eyes could be quantified logMAR by BRVT.ConclusionsThe BRVT and logMAR LEC are reliable visual acuity measurement tools. Moreover, the BRVT is potentially effective in quantifying visual acuity of the more severe visually impaired patients.