谷川 篤宏

Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees. The first and second most frequently mutated genes were EYS and RP1, associated primarily with autosomal recessive (ar) RP, and RP and arMD/CORD, respectively. Examinations of variant frequency in total and by phenotype showed high accountability of a frequent EYS missense variant (c.2528G>A). In addition to the two known EYS founder mutations (c.4957dupA and c.8805C>G) of arRP, we observed a frequent RP1 variant (c.5797C>T) in patients with arMD/CORD.

PURPOSE: To investigate the efficacy of modified internal limiting membrane (ILM) flap technique combined with vitreous surgery for treating macular holes and examine the outcomes in visual function and anatomic macular hole closure. STUDY DESIGN: Retrospective, observational. METHODS: Between July 1, 2015, and October 1, 2019, the modified inverted ILM flap technique combined with vitreous surgery was used to treat idiopathic macular holes, postoperative progression was then followed for at least 6 months in 96 participants (98 eyes). We modified the method by removing the lower half of the ILM while peeling and inverting the upper half. The mean age of the participants was 65.9 ± 11.9 years (41 men (42.7%) and 55 women (57.3%)). Retrospective evaluations of macular hole diameter, corrected visual acuity, and macular hole closure rates were performed using data from medical records. RESULTS: The mean macular hole diameter was 623.6 ± 207.4 μm. The mean corrected visual acuity (logMAR) was 0.79 ± 0.27 before surgery and 0.46 ± 0.35 at 1, 0.35 ± 0.39 at 3, and 0.31 ± 0.36 at 6 months Post surgery, showing significant differences before and after surgery (p = 2.30 × 10- 2). The macular hole closure rate was 98%. CONCLUSION: The modified inverted ILM flap technique combined with vitreous surgery was an effective method for treating macular holes, resulting in improvement in closure and visual acuity.

OBJECTIVES: The purpose of this study was to examine the incidence of, and risk factors for, epiretinal membrane (ERM) surgery after an initial pars plana vitrectomy (PPV) for rhegmatogenous retinal detachment (RRD). METHODS: The records of consecutive patients (3,495 eyes of 3,387 patients) who underwent RRD repair at Fujita Health University Hospital between January 1, 2008, and February 28, 2019, were retrospectively reviewed. A total of 1,736 eyes without an ERM in preoperative optical coherence tomography were included in this study. RESULTS: The incidence of ERM surgery after RRD repair was 2.4%. The mean time from RRD repair to ERM surgery was 19.5±27.2 months. The odds ratios after adjusting for age and sex were as follows: the preoperative visual acuity (logarithm of the minimum angle of resolution, logMAR), 2.17 (p=0.02; 95% confidence interval [CI], 1.11-5.16); axial length, 1.38 (p=0.002; 95% CI, 1.12-1.72); 20-gauge vitreous surgery instruments, 3.82 (p<0.0001; 95% CI, 2.02-7.16); internal limiting membrane (ILM) peeling, 0.28 (p=0.033; 95% CI, 0.05-0.92). ERM surgery improved visual acuity from 0.36 to 0.01 logMAR, even at ≥1.5 years after RRD repair. CONCLUSIONS: Careful follow-up is required in the following cases: long axial length before RRD repair, low visual acuity, use of 20-gauge vitreous surgery instruments, and a lack of ILM peeling.

We report a case of Fabry disease diagnosed after recurrent cerebral infarction in a patient with central retinal artery occlusion (CRAO). A 23-year-old man presented with vision loss in his right eye (20/2000), showing CRAO. There was no identified cause for the loss of vision; however, corneal verticillata was detected in both eyes on the recurrence of the cerebral infarction. The α-galactosidase activity in leukocytes was significantly reduced to <0.3 nmol/mg of protein/hour, leading to a definitive diagnosis of Fabry disease. Enzyme replacement therapy was commenced concomitant to rehabilitation. It is necessary to identify Fabry disease as a cause of CRAO in young individuals, and the detection of cornea verticillata, used frequently as an ocular finding, is helpful.

PURPOSE: We report a case of neuroretinitis associated with cat scratch disease (CSD) in young children. METHOD: Case report. RESULTS: A 16-month-old boy was admitted for a detailed examination and treatment of a fever of unknown origin. Blood tests revealed no significant findings other than a white blood cell count of 16,100/mm3 and C-reactive protein level of 9.89 mg/dL. Computed tomography revealed no relevant findings to determine the causative disease. Antibiotic therapy with cefotaxime was initiated; however, the fever did not resolve. The patient was referred to our department for further examination to detect the cause of the fever. Fundoscopy revealed neuroretinitis in the right eye. His mother reported a history of breeding cats. Cat scratch disease (CSD) was suspected based on the clinical course and fundus findings. Cefotaxime was discontinued, and azithromycin, rifampicin, and prednisolone were administered, following which the fever disappeared and fundus findings improved. Immunoglobulin G (IgG) and IgM antibodies against Bartonella henselae was positive, leading to a definitive diagnosis of CSD. CONCLUSION: Infants cannot complain of decreased visual acuity; therefore, these findings may be overlooked unless a fundus examination is performed. As in this case, the early detection of neuroretinitis by an ophthalmologist may help in the diagnosis of CSD. It is extremely difficult to capture a photograph of the fundus of an infant, and recording with a smartphone is relatively simple and useful for monitoring continuous changes. Summary. We describe a case of neuroretinitis associated with cat scratch disease (CSD) that was diagnosed on the basis of fundus findings. The findings suggest the importance of an aggressive ophthalmologic examination when CSD is suspected in young children who are unable to describe their symptoms.