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.