Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution. Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations. Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively). Conclusions EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.

Purpose: To evaluate the characteristics, anatomical success rate, and factors that may affect the anatomical success of rhegmatogenous retinal detachment in patients in their 20s. Methods: We retrospectively analyzed the medical records of patients aged 20-29 years who underwent surgery for rhegmatogenous retinal detachment from January 2018 to December 2022. We examined factors such as sex, age, duration of illness, preoperative best corrected visual acuity, presence of underlying diseases, proliferative vitreoretinopathy, lattice degeneration, macular involvement, extent of retinal detachment at diagnosis, axial length, and myopia level to explore their impact on surgical outcomes. Results: The study included 122 eyes. The mean age was 23.81 ± 2.82 years, and the average sphere power was -5.80 ± 3.71 diopters (D). The percentage of eyes with a refraction of ≤ -6.0 D came to 44.3% (54/122), and with ≤ -4.0 D it amounted to 72.1% (88/122). The average logarithm of the minimum angle of resolution (logMAR) best corrected visual acuity improved significantly from 0.52 ± 0.68 before surgery to 0.28 ± 0.45 after surgery. The primary surgical success rates were 92.0% for scleral buckling, 88.9% for vitrectomy, and 92.3% for combined scleral buckling and vitrectomy, with no significant factors related to anatomical success identified. Conclusions There was a high prevalence of moderate to severe myopia among patients in their 20s with rhegmatogenous retinal detachment. However, no statistically significant correlation was found between the degree of myopia and anatomical success. Both functional and anatomical outcomes were generally favorable in these patients.

Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution. Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations. Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively). Conclusions EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.

Purpose: To evaluate the characteristics, anatomical success rate, and factors that may affect the anatomical success of rhegmatogenous retinal detachment in patients in their 20s. Methods: We retrospectively analyzed the medical records of patients aged 20-29 years who underwent surgery for rhegmatogenous retinal detachment from January 2018 to December 2022. We examined factors such as sex, age, duration of illness, preoperative best corrected visual acuity, presence of underlying diseases, proliferative vitreoretinopathy, lattice degeneration, macular involvement, extent of retinal detachment at diagnosis, axial length, and myopia level to explore their impact on surgical outcomes. Results: The study included 122 eyes. The mean age was 23.81 ± 2.82 years, and the average sphere power was -5.80 ± 3.71 diopters (D). The percentage of eyes with a refraction of ≤ -6.0 D came to 44.3% (54/122), and with ≤ -4.0 D it amounted to 72.1% (88/122). The average logarithm of the minimum angle of resolution (logMAR) best corrected visual acuity improved significantly from 0.52 ± 0.68 before surgery to 0.28 ± 0.45 after surgery. The primary surgical success rates were 92.0% for scleral buckling, 88.9% for vitrectomy, and 92.3% for combined scleral buckling and vitrectomy, with no significant factors related to anatomical success identified. Conclusions There was a high prevalence of moderate to severe myopia among patients in their 20s with rhegmatogenous retinal detachment. However, no statistically significant correlation was found between the degree of myopia and anatomical success. Both functional and anatomical outcomes were generally favorable in these patients.

Purpose: To investigate the genetic characteristics of patients with non-syndromic retinitis pigmentosa (RP) analyzed at a single institution. Methods: We conducted a retrospective analysis of 63 patients clinically diagnosed with non-syndromic RP who underwent genetic testing. The clinical features of patients exhibiting the most common mutations, EYS and USH2A, were further assessed through routine ophthalmic examinations. Results: Of the 63 patients, 22 (34.9%) exhibited significant mutations. Notably, EYS and USH2A mutations were each found in 5 patients (7.9%); RP1 mutations were found in 4 patients (6.3%). The average ages at diagnosis were 38.8 years for EYS mutations and 41.8 years for USH2A mutations. The average best-corrected visual acuities were logMAR 0.08 for EYS mutations and logMAR 0.51 for USH2A mutations. Both mutation types showed a decrease in the normal macular area in fundus photographs with increasing age. In USH2A mutations, optical coherence tomography revealed a more pronounced reduction in central macular thickness and central foveal ellipsoid length compared with EYS mutations. Visual field tests indicated a reduction within the central 10° in 40% of EYS mutations and 60% of USH2A mutations. Electroretinography showed non-detectable responses in 2 individuals with EYS mutations and 4 individuals with USH2A mutations (40% and 80%, respectively). Conclusions EYS and USH2A mutations represented 45% of the genetically identified cases; affected patients typically were diagnosed in their 40s. EYS mutations tended to preserve retinal function and central foveal structure better than USH2A mutations.

Purpose: To evaluate the characteristics, anatomical success rate, and factors that may affect the anatomical success of rhegmatogenous retinal detachment in patients in their 20s. Methods: We retrospectively analyzed the medical records of patients aged 20-29 years who underwent surgery for rhegmatogenous retinal detachment from January 2018 to December 2022. We examined factors such as sex, age, duration of illness, preoperative best corrected visual acuity, presence of underlying diseases, proliferative vitreoretinopathy, lattice degeneration, macular involvement, extent of retinal detachment at diagnosis, axial length, and myopia level to explore their impact on surgical outcomes. Results: The study included 122 eyes. The mean age was 23.81 ± 2.82 years, and the average sphere power was -5.80 ± 3.71 diopters (D). The percentage of eyes with a refraction of ≤ -6.0 D came to 44.3% (54/122), and with ≤ -4.0 D it amounted to 72.1% (88/122). The average logarithm of the minimum angle of resolution (logMAR) best corrected visual acuity improved significantly from 0.52 ± 0.68 before surgery to 0.28 ± 0.45 after surgery. The primary surgical success rates were 92.0% for scleral buckling, 88.9% for vitrectomy, and 92.3% for combined scleral buckling and vitrectomy, with no significant factors related to anatomical success identified. Conclusions There was a high prevalence of moderate to severe myopia among patients in their 20s with rhegmatogenous retinal detachment. However, no statistically significant correlation was found between the degree of myopia and anatomical success. Both functional and anatomical outcomes were generally favorable in these patients.

Purpose: To evaluate the clinical characteristics of Korean patients diagnosed with retinitis pigmentosa. Methods: We retrospectively reviewed the medical records of patients diagnosed with retinitis pigmentosa from January 2014 to December 2019. We evaluated age, gender, the chief complaints, posterior subcapsular cataract status, abnormalities on optical coherence tomography, visual field test results, and electrooculograms. Results: A total of 492 eyes of 246 patients were included. The mean patient age was 48.0 ± 16.0 years and the chief complaints were decreased vision and night blindness. The mean logarithm of the minimal angle of resolution (logMAR) best‐corrected visual acuity (BCVA) was 0.31 ± 0.50. The BCVA was 0.5 or better in 368 eyes (74.8%). A total of 328 (71.0%) of 462 eyes that underwent visual field testing exhibited visual field defects within 10º. The mean Arden ratio was 1.28 ± 0.28 for the 242 eyes that underwent electro‐oculography. Optical coherence tomography revealed vitreomacular traction/an epiretinal membrane, cystoid macular edema, and retinal thinning in 135 (27.4%), 48 (9.8%), and 112 (22.8%) eyes, respectively. The ellipsoid zone was intact in 222 eyes (45.1%), disrupted in 220 (44.7%), and absent in 50 (10.2%). Conclusions Most patients with retinitis pigmentosa exhibited visual acuity of 0.5 or better, but also had central visual field defects. Various abnormalities were noted on optical coherence tomography of most patients.

Purpose: To evaluate the clinical characteristics and courses of Best disease in Korean patients. Methods: We retrospectively reviewed the medical records of patients with Best disease followed-up for more than 12 months after diagnosis. The disease stage and best-corrected visual acuity (BCVA) at diagnosis, and stage progression during follow-up, were evaluated. The BCVA at diagnosis was compared to that at the final follow-up. The BCVA changes were compared between those evidencing stage progression and not. Results: A total of 16 patients (32 eyes) were enrolled. The mean follow-up period was 52.1 ± 31.8 months. At diagnosis, three eyes had stage 1, nine stage 2, seven stage 3, 11 stage 4, and two stage 5 disease. During follow-up, stage progression was observed in nine eyes (28.1%). The mean logarithm of the minimal angle of resolution (logMAR) BCVA significantly worsened from 0.19 ± 0.19 at baseline to 0.30 ± 0.27 at the final follow-up (p = 0.004). In six eyes (18.8%), a deterioration of logMAR 0.2 or greater was noted. The extent of deterioration was greater in the nine eyes (0.25 ± 0.26) exhibiting stage progression than in the 24 eyes (0.05 ± 0.08) lacking such progression (p = 0.001). Conclusions The visual acuity of Best disease patients was relatively good at diagnosis. However, stage progression and visual deterioration were noted in some patients. Stage progression was associated with a poor visual prognosis.

Purpose: To evaluate the clinical characteristics and courses of Best disease in Korean patients. Methods: We retrospectively reviewed the medical records of patients with Best disease followed-up for more than 12 months after diagnosis. The disease stage and best-corrected visual acuity (BCVA) at diagnosis, and stage progression during follow-up, were evaluated. The BCVA at diagnosis was compared to that at the final follow-up. The BCVA changes were compared between those evidencing stage progression and not. Results: A total of 16 patients (32 eyes) were enrolled. The mean follow-up period was 52.1 ± 31.8 months. At diagnosis, three eyes had stage 1, nine stage 2, seven stage 3, 11 stage 4, and two stage 5 disease. During follow-up, stage progression was observed in nine eyes (28.1%). The mean logarithm of the minimal angle of resolution (logMAR) BCVA significantly worsened from 0.19 ± 0.19 at baseline to 0.30 ± 0.27 at the final follow-up (p = 0.004). In six eyes (18.8%), a deterioration of logMAR 0.2 or greater was noted. The extent of deterioration was greater in the nine eyes (0.25 ± 0.26) exhibiting stage progression than in the 24 eyes (0.05 ± 0.08) lacking such progression (p = 0.001). Conclusions The visual acuity of Best disease patients was relatively good at diagnosis. However, stage progression and visual deterioration were noted in some patients. Stage progression was associated with a poor visual prognosis.

PURPOSE: To evaluate clinical outcomes of idiopathic epiretinal membrane removal in patients ≥ 80 years of age.METHODS: A retrospective review of medical records was performed with 56 patients who underwent vitrectomy and removal of idiopathic epiretinal membrane. In the ≥ 80 years of age group (n = 28), the best-corrected visual acuity (BCVA) and central macular thickness (CMT) before surgery were compared with those at the final follow-up. The amount of change in the BCVA after surgery was also compared between the ≥ 80 years of age group and the < 80 years of age group (n = 28).RESULTS: In the ≥ 80 years of age group, the mean follow-up period was 19.1 ± 17.0 months. Before surgery, 11 eyes were pseudophakic and 17 eyes were phakic. Combined cataract surgery was performed with epiretinal membrane removal in all 17 phakic eyes. The mean logarithm of the minimal angle of resolution BCVA was 0.75 ± 0.30 before surgery, which improved to 0.50 ± 0.30 at the final follow-up (p < 0.001). The CMT was 458.0 ± 79.7 µm before surgery, which decreased to 367.2 ± 83.4 µm at the final follow-up (p < 0.001). There was no significant difference in the amount of change in the BCVA after the surgery between the ≥ 80 years of age group and the < 80 years of age group (p = 0.547).CONCLUSIONS: In patients with idiopathic epiretinal membrane who were ≥ 80 years of age, the visual acuity was improved or maintained, and was accompanied with anatomical improvement after epiretinal membrane removal with or without cataract surgery. These results suggest the usefulness of epiretinal membrane removal in older patients.
Cataract ; Epiretinal Membrane ; Follow-Up Studies ; Humans ; Medical Records ; Retrospective Studies ; Visual Acuity ; Vitrectomy