Purpose: To describe the clinical and genetic features of Korean patients with peripheral retinal flecks unrelated to aging. Methods: A retrospective analysis was conducted on the clinical characteristics of patients with symmetric peripheral retinal flecks. Age-related deposits such as reticular pseudodrusen were excluded, as well as secondary deposits related to intraocular inflammation, tumor, and drug toxicity. Multimodal imaging, electrophysiological examinations, and genetic testing were analyzed. Results: A total of 10 patients (two men and eight women) with bilateral peripheral flecks were enrolled in this study. A mean age at diagnosis was 30.5 ± 19.6 years (range, 4–59 years). Within the 10 patients, six were genetically confirmed with monogenic retinal disorders. Biallelic pathogenic variants in RDH5 were found in five patients, and one patient was diagnosed with retinopathy related to Alport syndrome due to a pathogenic variant in COL4A5. Although not genetically confirmed, one case associated with nanophthalmos and another case showing chorioretinal mottling in a carrier of ocular albinism have been identified. In one patient, genetic testing also revealed unknown causes. The mean logarithm of the minimum angle of resolution initial visual acuity was 0.12 ± 0.18 and 0.07 ± 0.18 in right and left eyes, respectively. Night blindness was reported by four patients (40%), with three showing decreased or delayed rod response in electroretinogram, particularly those with RDH5 mutations. Differences in the deposit layers and the patterns of flecks were observed on multimodal imaging. Conclusions In the study population, we observed various causes and clinical differences in the retinal fleck patterns among Koreans, including RDH5-related fundus albipunctatus and Alport syndrome. Despite reports of night blindness symptoms in some cases, all patients demonstrated satisfactory corrected visual acuity.

Background: The prevalence of diabetes is increasing globally, highlighting the importance of preventive healthcare. This study aimed to identify the diabetic retinopathy (DR) screening rates and risk factors linked to DR screening nonadherence in the Korean population through a nationally representative sample survey. Methods: Among the Korea National Health and Nutrition Examination Survey database from 2016 to 2021, participants aged ≥ 40 years with diabetes were included. The weighted estimate for nonadherence to DR screening within a year was calculated. Risk factor analyses were conducted using univariate and multivariate logistic regression. Results: Among the 3,717 participants, 1,109 (29.5%) underwent DR screening within the past year, and this national estimate exhibited no statistically significant difference from 2016 to 2021 (P = 0.809). Nonadherence to annual DR screening was associated with residing in rural areas, age ≥ 80 years, low educational level, self-reported good health, absence of ocular disease, current smoking, lack of exercise and dietary diabetes treatment, and no activity limitation (all P < 0.05). Conclusion The recent DR screening rate in Korea was relatively low. Factors associated with apathy and complacency towards personal health were associated with the nonadherence to DR screening. Educational interventions have the potential to enhance the annual screening rate for diabetic patients.

Purpose: To describe the clinical and genetic features of Korean patients with peripheral retinal flecks unrelated to aging. Methods: A retrospective analysis was conducted on the clinical characteristics of patients with symmetric peripheral retinal flecks. Age-related deposits such as reticular pseudodrusen were excluded, as well as secondary deposits related to intraocular inflammation, tumor, and drug toxicity. Multimodal imaging, electrophysiological examinations, and genetic testing were analyzed. Results: A total of 10 patients (two men and eight women) with bilateral peripheral flecks were enrolled in this study. A mean age at diagnosis was 30.5 ± 19.6 years (range, 4–59 years). Within the 10 patients, six were genetically confirmed with monogenic retinal disorders. Biallelic pathogenic variants in RDH5 were found in five patients, and one patient was diagnosed with retinopathy related to Alport syndrome due to a pathogenic variant in COL4A5. Although not genetically confirmed, one case associated with nanophthalmos and another case showing chorioretinal mottling in a carrier of ocular albinism have been identified. In one patient, genetic testing also revealed unknown causes. The mean logarithm of the minimum angle of resolution initial visual acuity was 0.12 ± 0.18 and 0.07 ± 0.18 in right and left eyes, respectively. Night blindness was reported by four patients (40%), with three showing decreased or delayed rod response in electroretinogram, particularly those with RDH5 mutations. Differences in the deposit layers and the patterns of flecks were observed on multimodal imaging. Conclusions In the study population, we observed various causes and clinical differences in the retinal fleck patterns among Koreans, including RDH5-related fundus albipunctatus and Alport syndrome. Despite reports of night blindness symptoms in some cases, all patients demonstrated satisfactory corrected visual acuity.

Purpose: To describe the clinical and genetic features of Korean patients with peripheral retinal flecks unrelated to aging. Methods: A retrospective analysis was conducted on the clinical characteristics of patients with symmetric peripheral retinal flecks. Age-related deposits such as reticular pseudodrusen were excluded, as well as secondary deposits related to intraocular inflammation, tumor, and drug toxicity. Multimodal imaging, electrophysiological examinations, and genetic testing were analyzed. Results: A total of 10 patients (two men and eight women) with bilateral peripheral flecks were enrolled in this study. A mean age at diagnosis was 30.5 ± 19.6 years (range, 4–59 years). Within the 10 patients, six were genetically confirmed with monogenic retinal disorders. Biallelic pathogenic variants in RDH5 were found in five patients, and one patient was diagnosed with retinopathy related to Alport syndrome due to a pathogenic variant in COL4A5. Although not genetically confirmed, one case associated with nanophthalmos and another case showing chorioretinal mottling in a carrier of ocular albinism have been identified. In one patient, genetic testing also revealed unknown causes. The mean logarithm of the minimum angle of resolution initial visual acuity was 0.12 ± 0.18 and 0.07 ± 0.18 in right and left eyes, respectively. Night blindness was reported by four patients (40%), with three showing decreased or delayed rod response in electroretinogram, particularly those with RDH5 mutations. Differences in the deposit layers and the patterns of flecks were observed on multimodal imaging. Conclusions In the study population, we observed various causes and clinical differences in the retinal fleck patterns among Koreans, including RDH5-related fundus albipunctatus and Alport syndrome. Despite reports of night blindness symptoms in some cases, all patients demonstrated satisfactory corrected visual acuity.

Purpose: To describe the clinical and genetic features of Korean patients with peripheral retinal flecks unrelated to aging. Methods: A retrospective analysis was conducted on the clinical characteristics of patients with symmetric peripheral retinal flecks. Age-related deposits such as reticular pseudodrusen were excluded, as well as secondary deposits related to intraocular inflammation, tumor, and drug toxicity. Multimodal imaging, electrophysiological examinations, and genetic testing were analyzed. Results: A total of 10 patients (two men and eight women) with bilateral peripheral flecks were enrolled in this study. A mean age at diagnosis was 30.5 ± 19.6 years (range, 4–59 years). Within the 10 patients, six were genetically confirmed with monogenic retinal disorders. Biallelic pathogenic variants in RDH5 were found in five patients, and one patient was diagnosed with retinopathy related to Alport syndrome due to a pathogenic variant in COL4A5. Although not genetically confirmed, one case associated with nanophthalmos and another case showing chorioretinal mottling in a carrier of ocular albinism have been identified. In one patient, genetic testing also revealed unknown causes. The mean logarithm of the minimum angle of resolution initial visual acuity was 0.12 ± 0.18 and 0.07 ± 0.18 in right and left eyes, respectively. Night blindness was reported by four patients (40%), with three showing decreased or delayed rod response in electroretinogram, particularly those with RDH5 mutations. Differences in the deposit layers and the patterns of flecks were observed on multimodal imaging. Conclusions In the study population, we observed various causes and clinical differences in the retinal fleck patterns among Koreans, including RDH5-related fundus albipunctatus and Alport syndrome. Despite reports of night blindness symptoms in some cases, all patients demonstrated satisfactory corrected visual acuity.