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1.
Mol Vis ; 30: 58-66, 2024.
Article in English | MEDLINE | ID: mdl-38601016

ABSTRACT

Purpose: Pathogenic variants in North Carolina macular dystrophy (NCMD) have rarely been reported in the East Asian population. Herein, we reported novel variants of NCMD in 2 Korean families. Methods: The regions associated with NCMD were analyzed with genome sequencing, and variants were filtered based on the minor allele frequency (0.5%) and heterozygosity. Non-coding variants were functionally annotated using multiple computational tools. Results: We identified two rare novel variants, chr6:g.99,598,914T>C (hg38; V17) and chr6:g.99,598,926G>A (hg38; V18) upstream of PRDM13 in families A and B, respectively. In Family 1, Grade 2 NCMD and a best-corrected visual acuity of 20/25 and 20/200 in the right and left eyes, respectively, were observed. In Family B, all affected individuals had Grade 1 NCMD with characteristic confluent drusen at the fovea and a best-corrected visual acuity of 20/20 in both eyes. These two variants are 10-22 bp downstream of the reported V10 variant within the DNase1 hypersensitivity site. This site is associated with progressive bifocal chorioretinal atrophy and congenital posterior polar chorioretinal hypertrophy and lies in the putative enhancer site of PRDM13. Conclusion: We identified two novel NCMD variants in the Korean population and further validated the regulatory role of the DNase1 hypersensitivity site upstream of PRDM13.


Subject(s)
Corneal Dystrophies, Hereditary , Humans , Corneal Dystrophies, Hereditary/genetics , Fovea Centralis , Nucleotides , Pedigree , Republic of Korea
2.
Ophthalmology ; 2024 Jul 30.
Article in English | MEDLINE | ID: mdl-39089371

ABSTRACT

PURPOSE: To determine the association between pentosan polysulfate (PPS) use and the subsequent development of maculopathy in an Asian population. DESIGN: A nationwide, population-based retrospective cohort study using the Health Insurance Review and Assessment Service database. PARTICIPANTS: A total of 103 553 individuals in the PPS user group and 205 792 individuals in the PPS nonuser group, all newly diagnosed with cystitis between 2009 and 2020. METHODS: The association between PPS use and maculopathy was evaluated using a time-dependent Cox proportional hazard model. Additionally, 2 sensitivity analyses were conducted by defining PPS users as individuals with an observation period over 6 months from the initial prescription or those with a cumulative dose exceeding 9 g, using the same analysis. MAIN OUTCOME MEASURES: The outcome measures included the hazard ratios (HRs) representing the association between PPS use and maculopathy. RESULTS: Use of PPS was associated with an increased risk of subsequent maculopathy in univariate (HR, 1.7; 95% confidence interval [CI], 1.66-1.75) and multivariate analysis (HR, 1.34; 95% CI, 1.31-1.38). These results were also confirmed in 2 sensitivity analyses. The mean cumulative dose of PPS for the cohort was 37.2 ± 76.7 g. CONCLUSIONS: In this nationwide cohort study involving an Asian population, individuals with cystitis using PPS exhibit an increased risk of developing subsequent maculopathy. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

3.
Graefes Arch Clin Exp Ophthalmol ; 262(4): 1351-1359, 2024 Apr.
Article in English | MEDLINE | ID: mdl-37947821

ABSTRACT

PURPOSE: This study aimed to analyze the genetic results of inherited retinal diseases (IRDs) and evaluate the diagnostic usefulness of whole genome sequencing (WGS) in the Korean National Project of Bio Big Data. METHODS: As part of the Korean National Project of Bio Big Data, WGS was performed on 32 individuals with IRDs with no identified pathogenic variants through whole or targeted exome sequencing. RESULTS: Individuals with retinitis pigmentosa (n = 23), cone dystrophy (n = 2), cone-rod dystrophy (n = 2), familial exudative vitreoretinopathy (n = 2), pigmented paravenous chorioretinal atrophy (n = 1), North Carolina macular dystrophy (n = 1), and bull's-eye macular dystrophy (n = 1) were included. WGS revealed genetic mutations in the IQCB1, PRPF31, USH2A, and GUCY2D genes in five cases (15.6%). Two large structural variations and an intronic variant were newly detected in three cases. Two individuals had biallelic missense mutations that were not identified in previous exome sequencing. CONCLUSION: With WGS, the causative variants in 15.6% of unsolved IRDs from the Korean National Project of Bio Big Data were identified. Further research with a larger cohort might unveil the diagnostic usefulness of WGS in IRDs and other diseases.


Subject(s)
Retinal Diseases , Retinal Dystrophies , Humans , Big Data , Pedigree , Retinal Diseases/diagnosis , Retinal Diseases/genetics , Mutation , Whole Genome Sequencing , Republic of Korea/epidemiology , DNA Mutational Analysis , Retinal Dystrophies/diagnosis , Calmodulin-Binding Proteins/genetics
4.
Graefes Arch Clin Exp Ophthalmol ; 262(9): 2845-2850, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38578333

ABSTRACT

PURPOSE: This study aimed to evaluate changes in intraocular pressure following intravitreal dexamethasone implant injection, specifically in patients undergoing glaucoma filtration surgery. METHODS: The degree of increase in intraocular pressure was compared retrospectively among three groups. Group 1 comprised patients who underwent prior glaucoma filtration surgery (54 eyes). Group 2 included patients with or suspected glaucoma without such surgical history (20 eyes). Group 3 included patients without glaucoma (33 eyes). Pressure measurements were taken before the injection and at 1, 2, 3, and 6 months post-injection. A subgroup analysis was performed for pressure > 35 mmHg, > 30 mmHg, > 25 mmHg, and a difference > 10 mmHg between the peak and baseline pressure. RESULTS: Group 1 consistently displayed lower pressures compared with Group 2, with significant difference at both 1- and 6-month post-injections (15.09 mmHg vs. 18.10 mmHg, P = 0.042 and 13.91 mg vs. 17.25 mmHg, P = 0.040). The proportion of patients in Group 1 and Group 3 with pressures > 25 mmHg, > 30 mmHg, and a difference > 10 mmHg did not significantly differ (15.6% vs. 9.5%, P = 0.231; 3.1% vs. 2.3%, P = 0.867; and 17.1% vs. 7.1%, P = 0.231). Notably, Group 2 exhibited a significantly higher proportion within each category (> 25 mmHg, 24.0%; > 30 mmHg, 20.0%; > 10 mmHg difference, 28.0%). CONCLUSION: Intravitreal dexamethasone implant did not increase the risk of elevated intraocular pressure in patients with a history of glaucoma filtration surgery compared with patients with suspected glaucoma; the risk was similar to those without glaucoma.


Subject(s)
Dexamethasone , Drug Implants , Filtering Surgery , Glaucoma , Glucocorticoids , Intraocular Pressure , Intravitreal Injections , Humans , Dexamethasone/administration & dosage , Intraocular Pressure/physiology , Intraocular Pressure/drug effects , Retrospective Studies , Glucocorticoids/administration & dosage , Female , Male , Aged , Filtering Surgery/methods , Glaucoma/surgery , Glaucoma/physiopathology , Follow-Up Studies , Middle Aged , Tonometry, Ocular , Visual Acuity
5.
Retina ; 44(9): 1633-1638, 2024 09 01.
Article in English | MEDLINE | ID: mdl-39167584

ABSTRACT

PURPOSE: To identify longitudinal retinal layer thickness changes in normal eyes of cognitively healthy elderly people. METHODS: Post hoc analysis was performed on 57 cognitively healthy elderly participants from the population-based Korean Longitudinal Study on Health and Aging and Korean Longitudinal Study on Cognitive Aging and Dementia cohort studies who underwent baseline and final optical coherence tomography scans. The peripapillary retinal nerve fiber layer, subfoveal choroid, and average retinal layer thickness at four quadrant (nasal, temporal, superior, and inferior) points 1 mm, 2 mm, and 3 mm from the center of the fovea were measured. RESULTS: The mean age of subjects was 75.1 years and the mean follow-up period was 55.9 months. Among the analyzed retinal layers, both the ganglion cell-inner plexiform layer and the outer nuclear layer at all 1 mm, 2 mm, and 3 mm points showed a statistically significant decrease in thickness at the final visit compared with baseline. The annual decrease rates were -1.2 µm/year at 1 mm (total -6.6%), -1.3 µm/year at 2 mm (total -8.4%), and -1.1 µm/year at 3 mm (total -9.7%) for ganglion cell-inner plexiform layer and -0.6 µm/year at 1 mm (total -4.2%), -0.5 µm/year at 2 mm (total -3.9%), and -0.4 µm/year at 3 mm (total -4.1%) for outer nuclear layer. CONCLUSION: Aging plays a significant role in the reduction of ganglion cell-inner plexiform layer and outer nuclear layer thicknesses in cognitively healthy elderly individuals.


Subject(s)
Nerve Fibers , Retinal Ganglion Cells , Tomography, Optical Coherence , Humans , Aged , Female , Male , Tomography, Optical Coherence/methods , Retinal Ganglion Cells/pathology , Aged, 80 and over , Follow-Up Studies , Cognition/physiology , Retina/diagnostic imaging , Retina/anatomy & histology , Longitudinal Studies , Republic of Korea , Aging/physiology
6.
Retina ; 44(5): 799-809, 2024 05 01.
Article in English | MEDLINE | ID: mdl-38261829

ABSTRACT

PURPOSE: To investigate the efficacy, safety, and indications for additional pneumatic retinopexy (PR) in patients with persistent retinal detachment after scleral buckling. METHODS: This retrospective study included patients who underwent additional PR after scleral buckling for primary rhegmatogenous retinal detachment (n = 78). We defined "inadequate buckle" as retinal detachment persistence because of low buckle height despite accurate buckle placement and "buckle misplacement" as an uncovered tear because of incorrect buckle placement. RESULTS: The anatomical success rate after additional PR was 52.6%. Development of proliferative vitreoretinopathy Grade B (hazard ratio, 5.73; P < 0.001) and inferior retinal tears (hazard ratio, 2.12; P = 0.040) were significant risk factors for anatomical failure. The most common cause of anatomical failure was proliferative vitreoretinopathy (19 of 37; 51.4%), and epiretinal membrane formation was a common complication after additional PR (22 of 78; 28.2%). The anatomical success rate with additional PR was significantly higher in the inadequate buckle group than in the misplacement group (8 of 9 [88.9%] vs. 1228 [42.9%]; P = 0.023). CONCLUSION: Development of proliferative vitreoretinopathy Grade B and inferior retinal tears were significantly associated with anatomical failure after additional PR. Additional PR may benefit patients with superior retinal tears or low buckle height and those without proliferative vitreoretinopathy.


Subject(s)
Retinal Detachment , Scleral Buckling , Visual Acuity , Humans , Retinal Detachment/surgery , Retinal Detachment/etiology , Retinal Detachment/diagnosis , Scleral Buckling/methods , Retrospective Studies , Male , Female , Middle Aged , Adult , Aged , Reoperation , Endotamponade/methods , Retinal Perforations/surgery , Retinal Perforations/etiology , Retinal Perforations/diagnosis , Postoperative Complications , Vitreoretinopathy, Proliferative/surgery , Vitreoretinopathy, Proliferative/etiology , Vitreoretinopathy, Proliferative/diagnosis
7.
Retina ; 44(9): 1486-1494, 2024 09 01.
Article in English | MEDLINE | ID: mdl-39167570

ABSTRACT

PURPOSE: To investigate the significance of intravitreal anti-vascular endothelial growth factor treatment in patients with neovascular age-related macular degeneration and poor visual acuity. METHODS: Retrospective study of patients with neovascular age-related macular degeneration with baseline best-corrected visual acuity of ≤20/200. Patients were divided into regular treatment and scarce treatment groups according to whether they underwent consecutive intravitreal anti-vascular endothelial growth factor treatments at intervals of ≤4 months or not. RESULTS: A total of 131 eyes were included: 87 and 44 eyes in the regular treatment and scarce treatment groups, respectively. The regular treatment group showed significantly improved preservation of lesion size at both Years 1 and 2, with significantly fewer incidences of new subretinal hemorrhage. Improvements in visual acuity, reduction in central subfield macular thickness, and maximal height of choroidal neovascularization were significantly favorable in the regular treatment group at Year 1, and central subfield macular thickness was significantly decreased at Year 2. Survival analysis revealed that the regular treatment group had significantly greater preservation of visual acuity and lesion size than that in the scarce treatment group. CONCLUSION: Maintaining intravitreal anti-vascular endothelial growth factor treatment for patients with neovascular age-related macular degeneration and poor vision showed significant advantages in visual acuity and lesion size stability and reduced the incidence of new subretinal hemorrhage, which suggests preservation of paracentral vision.


Subject(s)
Angiogenesis Inhibitors , Bevacizumab , Intravitreal Injections , Ranibizumab , Tomography, Optical Coherence , Vascular Endothelial Growth Factor A , Visual Acuity , Wet Macular Degeneration , Humans , Visual Acuity/physiology , Angiogenesis Inhibitors/administration & dosage , Angiogenesis Inhibitors/therapeutic use , Retrospective Studies , Male , Female , Vascular Endothelial Growth Factor A/antagonists & inhibitors , Aged , Wet Macular Degeneration/drug therapy , Wet Macular Degeneration/physiopathology , Wet Macular Degeneration/diagnosis , Ranibizumab/administration & dosage , Aged, 80 and over , Bevacizumab/administration & dosage , Bevacizumab/therapeutic use , Fluorescein Angiography , Follow-Up Studies
8.
Ophthalmic Res ; 67(1): 9-22, 2024.
Article in English | MEDLINE | ID: mdl-38091967

ABSTRACT

INTRODUCTION: The objective of this study was to investigate the clinical characteristics and genetic spectrum of adult-onset cone/cone-rod dystrophy (AOCD/AOCRD) in Korean individuals. METHODS: This is a single-center, retrospective cross-sectional study. We analyzed 22 individuals with genetically confirmed cone dystrophy, with symptoms beginning after 30 years of age. All patients underwent comprehensive ophthalmic and electrophysiological examinations. Exome sequencing of 296 genes associated with inherited retinal disease was performed. The clinical features of patients with AOCD/AOCRD and the causative genes and variants detected by exome sequencing were analyzed. RESULTS: The median age at the first visit was 52 years (range, 31-76 years), and the most common initial symptom was reduced visual acuity. In most cases, fundus photography showed a bull's eye pattern with foveal sparing, consistent with perifoveal photoreceptor loss on optical coherence tomography. We identified disease-causing variants in six genes: RP1, CRX, CDHR1, PROM1, CRB1, and GUCY2D. Pathogenic variants in RP1, CRX, and CDHR1 were identified in 77% of the AOCD/AOCRD cases, including p.Cys1399LeufsTer5, p.Arg1933Ter, and p.Ile2061SerfsTer12 in RP1; p.Ter300GlnextTer118 in CRX; and p.Glu201Lys in CDHR1. No characteristic imaging differences were observed for any of the causative genes. Most of the RP1-related AOCD/AOCRD cases showed a decreased amplitude only in the photopic electroretinogram (ERG), whereas CRX-related AOCD/AOCRD cases showed a slightly decreased amplitude in both the scotopic and photopic ERGs. CONCLUSION: In case of visual impairment with bull's eye pattern of RPE atrophy recognized after the middle age, a comprehensive ophthalmic examination and genetic test should be considered, with the possibility of AOCD/AOCRD in East Asians.


Subject(s)
Cone-Rod Dystrophies , Adult , Middle Aged , Humans , Aged , Cone-Rod Dystrophies/diagnosis , Cone-Rod Dystrophies/genetics , Cone-Rod Dystrophies/pathology , Retrospective Studies , Cross-Sectional Studies , Pedigree , Mutation , Electroretinography , Tomography, Optical Coherence , Phenotype , Eye Proteins/genetics , Membrane Proteins/genetics , Nerve Tissue Proteins/genetics , Cadherin Related Proteins
9.
Ophthalmic Res ; 67(1): 594-599, 2024.
Article in English | MEDLINE | ID: mdl-39326395

ABSTRACT

INTRODUCTION: This study was conducted to assess the systemic pharmacokinetic profiles of half-dose verteporfin photodynamic therapy (PDT) using concentration data from a previous clinical trial and to subsequently suggest safety precaution guidelines. METHODS: Coefficients for the bi-exponential model were obtained from published data on post-infusion plasma verteporfin concentrations within a period of 0.17-4 h. Using the extrapolative forecasting method, we plotted the 48-h post-verteporfin plasma concentration model. The time required to achieve a comparable level of verteporfin 48 h after a conventional dose (6 mg/m2 body surface area, BSA) infusion was calculated for a half-dose infusion (3 mg/m2 BSA). RESULTS: At 24 and 48 h post-verteporfin infusion, the plasma concentration following the conventional dose was 1.28 × 10-4 µg/mL and 5.06 × 10-8 µg/mL, compared to 3.57 × 10-5 µg/mL and 7.54 × 10-9 µg/mL for the half-dose PDT, representing concentrations that were 3.6 times and 6.7 times higher, respectively. The estimated time required to attain the same level of verteporfin 48 h after a conventional dose was calculated as 42-h post-half-dose PDT. CONCLUSIONS: The results of this study indicate that precautionary measures should be taken to avoid sunlight following both half and conventional doses of PDT during the similar post-treatment periods of two days. Nevertheless, given the substantially higher plasma concentration levels associated with conventional-dose PDT compared with the half-dose, systemic safety should be carefully considered when administering conventional-dose PDT.


Subject(s)
Photochemotherapy , Photosensitizing Agents , Verteporfin , Verteporfin/pharmacokinetics , Verteporfin/administration & dosage , Humans , Photochemotherapy/methods , Photosensitizing Agents/pharmacokinetics , Photosensitizing Agents/administration & dosage , Male , Macular Degeneration/drug therapy , Female , Porphyrins/pharmacokinetics , Porphyrins/administration & dosage , Dose-Response Relationship, Drug
10.
J Korean Med Sci ; 39(27): e203, 2024 Jul 15.
Article in English | MEDLINE | ID: mdl-39015001

ABSTRACT

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.


Subject(s)
Diabetic Retinopathy , Mass Screening , Nutrition Surveys , Humans , Diabetic Retinopathy/diagnosis , Diabetic Retinopathy/epidemiology , Republic of Korea/epidemiology , Female , Male , Middle Aged , Aged , Adult , Risk Factors , Aged, 80 and over , Logistic Models , Prevalence , Odds Ratio
11.
Int J Mol Sci ; 25(15)2024 Jul 27.
Article in English | MEDLINE | ID: mdl-39125773

ABSTRACT

X-linked juvenile retinoschisis (XLRS) is a hereditary retinal degeneration affecting young males caused by mutations in the retinoschisin (RS1) gene. We generated human induced pluripotent stem cells (hiPSCs) from XLRS patients and established three-dimensional retinal organoids (ROs) for disease investigation. This disease model recapitulates the characteristics of XLRS, exhibiting defects in RS1 protein production and photoreceptor cell development. XLRS ROs also revealed dysregulation of Na/K-ATPase due to RS1 deficiency and increased ERK signaling pathway activity. Transcriptomic analyses of XLRS ROs showed decreased expression of retinal cells, particularly photoreceptor cells. Furthermore, relevant recovery of the XLRS phenotype was observed when co-cultured with control ROs derived from healthy subject during the early stages of differentiation. In conclusion, our in vitro XLRS RO model presents a valuable tool for elucidating the pathophysiological mechanisms underlying XLRS, offering insights into disease progression. Additionally, this model serves as a robust platform for the development and optimization of targeted therapeutic strategies, potentially improving treatment outcomes for patients with XLRS.


Subject(s)
Eye Proteins , Induced Pluripotent Stem Cells , Organoids , Retina , Retinoschisis , Humans , Retinoschisis/genetics , Retinoschisis/metabolism , Retinoschisis/pathology , Organoids/metabolism , Organoids/pathology , Induced Pluripotent Stem Cells/metabolism , Male , Eye Proteins/genetics , Eye Proteins/metabolism , Retina/metabolism , Retina/pathology , Cell Differentiation/genetics , Models, Biological
12.
Curr Ther Res Clin Exp ; 100: 100742, 2024.
Article in English | MEDLINE | ID: mdl-38617894

ABSTRACT

Background: Concerns of intraocular inflammation associated with intravitreal administration of anti-VEGF drugs have been risen and the exact mechanism is not yet elucidated. Objective: To explore the relationship between immunogenicity and intraocular inflammation in intravitreal anti-VEGF drugs. Methods: This review examines the immunogenicity of individual intravitreal anti-VEGF drugs and their potential link to intraocular inflammation. Results: We suggest that the main cause of intraocular inflammation is the presence of pre-existing and treatment-induced antidrug antibodies, along with considerations related to the molecular structure, which includes the drug's format and size. Conclusions: Researchers and clinicians involved in the advancement of new anti-VEGF drugs should take into consideration the factors related to intraocular inflammation that have been discussed.

13.
Rheumatology (Oxford) ; 62(5): 1895-1902, 2023 05 02.
Article in English | MEDLINE | ID: mdl-36102793

ABSTRACT

OBJECTIVE: To compare the risk of blindness and vision-threatening ocular comorbidities in patients with Behçet's disease (BD) vs the general population. METHODS: Using 2002-2017 Korea National Health Insurance Service database, we did a population-based cohort study comparing newly diagnosed BD patients and age- and sex-matched non-BD controls at a 1:5 ratio. The primary outcome was blindness, defined as a best-corrected visual acuity of ≤20/500 in the better-seeing eye. Secondary outcomes were vision-threatening ocular comorbidities (cataract, glaucoma and retinal disorders) that require surgical interventions and incident uveitis. Cox proportional hazards models were used to estimate hazard ratios (HRs) and 95% CIs. We performed subgroup analyses by sex and BD diagnosis age. RESULTS: We included 31 228 BD patients and 156 140 controls. During a follow-up of 9.39 years, the incidence rate of blindness per 1000 person-years was 0.24 in BD and 0.02 in controls with an HR of 10.73 (95% CI 7.10, 16.22). The HR for secondary outcomes was 2.06 (95% CI 1.98, 2.15) for cataract surgery, 5.43 (4.57, 6.45) for glaucoma surgery and 2.71 (2.39, 3.07) for retinal surgery. The HR of incident uveitis was 6.19 (95% CI 5.83, 6.58). Males suffered a disproportionately higher risk of blindness than females due to greater severity rather than a lower incidence of uveitis. The risk of uveitis and blindness decreased as BD diagnosis age increased. CONCLUSIONS: In this large population-based cohort study, BD patients compared with the general population have a 10.73-fold risk of blindness in 10 years and also a substantially higher risk of diverse ocular comorbidities that pose potential threats to vision.


Subject(s)
Behcet Syndrome , Cataract , Glaucoma , Uveitis , Male , Female , Humans , Behcet Syndrome/complications , Cohort Studies , Uveitis/etiology , Glaucoma/complications , Glaucoma/epidemiology , Blindness/complications , Cataract/complications , Retrospective Studies
14.
Doc Ophthalmol ; 147(3): 211-216, 2023 12.
Article in English | MEDLINE | ID: mdl-37668859

ABSTRACT

PURPOSE: To characterize the genotype and phenotype of a patient with CAPN5-related neovascular inflammatory vitreoretinopathy (NIV) who have undergone surgery for macular holes. METHODS: We observed a patient presenting with retinitis pigmentosa and posterior uveitis who later developed vitreoretinal macular traction and a macular hole. Genetic testing was performed using a targeted gene panel. Fundus photography and spectral-domain optical coherence tomography were also performed. RESULTS: In a targeted gene panel, a monoallelic pathogenic variant, c.750G > T, p.Lys250Asn, in the CAPN5 gene was identified, and CAPN5-NIV was diagnosed. At the first visit, peripheral retinal degeneration and mild posterior uveitis were observed. At that time, neovascularization, epiretinal or fibrous membranes were not observed. After 5 years, vitreomacular traction developed and progressed to a full-thickness macular hole in both eyes. After pars plana vitrectomy, the macular hole was successfully closed without aggravation of uveitis. CONCLUSION: In this case, a pathogenic variant of CAPN5 lead to a distinct phenotype of retinitis pigmentosa, posterior uveitis, vitreomacular traction, and macular hole without typical inflammatory neovascularization or tractional membranes. Therefore, the clinical variability of CAPN5-NIV and genetic diagnosis should be considered in cases of atypical retinitis pigmentosa with bilateral macular hole.


Subject(s)
Retinal Perforations , Retinitis Pigmentosa , Uveitis, Posterior , Humans , Retinal Perforations/diagnosis , Retinal Perforations/etiology , Retinal Perforations/surgery , Electroretinography , Retina , Vitrectomy/methods , Tomography, Optical Coherence/methods , Retinitis Pigmentosa/diagnosis , Retinitis Pigmentosa/genetics , Vision Disorders , Retrospective Studies
15.
Graefes Arch Clin Exp Ophthalmol ; 261(7): 1893-1900, 2023 Jul.
Article in English | MEDLINE | ID: mdl-36749440

ABSTRACT

PURPOSE: This study aims to investigate the association between incident central retinal artery occlusion (CRAO) and the subsequent development of cancer. METHODS: We included incident CRAO patients from the 2002-2013 National Health Insurance Service database in South Korea. For the patient cohort, we included patients diagnosed with CRAO from the database, and excluded patients having CRAO or any cancer history during the first 2-year washout period (2002-2003). Then, we defined their 1:4 propensity-score matched non-CRAO subjects as controls, all of whom also had no history of cancer during the washout period. Time-varying covariate Cox regression models were conducted to determine the association of CRAO with cancer. Kaplan-Meier curves with log-rank test were also analyzed. RESULTS: A total of 9712 patients with CRAO and 38,848 controls were included in the study. CRAO was associated with an increased risk of subsequent cancer (hazard ratio = 1.27; 95% confidence interval, 1.19-1.35). The incidence rate of overall cancer during the study period was 29.12 per 1000 person-years in the CRAO group and 22.77 per 1000 person-years in the control group. Incidence probability of overall cancer was significantly higher among CRAO patients than controls (P < 0.001, log-rank test). CONCLUSION: The risk of cancer occurrence was increased in patients with CRAO. The results supported that CRAO could be attributed to one of the consequences of arterial thrombosis in cancer patients.


Subject(s)
Neoplasms , Retinal Artery Occlusion , Humans , Cohort Studies , Retinal Artery Occlusion/complications , Retinal Artery Occlusion/diagnosis , Retinal Artery Occlusion/epidemiology , Neoplasms/complications , Neoplasms/diagnosis , Neoplasms/epidemiology , Republic of Korea/epidemiology , Retrospective Studies
16.
Graefes Arch Clin Exp Ophthalmol ; 261(9): 2477-2488, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37022494

ABSTRACT

PURPOSE: To determine whether 14 inflammation-, angiogenesis-, and adhesion-related proteins in cord blood (CB), alone or in combination with conventional perinatal factors, could predict retinopathy of prematurity (ROP) in preterm infants. METHODS: Data from 111 preterm infants (born at ≤ 32.0 weeks) were retrospectively reviewed. The levels of endoglin, E-selectin, HSP70, IGFBP-3/4, LBP, lipocaline-2, M-CSFR, MIP-1α, pentraxin 3, P-selectin, TGFBI, TGF-ß1, and TNFR2 were assessed in stored CB samples collected at birth using ELISA kits. The primary endpoints included severe ROP (≥ stage 3) and type 1 ROP requiring treatment. RESULTS: ROP was diagnosed in 29 infants (26.1%), among whom 14 (12.6%) had severe ROP and seven (6.3%) had type 1 ROP. Multivariate logistic regression showed that decreased CB TGFBI levels were significantly associated with severe ROP and type 1 ROP after adjusting for gestational age at birth. Stepwise regression analysis allowed to design prediction models with good accuracy, which comprised low CB TGFBI levels and low birth weight (BW) as predictors for severe ROP (area under the curve [AUC] = 0.888), and low CB endoglin levels and low BW as predictors for type 1 ROP (AUC = 0.950). None of the other CB proteins evaluated were found to be associated with severe ROP or type 1 ROP. CONCLUSIONS: Low CB TGFBI levels are associated with severe ROP and type 1 ROP, independently of gestational age. Moreover, combined predictive models based on CB TGFBI and endoglin levels, along with BW data, may act as good indicators at birth for the neonatal risk of ROP progression.


Subject(s)
Infant, Premature , Retinopathy of Prematurity , Infant , Pregnancy , Female , Infant, Newborn , Humans , Retrospective Studies , Transforming Growth Factor beta , Retinopathy of Prematurity/diagnosis , Retinopathy of Prematurity/metabolism , Fetal Blood/metabolism , Endoglin , Risk Factors , Gestational Age , Biomarkers , Transforming Growth Factors , Birth Weight
17.
J Eur Acad Dermatol Venereol ; 37(7): 1336-1343, 2023 Jul.
Article in English | MEDLINE | ID: mdl-36950978

ABSTRACT

BACKGROUND: Evidence for the association between psoriasis and uveitis according to the severity of psoriasis including psoriatic arthritis (PsA) and type of uveitis is lacking, and there are no data on the frequency or timing of recurrence of uveitis in patients with psoriasis. OBJECTIVES: We aimed to evaluate the risk of first occurrence and recurrence of uveitis in patients with psoriasis in the Korean population. We further evaluated the risk of uveitis according to the severity of psoriasis, comorbidity of PsA and location of uveitis. METHODS: In a nationwide retrospective cohort study, we compared 317,940 adult patients who had psoriasis with 635,880 matched controls. Incidence rates (IRs) and estimated IR ratios of the first occurrence and recurrence of uveitis were calculated using survival analysis and Poisson regression, respectively. RESULTS: The rate of uveitis incidence and uveitis recurrence in patients with psoriasis was 1.18 and 2.31 per 1000 person-years, respectively. Compared to the controls, the IR ratios of development and recurrence of uveitis in patients with psoriasis were 1.14 (95% CI 1.08, 1.2) and 1.16 (95% CI 1.12, 1.21), respectively. The recurrence rate of uveitis was highest within 3 years after the onset of psoriasis. The corresponding IR ratios for uveitis recurrence in patients with mild psoriasis, severe psoriasis and PsA were 1.11 (1.06, 1.16), 1.24 (1.16, 1.33) and 1.49 (1.31, 1.7), respectively. Patients with psoriasis had an increased risk of recurrence of anterior uveitis, and patients with both psoriasis and PsA had an increased risk of recurrence of both anterior-uveitis and panuveitis. CONCLUSIONS: Patients with psoriasis had a higher risk of both development and recurrence of uveitis, especially with severe psoriasis and PsA. The timing of uveitis recurrence was related to the onset of psoriasis, and patients who had psoriasis with PsA had an increased risk of vision-threatening panuveitis.


Subject(s)
Arthritis, Psoriatic , Panuveitis , Psoriasis , Uveitis , Adult , Humans , Arthritis, Psoriatic/complications , Cohort Studies , Retrospective Studies , Psoriasis/complications , Uveitis/epidemiology , Incidence , Panuveitis/complications , Acute Disease , Republic of Korea , Risk Factors
18.
Ophthalmologica ; 246(2): 141-149, 2023.
Article in English | MEDLINE | ID: mdl-37023723

ABSTRACT

INTRODUCTION: The aim of this study was to report surgical outcomes and risk factors for primary surgical failure following rhegmatogenous retinal detachment (RRD) repair. METHODS: In this retrospective cohort study, RRD patients who underwent primary surgery at a tertiary center between January 1, 2006, and December 31, 2020, were enrolled. Surgical failure was defined as reoperation within 60 days postoperatively due to retinal re-detachment and putative risk factors for surgical failure were analyzed. RESULTS: Of 2,383 eyes (2,335 patients), 1,342 (56.3%) underwent vitrectomy and 1,041 (43.7%) underwent scleral buckling. The surgical failure rate was 9.1% overall, and 6.0% and 13.1% for the vitrectomy and scleral buckling groups, respectively. In the multivariate logistic regression analysis, surgical failure was associated with surgical experience (first-year fellow vs. senior professor) (odds ratio [OR]: 1.66; p = 0.018), scleral buckling (OR: 2.33; p < 0.001), and longer axial length (AL; ≥26.5 mm) (OR: 1.49; p = 0.017). In each surgical approach, age <40 years (OR: 2.11; p = 0.029) in the vitrectomy group and age >40 years (OR, 1.84; p = 0.004), male sex (OR: 1.65; p = 0.015), and first-year fellows compared to senior professors (OR: 1.95; p = 0.013) in the scleral buckling group were associated with surgical failure. Lens status were not associated with the surgical failure rate. CONCLUSION: In this large retrospective study using data from Korea, vitrectomy was superior to scleral buckling in terms of primary anatomical outcomes in the management of RRD. First-year fellows were a risk factor for surgical failure, especially for scleral buckling. Longer AL was a significant parameter for predicting the success rates.


Subject(s)
Retinal Detachment , Scleral Buckling , Vitrectomy , Adult , Humans , Male , Retinal Detachment/diagnosis , Retinal Detachment/surgery , Retinal Detachment/etiology , Retrospective Studies , Risk Factors , Treatment Outcome , Visual Acuity , Vitrectomy/adverse effects
19.
Ophthalmologica ; 246(3-4): 192-202, 2023.
Article in English | MEDLINE | ID: mdl-36720210

ABSTRACT

INTRODUCTION: The aim of the study was to determine the short-term real-world safety and efficacy of intravitreal brolucizumab injections in Korean patients with neovascular age-related macular degeneration (nAMD). METHODS: This multicenter retrospective study involved 294 eyes (treatment naïve 20 eye [6.8%] and nontreatment naïve 274 eyes [93.2%]) of 290 patients from 13 hospitals or retinal centers in South Korea. Patients with nAMD who received brolucizumab injection(s) between April 1 and November 30, 2021, with a follow-up ≥1 month, were included. Primary outcomes were safety, incidence of intraocular inflammation (IOI), and potential risk factors. The secondary outcome was efficacy, i.e., change in best-corrected visual acuity (BCVA) and optical coherence tomography-measured macular thickness and retinal fluid. RESULTS: The mean age was 71.63 ± 8.66. The follow-up period was 2.38 ± 0.79 months. The mean number of brolucizumab injections during the follow-up was 1.52 ± 0.58. The overall incidence of IOI was 13.9% (n = 41 eyes). Most IOI cases were of anterior uveitis (8.8%, 26 eyes), followed by retinal vasculitis (2.4%, seven eyes) and occlusive retinal vasculitis (0.3%, one eye). Most eyes showed IOI resolution (n = 40, 97.5%) and BCVA restoration (n = 39, 95.1%) with or without corticosteroid treatment during the follow-up. Age, sex, IOI history, or other anti-vascular endothelial growth factor injection histories were not associated with the occurrence of IOI. However, only thin subfoveal choroidal thickness (SFCT) was associated with the occurrence of IOI (odds ratio = 0.995, p = 0.020). BCVA at 1 month improved from baseline (baseline 0.518 ± 0.356 vs. 1 month 0.503 ± 0.383, p = 0.023), but the improvement was not maintained. Anatomical improvement was significant after 3 months. CONCLUSION: In Korean patients with nAMD, the incidence of IOI following brolucizumab injections was 13.9%. IOI was well-controlled with or without steroid treatment. Most IOI eyes (95.1%) were restored to the level of vision before. IOI occurrence and occlusive vasculitis was rare. In the short term, brolucizumab injection effectively improved vision at 1 month and dried retinal fluid for 3 months.


Subject(s)
Macular Degeneration , Retinal Vasculitis , Humans , Middle Aged , Aged , Aged, 80 and over , Retrospective Studies , Inflammation , Retina
20.
BMC Ophthalmol ; 22(1): 399, 2022 Oct 07.
Article in English | MEDLINE | ID: mdl-36207689

ABSTRACT

BACKGROUND: To compare the efficacy of intraoperative localized and 360-degree laser photocoagulation in 23-gauge limited pars plana vitrectomy (PPV) for rhegmatogenous retinal detachment (RRD). METHODS: This retrospective, comparative, consecutive, interventional study included 155 eyes of 155 patients who underwent primary repair of RRD utilizing 23-gauge PPV with at least six months of follow up. Medical records were retrospectively reviewed, and the corresponding demographic data, preoperative ophthalmic features, surgical management, and postoperative course were recorded. Main outcome measures included single surgery anatomical success, pre- and post-operative visual acuity, and complications. RESULTS: Eighty-three patients (group A) received localized laser photocoagulation in PPV, while the remaining 72 patients (group B) received underwent circumferential 360-degree laser photocoagulation in PPV. Two skilled-surgeons performed all the surgeries, and 23-gauge PPV instrumentation, a wide-angle viewing system, endolaser photocoagulation, and gas tamponade were used in each case. No significant difference was identified in baseline characteristics. The single surgery anatomical success rate was 96.4 % in group A, and 95.8 % in group B, showing no significant difference (p = 1.00). Primary anatomical failure was caused by re-detachment due to break in 2 eyes in each group (no new break 1 eye, new break 1eye in group A, 2 eyes with no new break in group B), and proliferative vitreoretinopathy in 1 eye in each group. Other complications were epiretinal membrane in 7 eyes (3 in group A, 4 in group B), and macular hole in 1 eye in group B. There were no differences in pre- and post-operative best-corrected visual acuity (BCVA) as well as BCVA improvement (p=0.144, p=0.866 and p=0.263, respectively). CONCLUSION: Localized laser photocoagulation showed no difference in anatomic and visual outcome in RRD patients, when compared with 360-degree laser photocoagulation in limited PPV. Routine circumferential 360-degree laser photocoagulation may not be necessary in vitrectomy surgery for primary rhegmatogenous retinal detachment without severe PVR.


Subject(s)
Retinal Detachment , Vitreoretinopathy, Proliferative , Humans , Laser Coagulation/adverse effects , Lasers , Retinal Detachment/etiology , Retinal Detachment/surgery , Retrospective Studies , Treatment Outcome , Vitrectomy/adverse effects , Vitreoretinopathy, Proliferative/surgery
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