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The advent of smartphone fundus imaging technology has marked a significant evolution in the field of ophthalmology, offering a novel approach to the diagnosis and management of retinopathy. This review provides an overview of smartphone fundus imaging, including clinical applications, advantages, limitations, clinical applications, and future directions. The traditional fundus imaging techniques are limited by their cost, portability, and accessibility, particularly in resource-limited settings. Smartphone fundus imaging emerges as a cost-effective, portable, and accessible alternative. This technology facilitates the early detection and monitoring of various retinal pathologies, including diabetic retinopathy, age-related macular degeneration, and retinal vascular disorders, thereby democratizing access to essential diagnostic services. Despite its advantages, smartphone fundus imaging faces challenges in image quality, standardization, regulatory considerations, and medicolegal issues. By addressing these limitations, this review highlights the areas for future research and development to fully harness the potential of smartphone fundus imaging in enhancing patient care and visual outcomes. The integration of this technology into telemedicine is also discussed, underscoring its role in facilitating remote patient care and collaborative care among physicians. Through this review, we aim to contribute to the understanding and advancement of smartphone fundus imaging as a valuable tool in ophthalmic practice, paving the way for its broader adoption and integration into medical diagnostics.
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Tamoxifen, a pivotal therapy for hormone receptor-positive breast cancer, is known for its efficacy in reducing breast cancer recurrence and mortality. However, concerns about potential ocular complications, particularly maculopathy, have emerged. This study aims to investigate the risk and associated factors of diverse macular conditions in tamoxifen users, considering drug exposure, demographics, and systemic diseases. A nationwide cohort of tamoxifen users, comprised of 14,267 tamoxifen users, was analyzed using the health insurance review and assessment database in South Korea. Demographic and clinical characteristics were examined, and the cumulative incidence of macular diseases was stratified by age and cumulative tamoxifen dosage. We conducted logistic regression analysis to identify potential risk factors among clinical variables such as age, sex, indications for tamoxifen use, and systemic diseases associated with various macular conditions. Additionally, Cox proportional hazard models were used to determine the baseline clinical characteristics predictive of these macular conditions, with subsequent calculation of hazard ratios. Cumulative incidences of overall macular diseases, other maculopathy excluding common macular diseases, and macular edema were 26.4, 11.4, and 6.5%, respectively. The incidence of various macular conditions increased with age and the cumulative tamoxifen dose. Age, cumulative dose group, and liver diseases demonstrated significant associations with overall macular diseases and maculopathy excluding common macular diseases in multivariate logistic regression analyses (all P < 0.05). Furthermore, age emerged as significant predictive factors of maculopathy in Cox proportional hazard models. Tamoxifen-induced maculopathy poses a concern for prescribing physicians and ophthalmologists, and this study provides valuable insights into its risk and risk factors. This study may contribute to evidence-based guidelines for tamoxifen maculopathy screening, emphasizing the importance of considering age, cumulative dose, and liver diseases for recommendation on screening timing and frequency.
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Neoplasias de la Mama , Tamoxifeno , Humanos , Tamoxifeno/efectos adversos , Femenino , Persona de Mediana Edad , Factores de Riesgo , República de Corea/epidemiología , Anciano , Adulto , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/epidemiología , Incidencia , Masculino , Antineoplásicos Hormonales/efectos adversos , Modelos de Riesgos ProporcionalesRESUMEN
Real-world data (RWD) has emerged as a crucial component in understanding and improving patient outcomes across various medical conditions, including retinal diseases. Health claims databases, generated from healthcare reimbursement claims, offer a comprehensive source of RWD, providing insights into patient outcomes, healthcare utilization, and treatment effectiveness. However, the use of these databases for research also presents unique challenges. This narrative review explores the role of real-world research on retinal diseases using health claims databases, highlighting their advantages, limitations, and potential contributions to advancing our understanding and management of the diseases. The review examines the applications of health claims databases in retinal disease research, including epidemiological studies, comparative effectiveness and safety analyses, economic burden assessments, and evaluations of patient outcomes and quality of care. Previous findings demonstrate the value of these databases in generating prevalence and incidence estimates, identifying risk factors and predictors, evaluating treatment effectiveness and safety, and understanding healthcare utilization patterns and costs associated with retinal diseases. Despite their strengths, health claims databases face challenges related to data limitations, biases, privacy concerns, and methodological issues. Accordingly, the review also explores future directions and opportunities, including advancements in data collection and analysis, integration with electronic health records, collaborative research networks and consortia, and the evolving regulatory landscape. These developments are expected to enhance the utility of health claims databases for retinal disease research, resulting in more comprehensive and impactful findings across diverse retinal disorders and robust real-world insights from a large population.
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Background/Objective: Hydroxychloroquine retinopathy, traditionally characterized by parafoveal or pericentral outer retinal damage, is explored for atypical presentations in Asian patients. This challenges conventional beliefs regarding onset, retinopathy pattern, and associated visual field defects. Methods: Ninety-five patients diagnosed with hydroxychloroquine retinopathy at Hanyang University Hospital underwent screening from January 2010 to December 2023. Swept-source optical coherence tomography (SS-OCT), ultra-widefield fundus autofluorescence (UWF-FAF), and automated visual fields (VF) were employed for detailed structural and functional evaluations. Multifocal electroretinography was performed in selected cases requiring additional objective evidence of retinal toxicity. Results: Among 95 patients, 14 (14.7%) exhibited atypical presentations, including very early onset (n = 1), (far) peripheral-dominant damages (n = 4), perivascular involvement (n = 1), bitemporal hemianopsia due to nasal extensive lesions (n = 1), unilateral involvement (n = 2), and asymmetric involvement in retinopathy pattern or severity between the eyes (n = 7). These findings underscore the importance of utilizing expanded imaging techniques, such as ultra-widefield FAF imaging, to identify atypical presentations of retinal involvement. Conclusions: Screening physicians should consider these atypical presentations to ensure timely diagnosis and appropriate management in patients undergoing hydroxychloroquine treatment.
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This study aimed to evaluate the risk of uveitis, one of the most common ocular manifestations of COVID-19, in individuals with a history of uveitis and COVID-19 infection while discriminating the effects of COVID-19 infection and vaccinations. We analyzed nationwide data from 235,228 individuals with a history of uveitis prior to COVID-19 infection and evaluated incidences and hazard ratios (HRs) of post-COVID-19 uveitis for different post-infection periods, including early- (within 30 days) and delayed-onset ones. The cumulative incidences of post-infection uveitis at 3, 6, and 12 months were calculated as 8.5%, 11.8%, and 14.0%, respectively. The HR of post-COVID-19 uveitis was 1.21 (95% confidence interval [CI]: 1.07-1.37) and was particularly higher in the early-onset period (1.42, 95% CI: 1.24-1.61). Vaccinated individuals showed a modestly elevated risk of uveitis relative to pre-infection, while unvaccinated ones exhibited substantially higher risks in the early-onset period: the HR of post-infection uveitis before vaccination was 3.61 (95% CI: 1.35-9.66), whereas after vaccination, it was 1.21 (95% CI: 1.05-1.39). COVID-19 infection was associated with a higher risk of uveitis, which was mitigated by vaccination. Vigilance in the monitoring of uveitis is warranted for recently COVID-19-infected individuals with a history of uveitis, particularly unvaccinated individuals.
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In this population-based cohort study, we investigated screening practices for maculopathy and incidences of specific macular/retinal conditions in pentosan polysulfate (PPS) users and assessed the relationship between these outcomes and drug exposure levels. Using a health claims database that covers approximately 50 million Koreans, we identified 138,593 individuals who were prescribed PPS between 2010 and 2021. For the 133,762 PPS users who initiated therapy between 2012 and 2021, the cumulative PPS dose for each participant was evaluated, and based on their cumulative PPS dose, patients were categorized into the high-risk (≥ 500 g), low-risk (50-500 g), and minimal exposure (< 50 g) groups. We analyzed the performance and methods of these examination methods used between 2018 and 2021 and compared them among cumulative dose groups to determine whether high-risk users underwent maculopathy screening more frequently or appropriately. We assessed the cumulative incidence of overall macular degeneration and maculopathy excluding common macular diseases following PPS therapy initiation. Most PPS users (99.7%) received a cumulative PPS dose < 500 g and the high- and low-risk groups comprised 445 (0.3%) and 22,185 (16.6%) patients, respectively. During the study period, monitoring examinations were conducted in 52.6% and 49.4% of high- and low-risk patients, respectively, revealing no significant difference between the two groups (P = 0.156). No significant differences were observed in the annual percentages of patients receiving ophthalmic examinations between the high- and low-risk groups (all P > 0.05). The cumulative incidences of overall macular degeneration and maculopathy excluding common macular diseases in high-risk users were 19.3% and 9.0%, respectively, which were significantly different from those of low-risk users (both P < 0.001). Multivariate Cox regression analysis revealed significantly higher risks of maculopathy excluding common macular diseases in the low- (Hazard ratio [HR] of 1.55 [95% CI 1.13-2.12]) and high-risk groups (HR of 1.66 [95% CI 1.22-2.27]) compared to the minimal exposure group. Our findings suggest a need for increased emphasis on PPS maculopathy screening in high-risk patients, highlighting raising awareness regarding exposure-dependent risks and the establishment of screening guidelines.
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Degeneración Macular , Poliéster Pentosan Sulfúrico , Humanos , Poliéster Pentosan Sulfúrico/efectos adversos , Masculino , Femenino , Persona de Mediana Edad , Degeneración Macular/epidemiología , Degeneración Macular/inducido químicamente , Degeneración Macular/diagnóstico , Medición de Riesgo , Anciano , Adulto , Incidencia , República de Corea/epidemiología , Tamizaje Masivo/métodos , Estudios de CohortesRESUMEN
(1) Background/Objectives: To investigate the nationwide screening practices and trends in tamoxifen retinal toxicity (tamoxifen retinopathy) in South Korea using national health insurance claims data. (2) Methods: A total of 43,848 patients who started tamoxifen therapy between 2015 and 2020 and had no prior ophthalmic diseases or other conditions requiring screening for retinopathy were included. The annual numbers of tamoxifen users and new initiators of tamoxifen therapy were assessed. The screening examinations were separated into baseline (first ophthalmic examination after tamoxifen administration) and subsequent monitoring examinations. The timing and modalities for the baseline and subsequent monitoring examinations performed between 2015 and 2021 were assessed in tamoxifen users. (3) Results: The annual number of tamoxifen users increased over the study period from 54,056 in 2015 to 81,720 in 2021. The number of patients who underwent ophthalmic examination after tamoxifen administration was 8961 (20.4%). Baseline screening was performed in 6.5% of patients within 1 year of use, and subsequent monitoring was performed in 27.8% of patients who underwent baseline screening. Funduscopy or fundus photography was performed most commonly for baseline screening and subsequent monitoring (99.0% and 98.6%, respectively), while optical coherence tomography was performed only in 21.9% and 29.6% of baseline and monitoring examinations, respectively. The average number of monitoring examinations per year was 0.68 ± 0.45. Although the annual percentage of patients receiving a baseline examination within 1 year gradually increased over time, the percentage of those with subsequent monitoring performed within 1 year was similar over the study period. (4) Conclusions: Our finding, appropriate screening in a small proportion of patients receiving tamoxifen, suggests the need to promote awareness among healthcare professionals and develop a standardized approach for screening for tamoxifen retinopathy.
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Importance: Understanding the potential risk of uveitis recurrence after COVID-19 vaccination in individuals with a history of uveitis is crucial for vaccination strategies and clinical monitoring. Objective: To investigate the risk of uveitis recurrence after COVID-19 vaccination in a cohort of individuals with a history of uveitis. Design, Setting, and Participants: This retrospective population-based cohort study included individuals diagnosed with uveitis between January 1, 2015, and February 25, 2021, in South Korea. After excluding individuals without COVID-19 vaccination or with SARS-CoV-2 infection, individuals with a history of uveitis who had received at least 1 dose of a messenger RNA (BNT162b2 [Pfizer-BioNTech] or mRNA-1273 [Moderna]) or adenovirus vector-based (ChAdOx1 [AstraZeneca] or Ad26.COV2.S [Janssen]) COVID-19 vaccine were included. Data were analyzed from February 26, 2021, to December 31, 2022. Exposure: Demographic and clinical data, along with vaccination details, were retrieved from the Korean National Health Insurance Service and Korea Disease Control and Prevention Agency databases. Main Outcomes and Measures: Outcomes of interest were incidence and risk of postvaccination uveitis in association with different COVID-19 vaccines and periods before and after COVID-19 vaccination. Uveitis was categorized by onset (early, within 30 days, or delayed) and type (anterior or nonanterior). Hazard ratios (HRs) with 95% CIs were calculated to evaluate the risk of uveitis following COVID-19 vaccination, stratified according to vaccine type and vaccination period. Results: Of 543â¯737 individuals with history of uveitis, 473â¯934 individuals (mean [SD] age, 58.9 [17.4] years; 243â¯127 [51.3] female) had documented COVID-19 vaccination and were included in analysis. The cumulative incidence of postvaccination uveitis was 8.6% at 3 months, 12.5% at 6 months, and 16.8% at 1 year, predominantly of the anterior type. Variations in the risk of postvaccination uveitis were observed across different vaccines and intervaccination periods. The risk of early postvaccination uveitis was increased for individuals receiving the BNT162b2 (HR, 1.68; 95% CI, 1.52-1.86), mRNA-1273 (HR, 1.51; 95% CI, 1.21-1.89), ChAdOx1 (HR, 1.60; 95% CI, 1.43-1.79), and Ad26.COV2.S (HR, 2.07; 95% CI, 1.40-3.07) vaccines. The risk of uveitis was higher particularly between the first and second vaccination doses (HR, 1.64; 95% CI, 1.55-1.73). Conclusions and Relevance: These findings suggest that there was an elevated risk of uveitis following COVID-19 vaccination, with the vaccine type and period mediating this risk. For individuals with a history of uveitis, clinicians should consider the potential risk of uveitis recurrence in vaccination strategies and clinical monitoring.
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Vacuna BNT162 , Vacunas contra la COVID-19 , COVID-19 , SARS-CoV-2 , Uveítis , Humanos , Femenino , Masculino , Uveítis/etiología , Uveítis/diagnóstico , Estudios Retrospectivos , Persona de Mediana Edad , República de Corea/epidemiología , COVID-19/prevención & control , COVID-19/epidemiología , Adulto , Vacuna BNT162/efectos adversos , Vacunas contra la COVID-19/efectos adversos , Incidencia , Vacuna nCoV-2019 mRNA-1273/efectos adversos , Anciano , ChAdOx1 nCoV-19/efectos adversos , Ad26COVS1/efectos adversos , Vacunación/efectos adversos , Recurrencia , Factores de RiesgoRESUMEN
PURPOSE: To investigate the associations between screening practices and late diagnosis in Asian patients with hydroxychloroquine retinopathy. METHODS: In total, 92 Korean patients with hydroxychloroquine retinopathy were included and separated into late diagnosis and earlier diagnosis groups according to the retinopathy stage at the time of diagnosis. Details of screening practices regarding timing and modalities for baseline and annual monitoring examinations were compared between the two groups. Adherence to the current American Academy of Ophthalmology guidelines was compared between the two groups. RESULTS: Timing of baseline and initial monitoring examinations was appropriate as per the Academy of Ophthalmology guidelines in only 5.3% of patients with late diagnosis. There were significant differences in the proportions of patients receiving initial monitoring at 5 years of use and those receiving annual monitoring between the late and earlier diagnosis groups ( P = 0.003 and <0.001, respectively). The duration from the start date of hydroxychloroquine therapy to the first monitoring examination was significantly prolonged in the late diagnosis group ( P < 0.001). Multivariate logistic regression revealed significant association of the time duration with the first monitoring examination ( P = 0.042) and age ( P = 0.028) with late diagnosis. CONCLUSION: Results of this study suggest that poor adherence to the Academy of Ophthalmology guideline, particularly delayed initial monitoring, may be associated with late diagnosis of hydroxychloroquine retinopathy.
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Antirreumáticos , Diagnóstico Tardío , Hidroxicloroquina , Enfermedades de la Retina , Humanos , Hidroxicloroquina/efectos adversos , Masculino , Femenino , Enfermedades de la Retina/inducido químicamente , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/etnología , Persona de Mediana Edad , Antirreumáticos/efectos adversos , Adulto , Estudios Retrospectivos , Anciano , República de Corea , Pueblo Asiatico/etnologíaRESUMEN
Background: Anterior uveitis (AU) is a significant concern in patients with ankylosing spondylitis (AS), and the choice of tumor necrosis factor inhibitors (TNFi) as a treatment modality raises questions regarding its effects on AU. We compared the effects of TNFi on AU in patients with AS. Methods: Patients diagnosed with AS and treated with at least one TNFi, including anti-TNFα antibodies (adalimumab and infliximab) or a soluble TNF receptor molecule (etanercept), between January 2010 and December 2022, were retrospectively reviewed. We compared the recurrence rate of AU in patients with a history of uveitis and the incidence of new-onset AU in those without a history of uveitis among the three TNFi groups. We also compared the effects of two different TNFi agents in patients who underwent TNFi switching. Results: Within two years of treatment initiation, there was no significant difference in AU recurrence among the three TNFi groups. However, the incidence of new-onset AU was significantly higher in the etanercept group than in the adalimumab group (26.4% vs. 6.3%; p = 0.024). After two years, the AU recurrence rate was significantly lower in the adalimumab group than in the other groups (p < 0.001). Among patients who underwent anti-TNFi switching, adalimumab treatment was associated with a significantly lower incidence of uveitis than etanercept (p = 0.023). Conclusion: In the short-term period following TNFi therapy, etanercept induced new-onset AU more frequently than adalimumab in patients with AS. Adalimumab recipients experienced fewer AU recurrences during the subsequent long-term period compared to other TNFi recipients.
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In this nationwide population-based cohort study, we investigated the demographic and clinical characteristics associated with hydroxychloroquine retinopathy screening using the National Health Insurance Review and Assessment database in South Korea. This study included a total of 32,732 at-risk patients, identified based on having been prescribed hydroxychloroquine for at least 6 months, and 15,477 long-term (> 5 years) users between January 2010 and December 2020. Participants were categorized based on the performance of baseline examinations (within 1 year of hydroxychloroquine use) and monitoring examinations (after 5 years of hydroxychloroquine use). Demographic and clinical factors, including hospitals and medical specialties prescribing hydroxychloroquine, indications for hydroxychloroquine use, and prescription details, were compared between groups. Significant differences were found in sex, residence, departments and hospitals (primary vs. referral centers) where hydroxychloroquine was prescribed, diagnosis for hydroxychloroquine therapy, and mean daily dose between patients who did and did not undergo baseline or monitoring examinations (all P < 0.01). Patients who received hydroxychloroquine prescriptions from referral hospitals were more likely to undergo baseline and monitoring examinations compared to those from primary clinics (both P < 0.001). Additionally, patients who received hydroxychloroquine prescriptions from the rheumatology department and had systemic lupus erythematosus were more likely to undergo baseline and monitoring examinations compared to other patients (all P < 0.001). There were notable differences in the number of modalities used for retinopathy screening between primary and referral centers (P < 0.001). Our findings suggest that several clinical factors related to hydroxychloroquine prescription and screening centers are associated with retinopathy screening practices.
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Lupus Eritematoso Sistémico , Enfermedades de la Retina , Humanos , Hidroxicloroquina/efectos adversos , Estudios de Cohortes , Enfermedades de la Retina/inducido químicamente , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/epidemiología , DemografíaRESUMEN
Purpose: To characterize the clinical effects of two RP1L1 hotspots in patients with East Asian occult macular dystrophy (OMD). Methods: Fifty-one patients diagnosed with OMD harboring monoallelic pathogenic RP1L1 variants (Miyake disease) from Japan, South Korea, and China were enrolled. Patients were classified into two genotype groups: group A, p.R45W, and group B, missense variants located between amino acids (aa) 1196 and 1201. The clinical parameters of the two genotypes were compared, and deep learning based on spectral-domain optical coherence tomographic (SD-OCT) images was used to distinguish the morphologic differences. Results: Groups A and B included 29 and 22 patients, respectively. The median age of onset in groups A and B was 14.0 and 40.0 years, respectively. The median logMAR visual acuity of groups A and B was 0.70 and 0.51, respectively, and the survival curve analysis revealed a 15-year difference in vision loss (logMAR 0.22). A statistically significant difference was observed in the visual field classification, but no significant difference was found in the multifocal electroretinographic classification. High accuracy (75.4%) was achieved in classifying genotype groups based on SD-OCT images using machine learning. Conclusions: Distinct clinical severities and morphologic phenotypes supported by artificial intelligence-based classification were derived from the two investigated RP1L1 hotspots: a more severe phenotype (p.R45W) and a milder phenotype (1196-1201 aa). This newly identified genotype-phenotype association will be valuable for medical care and the design of therapeutic trials.
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Inteligencia Artificial , Proteínas del Ojo , Degeneración Macular , Adolescente , Adulto , Humanos , Adulto Joven , Aminoácidos , China , Enfermedad Crónica , Pueblos del Este de Asia , Proteínas del Ojo/genética , Degeneración Macular/genética , Estudios de Asociación GenéticaRESUMEN
OBJECTIVE: To investigate the nationwide use of pentosan polysulfate (PPS) and screening practices for PPS maculopathy (PPM), with a focus on the timing and modalities used. DESIGN: Population-based cohort study. PARTICIPANTS: For evaluation of nationwide usage, 133 762 individuals who received PPS prescriptions between 2012 and 2021 were included. To investigate practice patterns, 55 487 individuals (referred to as overall users) who initiated PPS therapy between 2018 and 2020 were identified using the Health Insurance Review and Assessment database. After excluding patients with ophthalmic diseases before PPS administration, 34 857 PPS users without prior ophthalmic diseases were identified. METHODS: Ophthalmic examinations performed after initiating PPS therapy were categorized as baseline and subsequent monitoring examinations. The timing and modalities employed for these examinations were analyzed. The annual trends in PPS utilization and maculopathy screening were evaluated by assessing the number of PPS users and determining the proportion of patients receiving retinal/macular examinations among these users. MAIN OUTCOME MEASURES: Performance of baseline and subsequent monitoring examinations and timing and modalities used for screening. RESULTS: The number of PPS users dramatically increased annually over the study period from 5494 in 2012 to 40 451 in 2021. However, the majority of PPS users did not undergo baseline or subsequent monitoring examinations for PPM. Only 27.2% and 12.4% of PPS users without prior ophthalmic disease underwent baseline and monitoring examinations, respectively. Funduscopy/fundus photography was the most commonly utilized, whereas OCT and fundus autofluorescence (FAF) were performed in only 45.2% and 5.3% of the PPS users without prior ophthalmic diseases for monitoring, respectively. The performance of the screening examinations differed significantly across the 3 different daily dose and duration groups (all P < 0.05). CONCLUSIONS: This study highlights the lack of performance of baseline and monitoring examinations for maculopathy in most patients taking PPS in South Korea. The limited use of OCT and FAF suggests potential insensitivity in detecting PPM. These findings emphasize the need for improvements in screening practices, including increased awareness and referrals to ophthalmologists, utilization of more sensitive modalities, and regular monitoring to enable early detection of PPM. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.
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Degeneración Macular , Enfermedades de la Retina , Humanos , Poliéster Pentosan Sulfúrico/efectos adversos , Estudios de Cohortes , Enfermedades de la Retina/inducido químicamente , Enfermedades de la Retina/diagnóstico , Enfermedades de la Retina/epidemiología , Degeneración Macular/diagnóstico , Degeneración Macular/tratamiento farmacológico , Degeneración Macular/epidemiología , República de Corea/epidemiologíaRESUMEN
Introduction: Late diagnosis of hydroxychloroquine retinopathy remains a major concern, with the potential for irreversible visual impairment. This study aimed to investigate the causes of late diagnosis in a hospital-based cohort of Korean patients with hydroxychloroquine retinopathy and assess the trend of late diagnosis from 2015 to 2022. Methods: Thirty-eight patients with a late diagnosis (severe stage at diagnosis) among 94 patients with hydroxychloroquine retinopathy were included in the analysis. The causes of late diagnosis were categorized as referral-related, patient-related, and screening-related factors. Results: The most prevalent cause was no or late referral to ophthalmologists, contributing to a significant gap in timely identification. Patient-related causes included delayed monitoring visits despite scheduled appointments and early-onset disease. Screening-related causes encompassed an insufficient number of sensitive tests, leading to inadequate evidence for diagnosis, and missed or wrong diagnoses by screening physicians. The proportion of late diagnoses decreased over time, indicating improvements in overall screening and detection. The decreasing proportions of screening-related causes suggest advancements in screening practices and the use of multiple sensitive tests for screening. Discussion: Efforts to further reduce late diagnoses and improve screening and diagnostic processes are necessary. Our data emphasize the importance of timely referral to ophthalmologists for early detection and management.
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Occult macular dystrophy (OMD) is the most prevalent form of macular dystrophy in East Asia. Beyond RP1L1, causative genes and mechanisms remain largely uncharacterised. This study aimed to delineate the clinical and genetic characteristics of OMD syndrome (OMDS). Patients clinically diagnosed with OMDS in Japan, South Korea, and China were enrolled. The inclusion criteria were as follows: (1) macular dysfunction and (2) normal fundus appearance. Comprehensive clinical evaluation and genetic assessment were performed to identify the disease-causing variants. Clinical parameters were compared among the genotype groups. Seventy-two patients with OMDS from fifty families were included. The causative genes were RP1L1 in forty-seven patients from thirty families (30/50, 60.0%), CRX in two patients from one family (1/50, 2.0%), GUCY2D in two patients from two families (2/50, 4.0%), and no genes were identified in twenty-one patients from seventeen families (17/50, 34.0%). Different severities were observed in terms of disease onset and the prognosis of visual acuity reduction. This multicentre large cohort study furthers our understanding of the phenotypic and genotypic spectra of patients with macular dystrophy and normal fundus. Evidently, OMDS encompasses multiple Mendelian retinal disorders, each representing unique pathologies that dictate their respective severity and prognostic patterns.
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Degeneración Macular , Distrofias Retinianas , Humanos , Estudios de Cohortes , Pueblos del Este de Asia , Electrorretinografía , Retina/patología , Degeneración Macular/patología , Distrofias Retinianas/patología , Proteínas del Ojo/genéticaRESUMEN
Retinopathy is a well-recognized toxic effect of hydroxychloroquine treatment. As hydroxychloroquine retinopathy is potentially a vision-threatening condition, early detection is imperative to minimize vision loss due to drug toxicity. However, early detection of hydroxychloroquine retinopathy is still challenging even with modern retinal imaging techniques. No treatment has been established for this condition, except for drug cessation to minimize further damage. In this perspective article, we aimed to summarize the knowledge gaps and unmet needs in current clinical practice and research in hydroxychloroquine retinopathy. The information presented in this article may help guide the future directions of screening practices and research in hydroxychloroquine retinopathy.
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Long-term use of hydroxychloroquine can cause retinopathy, which may result in severe and progressive visual loss. In the past decade, hydroxychloroquine use has markedly increased and modern retinal imaging techniques have enabled the detection of early, pre-symptomatic disease. As a consequence, the prevalence of retinal toxicity in long-term hydroxychloroquine users is known to be higher than was previously estimated. The pathophysiology of the retinopathy is incompletely characterised, although significant advances have been made in understanding the disease from clinical imaging studies. Hydroxychloroquine retinopathy elicits sufficient public health concern to justify the implementation of retinopathy screening programs for patients at risk. Here, we describe the historical background of hydroxychloroquine retinopathy and summarize its current understanding. We review the utility and limitations of each of the mainstream diagnostic tests used to detect hydroxychloroquine retinopathy. The key considerations towards a consensus on the definition of hydroxychloroquine retinopathy are outlined in the context of what is known of the natural history of the disease. We compare the current screening recommendations for hydroxychloroquine retinopathy, identifying where additional evidence is required, and the management of proven cases of toxicity. Finally, we highlight the areas for further investigation, which may further reduce the risk of visual loss in hydroxychloroquine users.
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Importance: Practice patterns of hydroxychloroquine retinopathy screening have not yet been reported at a national level in South Korea. Objective: To investigate the practice patterns of timing and modality for hydroxychloroquine retinopathy screening in South Korea. Design, Setting, and Participants: This nationwide population-based cohort study of patients in South Korea used data from the national Health Insurance Review and Assessment database. Patients at risk were identified as those who had initiated hydroxychloroquine therapy between January 1, 2009, and December 31, 2020, and used it for 6 months or more. Patients were excluded if they underwent any of the 4 screening modalities recommended by the American Academy of Ophthalmology (AAO) for other ophthalmic diseases prior to hydroxychloroquine use. The timing and modalities of screening used in baseline and monitoring examinations were assessed between January 1, 2015, and December 31, 2021, among patients at risk and long-term (≥5 years) users. Exposure: Adherence of baseline screening practices to the 2016 AAO recommendations (fundus examination within 1 year of drug use) was evaluated; adherence of monitoring examinations in year 5 was classified as appropriate (≥2 tests recommended by the AAO), unscreened (no test performed), and underscreened (insufficient number of tests). Main Outcomes and Measures: Timing of screening and modalities used at baseline and monitoring examinations. Results: A total of 65â¯406 patients at risk (mean [SD] age, 53.0 [15.5] years; 50â¯622 women [77.4%]) were included; 29â¯776 patients were long-term users (mean [SD] age, 50.1 [14.7] years; 24â¯898 women [83.6%]). Baseline screening was performed for 20.8% of the patients within 1 year, with a gradual increase from 16.6% in 2015 to 25.6% in 2021. Monitoring examinations, mostly using optical coherence tomography and/or visual field tests, were performed for only 13.5% of the long-term users in year 5 and for 31.6% of the long-term users after 5 years. Appropriate monitoring was performed for less than 10% of long-term users each year from 2015 to 2021; however, the percentage gradually increased over time. The percentage of patients undergoing any monitoring examination in year 5 was 2.3 times greater for those who had received baseline screening than for those who did not (27.4% vs 11.9%; P < .001). Conclusions and Relevance: This study suggests there is an improving trend in retinopathy screening among hydroxychloroquine users in South Korea; however, most long-term users remained unscreened after 5 years of use. Baseline screening may be useful in reducing the number of unscreened long-term users.
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Hidroxicloroquina , Enfermedades de la Retina , Humanos , Femenino , Persona de Mediana Edad , Estudios de Cohortes , Academias e Institutos , República de CoreaRESUMEN
OBJECTIVE: To investigate macular ganglion cell complex (GCC) and peripapillary retinal nerve fiber layer (RNFL) thicknesses in patients with hydroxychloroquine retinopathy of differing severity. DESIGN: Cross-sectional, case-control comparison study. PARTICIPANTS: From patients screened for hydroxychloroquine retinopathy between January 2016 and October 2021 using swept-source optical coherence tomography (SS-OCT), fundus autofluorescence (FAF), and standard automated perimetry, 66 patients with retinopathy and 66 without retinopathy were included by 1:1 propensity score matching based on age, sex, systemic diseases, history of tamoxifen and pentosan use, and kidney disease. METHODS: Eyes with hydroxychloroquine retinopathy were divided into early, moderate, and severe stages. Inner-retinal thickness parameters, including macular GCC (RNFLâ¯+â¯ganglion cell layerâ¯+â¯inner plexiform layer) and peripapillary RNFL thicknesses, were automatically obtained using SS-OCT (DRI-OCT Triton, Topcon Inc., Japan) and compared between patients with and without retinopathy and between severity subgroups. The structure-function relationships between GCC or peripapillary RNFL thicknesses and perimetric parameters including mean deviation (MD) and visual field index (VFI) of Humphrey 30-2 test were evaluated. MAIN OUTCOME MEASURES: Macular GCC and peripapillary RNFL thickness parameters. RESULTS: The average macular GCC and peripapillary RNFL thicknesses were significantly decreased in patients with hydroxychloroquine retinopathy relative to those without retinopathy. Macular GCC thicknesses in 4 of 6 macular sectors and peripapillary RNFL thicknesses in 9 of 12 clock-hour sectors were significantly different between the groups. The differences in the average and sectoral macular GCC parameters were statistically significant among the severity subgroups, particularly between severe and earlier stages. Average macular GCC and peripapillary RNFL thicknesses significantly correlated with MD and VFI in all patients (all P < .001). CONCLUSIONS: Macular GCC and peripapillary RNFL thinning was more prominent in eyes with severe hydroxychloroquine retinopathy, as indicative of inner-retinal thinning in eyes with advanced-stage disease. Further, as inner-retinal thinning showed a significant correlation with worse perimetric function, cautious evaluation of the inner retina may be required for eyes with advanced hydroxychloroquine retinopathy.