Korean Journal of Ophthalmology : KJO最新文献

{"title":"Improved Intermediate Visual Function with New Monofocal Intraocular Lens in Combined Cataract and Vitrectomy Surgery for Retinal Disease.","authors":"Min Ji Park,&nbsp;Ho Seok Lee,&nbsp;In Boem Chang,&nbsp;In Hwan Hong","doi":"10.3341/kjo.2023.0056","DOIUrl":"10.3341/kjo.2023.0056","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the usefulness of a newly generated monofocal intraocular lens (IOL) in patients with various retinal diseases who underwent combined cataract and pars plana vitrectomy surgery.</p><p><strong>Methods: </strong>This prospective observational study included 33 patients with various retinal diseases. Monocular best-corrected distance visual acuity (BCDVA), uncorrected distance visual acuity (UCDVA), uncorrected intermediate visual acuity (UCIVA), uncorrected near visual acuity (UCNVA), and contrast sensitivity were measured and compared with 40 age-matched patients in the standard monofocal IOL.</p><p><strong>Results: </strong>The Eyhance IOL group demonstrated significantly better UCIVA at 6 months follow-up compared to the standard monofocal IOL group. No significant differences were observed between the two groups in contrast sensitivity, BCDVA, UCDVA, or UCNVA. The regression analysis showed a significant association between preoperative corrected distance visual acuity and improved UCIVA in the Eyhance IOL group.</p><p><strong>Conclusions: </strong>The Eyhance ICB00 IOL proved to be a valuable option for patients with retinal diseases undergoing combined cataract surgery and vitrectomy. It effectively improved intermediate vision without compromising contrast sensitivity or distance visual acuity.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":" ","pages":"401-408"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/40/df/kjo-2023-0056.PMC10587461.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10423135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Outcomes of Descemet Membrane Endothelial Keratoplasty Using a Preloaded Imported Graft.","authors":"Minha Kim, Kang Hyun Kim, Hyung Keun Lee","doi":"10.3341/kjo.2023.0053","DOIUrl":"10.3341/kjo.2023.0053","url":null,"abstract":"<p><strong>Purpose: </strong>Although the popularity of Descemet membrane endothelial keratoplasty (DMEK) is increased, there is still few clinical studies in Korea. In this study, we aimed to report the initial clinical outcomes of DMEK in patients followed up for more than 6 months.</p><p><strong>Methods: </strong>A total of 96 eyes that underwent DMEK by a single surgeon for Fuchs endothelial corneal dystrophy, pseudophakic bullous keratopathy, or other indications were evaluated for best-corrected visual acuity (BCVA), endothelial cell density (ECD), central corneal thickness (CCT), postoperative complications, and graft survival.</p><p><strong>Results: </strong>The postoperative BCVA significantly increased compared to the preoperative BCVA by 59.4% (1.00 ± 0.77 logarithm of the minimum angle of resolution vs. 0.67 ± 0.76 logarithm of the minimum angle of resolution, p &lt; 0.001). The average preoperative ECD was 754 ± 382 cells/mm2, increasing to 1,333 ± 562 cells/mm2 at 3 months (76.8%, p &lt; 0.001), 1,334 ± 632 cells/mm2 at 6 months (76.9%, p &lt; 0.001), 1,121 ± 474 cells/mm2 at 12 months (48.7%, p = 0.024), and 972 ± 458 cells/mm2 at 24 months postoperatively (28.9%, p = 0.445). Compared to 3 months, the ECD declined by 15.9% at 12 months (p = 0.009) and 27.1% at 24 months postoperatively (p = 0.158). The average CCT was 675 ± 113 μm preoperatively, decreasing to 581 ± 102, 574 ± 101, and 594 ± 94 μm at 6, 12, and 24 months after DMEK, respectively (p &lt; 0.001 between all follow-up time points). Allograft rejection was detected in three (3.1%) and 14 eyes (14.6%) underwent retransplantation at an average of 10.1 ± 8.4 months after DMEK.</p><p><strong>Conclusions: </strong>DMEK is promising for maintaining corneal clarity, low postoperative complication rates, and stable graft longevity.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":" ","pages":"373-379"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/5a/kjo-2023-0053.PMC10587462.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9971832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Proliferative Diabetic Retinopathy Requiring Vitrectomy Over Clinic Management During COVID-19: Impact of Delayed Care.","authors":"Bennett E Ahearn,&nbsp;Huy Nguyen,&nbsp;Jeong-Hyeon Sohn","doi":"10.3341/kjo.2022.0147","DOIUrl":"https://doi.org/10.3341/kjo.2022.0147","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to investigate the impact of delayed retinal clinical care during the COVID-19 pandemic on the severity of proliferative diabetic retinopathy (PDR) and drivers of follow-up delay. We compared disease severity and follow-up rates of PDR patients requiring vitrectomy to those managed nonsurgically, and identified factors associated with need for vitrectomy.</p><p><strong>Methods: </strong>The study included 739 patients diagnosed with PDR between January 1, 2018, and March 4, 2021, categorized into two groups based on outcome: vitrectomy nonvitrectomy. Statistical methods such as t-tests and chi-square tests were used to analyze differences in disease severity and follow-up rates before and after COVID-19 shutdown. A multivariate regression evaluated factors leading to vitrectomy by comparing initial ETDRS (Early Treatment of Diabetic Retinopathy Study) DR staging, disease stability, DR progression, proliferative complications, appointment intervals, follow-up variance, rescheduling rate, and no-show rate.</p><p><strong>Results: </strong>Of the 739 patients, 202 required vitrectomy, 537 were managed nonsurgically. The vitrectomy group had more severe or unstable disease before shutdown. The interval between patient visits preshutdown was 29.76 ± 45.11 days in the vitrectomy group and 40.23 ± 56.73 days in the nonvitrectomy group (p &lt; 0.001). Both groups experienced a significant increase in appointment intervals after shutdown, with the vitrectomy group having a greater increase. Both groups had significantly increased rescheduling rate and minimally increased no-show rate. Patient-directed rescheduling was the main driver of appointment delays. Disease factors, such as tractional retinal detachment and higher ETDRS DR staging, increased the odds of vitrectomy, while appointment burden and follow-up variability had a minimal impact.</p><p><strong>Conclusions: </strong>Patients with more severe PDR and greater delay in appointments due to the pandemic were more likely to require vitrectomy for proliferative complications. Patient-directed rescheduling was identified as the main driver of care delays, as opposed to clinic-directed rescheduling. This study highlights the importance of maintaining regular follow-up appointments for PDR patients during pandemics.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":"37 4","pages":"292-298"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2f/ee/kjo-2022-0147.PMC10427906.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10009085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Incidence and Risk Factors of Recurrent Anterior Uveitis in Initial Acute-Onset Vogt-Koyanagi-Harada Disease.","authors":"Yeon Ju Lim,&nbsp;Iksoo Byon,&nbsp;Hyun Woong Kim,&nbsp;Sung Who Park,&nbsp;Han Jo Kwon,&nbsp;EunAh Kim","doi":"10.3341/kjo.2023.0017","DOIUrl":"https://doi.org/10.3341/kjo.2023.0017","url":null,"abstract":"<p><strong>Purpose: </strong>We report the estimated incidence of, and risk factors for, recurrent anterior uveitis in patients with initial acute-onset Vogt-Koyanagi-Harada (VKH) disease using survival analyses.</p><p><strong>Methods: </strong>Patients who were diagnosed with initial acute-onset VKH disease during 2003-2022 at two university hospitals were included. Recurrent anterior uveitis was defined as the first occurrence of the granulomatous anterior uveitis with anterior chamber cells and flare of 2+ or more by the Standardization of Uveitis Nomenclature (SUN) Working Group grading scheme, after the disappearance of conspicuous uveitis and serous retinal detachment for at least 3 months, regardless of systemic or local treatment. The univariate log-rank test and multivariate Cox regression analyses were performed, including patients' demographic characteristics, underlying diseases, presence of prodromal symptoms, duration of visual symptoms, visual acuity, slit-lamp and fundus findings, and height of serous retinal detachment. The treatment method and response to treatment were also included.</p><p><strong>Results: </strong>The estimated incidence was 39.3% at 10 years. Fifteen of 55 patients (27.3%) had recurrent anterior uveitis during the mean follow-up of 4.5 years. The presence of focal posterior synechiae at the diagnosis increased the risk of recurrent anterior uveitis 6.97-fold compared to the absence of synechiae (95% confidence interval [CI], 2.20-22.11; p &lt; 0.001). Use of systemic high-dose steroid therapy more than 7 days after the development of visual symptoms resulted in a hazard ratio of 4.55 (95% CI, 1.27-16.40; p = 0.020).</p><p><strong>Conclusions: </strong>This study reports the estimated incidence and risk factors of recurrent anterior uveitis in VKH disease from survival analyses. However, because of the retrospective nature of this study, it is hard to confirm the consistency of the medical records regarding risk factors, thus, the presence of focal posterior synechiae can be inconclusive as a risk factor. Further studies are warranted.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":"37 4","pages":"299-306"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/08/04/kjo-2023-0017.PMC10427900.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10455559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2.","authors":"Myung Soo Chang,&nbsp;Ikhyun Jun,&nbsp;Eung Kweon Kim","doi":"10.3341/kjo.2023.0032","DOIUrl":"https://doi.org/10.3341/kjo.2023.0032","url":null,"abstract":"<p><p>Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant corneal stromal dystrophy that is caused by p.Arg124His mutation of transforming growth factor β induced (TGFBI) gene. It is characterized by well demarcated granular shaped opacities in central anterior stroma and as the disease progresses, extrusion of the deposits results in ocular pain due to corneal epithelial erosion. Also, diffuse corneal haze which appears late, causes decrease in visual acuity. The prevalence of GCD2 is high in East Asia including Korea. Homozygous patients show a severe phenotype from an early age, and the heterozygote phenotype varies among patients, depending on several types of compound heterozygous TGFBI mutations. In the initial stage, conservative treatments such as artificial tears, antibiotic eye drops, and bandage contact lenses are used to treat corneal erosion. Different surgical methods are used depending on the depth and extent of the stromal deposits. Phototherapeutic keratectomy removes anterior opacities and is advantageous in terms of its applicability and repeatability. For deeper lesions, deep anterior lamellar keratoplasty can be used as the endothelial layer is not always affected. Recurrence following these treatments are reported within a wide range of rates in different studies due to varying definition of recurrence and follow-up period. In patients who have undergone corneal laser vision-correction surgeries such as photorefractive keratectomy, LASEK, or LASIK including SMILE surgery, corneal opacity exacerbates rapidly with severe deterioration of visual acuity. Further investigations on new treatments of GCD2 are necessary.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":"37 4","pages":"340-347"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/64/f4/kjo-2023-0032.PMC10427907.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10009084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Experimental Assessment of the Performance of Dual Pneumatic Vitreous Cutters According to Gauge and Cut Rate.","authors":"Sooyeon Lee,&nbsp;Kyung Seek Choi","doi":"10.3341/kjo.2023.0045","DOIUrl":"https://doi.org/10.3341/kjo.2023.0045","url":null,"abstract":"<p><strong>Purpose: </strong>To compare and analyze the performance of dual pneumatic ultra-high-speed vitreous cutters based on their cut rates, vacuum levels, and diameters in terms of flow rate and cutting time.</p><p><strong>Methods: </strong>The Constellation Vision System was used to remove egg white for 30 seconds, after which we calculated the flow rate by measuring the change in weight. We then measured the time required to remove 4 mL of egg white. We tested the UltraVit (UV) 7,500 cuts per minute (cpm) probe and the Advanced UltraVit (AUV) 10,000 cpm probe in biased open duty cycle mode, using 23-, 25-, and 27-gauge probes, respectively.</p><p><strong>Results: </strong>In biased open duty cycle, the flow rate tended to decrease as the cut rates increased for all three gauges. At the same cut rates, the flow rate increased as the vacuum level increased (p &lt; 0.05), and as the diameter increased (p &lt; 0.05). Among cutters with the same diameter, the AUV cutter showed higher flow rates than the UV cutter, with increases of 0.267 mL/min (18.5%) at 27 gauge, 0.627 mL/min (20.8%) at 25 gauge, and 1.000 mL/min (20.7%) at 23 gauge (all p &lt; 0.05). The times required to remove 4 mL of egg white took longer with the UV cutter than the AUV cutter for all three gauges (all p &lt; 0.05).</p><p><strong>Conclusions: </strong>The use of a smaller gauge vitreous cutter may reduce the flow rate and increase the time required for vitrectomy, but this can be partially compensated for by increasing the vacuum level as well as using a vitreous cutter with a higher maximum cut rate, improved port size, and improved duty cycle.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":"37 4","pages":"307-313"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/41/80/kjo-2023-0045.PMC10427901.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10018325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial Cataracts: Profile of Patients and Their Families at a Child Eye Care Tertiary Facility in a Developing Country.","authors":"Mary Ogbenyi Ugalahi,&nbsp;Ezinne Obioma Onebunne,&nbsp;Bolutife Ayokunnu Olusanya,&nbsp;Aderonke Mojisola Baiyeroju","doi":"10.3341/kjo.2023.0028","DOIUrl":"https://doi.org/10.3341/kjo.2023.0028","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study is to describe the clinical profile, pedigree charting, and management of children with familial cataracts at a child eye health tertiary facility in southwest Nigeria.</p><p><strong>Methods: </strong>The clinical records of children ≤16 years diagnosed with familial cataracts at the Pediatric Ophthalmology Clinic, University College Hospital Ibadan (Ibadan, Nigeria) from January 1, 2015, to December 31, 2019, were retrospectively reviewed. Information on demographic data, family history, visual acuity, mean refractive error (spherical equivalent), and surgical management was retrieved.</p><p><strong>Results: </strong>The study included 38 participants with familial cataract. The mean age at presentation was 6.30 ± 3.68 years, with a range of 7 months to 13 years. Twenty-five patients (65.8%) were male. All patients had bilateral involvement. The mean duration from onset of symptoms to presentation at the hospital was 3.71 ± 3.20 years, with a range of 3 months to 13 years. In 16 of the 17 pedigree charts obtained, at least one individual was affected in each generation. The most common cataract morphology was cerulean cataract, observed in 21 eyes (27.6%). The most common ocular comorbidity was nystagmus which was observed in seven patients (18.4%). Sixty-seven eyes of 35 children underwent surgery within the period of the study. The proportion of eyes that had best-corrected visual acuity ≥6 / 18 before surgery was 9.1%; this proportion had increased to 52.7% at the last postoperative visit.</p><p><strong>Conclusions: </strong>Autosomal dominant inheritance appears to be the major pattern among our patients with familial cataract. The most common morphological type found in this cohort was cerulean cataract. Genetic testing and counseling services are vital for the management of families with childhood cataract.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":"37 4","pages":"314-321"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e7/a4/kjo-2023-0028.PMC10427905.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10018326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuroprotective Strategies for Nonarteritic Anterior Ischemic Optic Neuropathy: A Systematic Review.","authors":"Brigitta Marcia Budihardja,&nbsp;Erika Anggraini,&nbsp;Rianti Wulandari Pratiwi,&nbsp;Anya Dewi Nastiti,&nbsp;Syntia Nusanti","doi":"10.3341/kjo.2022.0166","DOIUrl":"https://doi.org/10.3341/kjo.2022.0166","url":null,"abstract":"<p><strong>Purpose: </strong>Nonarteritic anterior ischemic optic neuropathy (NAION) is the second most common form of optic neuropathy. Most patients show no improvement over time. Until now, there is still no definitive therapy for NAION. The available literatures on the possible treatment of NAION are quite diverse and controversial. Neuroprotection strategies have been suggested as one of the potential treatments for NAION. This review aims to critically evaluate the literature on neuroprotective strategy for NAION.</p><p><strong>Methods: </strong>This report was written in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analysis) guidelines. We performed a systematic literature search in Pubmed, Science Direct, Proquest, and Cochrane databases. Only neuroprotective agents that directly work in protecting neurons were included. The outcome of interest in this review is retinal ganglion cell density and apoptosis for animal studies and retinal nerve fiber layer thickness for human studies.</p><p><strong>Results: </strong>The systematic search identified 591 studies of which 24 met the eligibility criteria, including 21 animal studies and three human studies. Only a few of the studies evaluated the same treatments, showing how diverse neuroprotector treatments are currently being evaluated as NAION treatment. From 21 animal studies, 14 studies showed significantly higher retinal ganglion cell density (1.49- to 2.81-fold) with neuroprotective treatment compared to control group. Two of three human studies in this review had also found a beneficial effect of preserving retinal nerve fiber layer thickness in NAION patients.</p><p><strong>Conclusions: </strong>This review suggests the potential of neuroprotection as a viable option in the quest for an effective treatment strategy for NAION. Further studies, particularly clinical studies, are necessary to establish its efficacy in NAION patients.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":"37 4","pages":"328-339"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1a/dc/kjo-2022-0166.PMC10427903.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10075263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical Spindle Cell/Pleomorphic Lipomatous Tumor of the Orbit: A Case Report.","authors":"Sung Hyun Ahn,&nbsp;Kyoung Min Kim,&nbsp;Nam Chun Cho,&nbsp;Min Ahn","doi":"10.3341/kjo.2023.0015","DOIUrl":"https://doi.org/10.3341/kjo.2023.0015","url":null,"abstract":"Dear Editor, Atypical spindle cell/pleomorphic lipomatous tumor (ASC/PLT) is a benign adipocytic neoplasm newly classified in the fifth edition of the WHO Classification of Tumors: Soft Tissue and Bone, published in 2020 [1]. Here, we report a case of ASC/PLT, which was diagnosed histopathologically, involving the orbit which is uncommon. A written informed consent for the publication of research details and clinical images was obtained from the patient. A 57-year-old man presented with painless and progressive proptosis of the left eye that had developed 6 months earlier. The patient also complained of intermittent diplopia. He had no ocular disease or medical history. On initial evaluation, he had a best-corrected visual acuity of 25 / 20 in the right eye and 20 / 20 in the left eye, full color vision in both eyes, and no relative afferent pupillary defects. Mild lid swelling and conjunctival chemosis were present in the left eye, with no tenderness or palpable mass (Fig. 1A). Hertel exophthalmometry showed a 16-mm left eye protrusion compared to 14 mm on the right. There were –2-mm limitations to supraduction and abduction in the left eye. Fundoscopic examination results were unremarkable. Thyroid function test results were within the normal range. Computed tomography (CT) of the orbits revealed thickening of the inferior rectus (IR), medial rectus (MR), and lateral rectus (LR) muscles of the left eye and enhancement of soft tissue in the orbit, compatible with nonspecific orbital inflammation, also known as orbital inflammatory pseudotumor and idiopathic orbital inflammation (Fig. 1B). The patient was managed with oral prednisolone (60 mg/ day) for 3 weeks, followed by tapering for 4 weeks, but it was not effective. Orbital MRI showed severe enlargement of the IR and mild thickening of the MR and LR with hyperintensity on T2-weighted imaging, revealing extension of the infiltrating lesion into the preseptal space of the lower eyelid, which was suspected to be a lymphoma (Fig. 1C). Three biopsies were performed in other facilities over 6 months on the demand of the patient, and a lipomatous tumor was only diagnosed on the third result. The patient returned to our hospital and was followed up for over 2 years. During this period, the patient maintained relatively good vision but complained of slightly worsening diplopia and limitation of supraduction of the left eye. Repeat CT demonstrated progression of the disease, and the decision was made to proceed with orbitotomy for the fourth biopsy to make an accurate diagnosis (Fig. 1D). All biopsies were performed from the mass infiltrating orbit (Fig. 1C). The pathology of the specimen showed that mature adipose cells were present between skeletal muscle fibers. The tumor was primarily composed of spindle cells, with some cells showing atypia. The immunohistochemical stains of MDM2 and CDK4 showed negative. A diagnosis of an Received: February 8, 2023 Final revision: June 26, 2023 Accepted: July 2, ","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":"37 4","pages":"350-351"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/83/73/kjo-2023-0015.PMC10427908.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10035043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Genetic Findings in Korean Patients with Choroideremia.","authors":"Woo Gyeong Jo,&nbsp;Christopher Seungkyu Lee,&nbsp;Jinu Han","doi":"10.3341/kjo.2023.0020","DOIUrl":"https://doi.org/10.3341/kjo.2023.0020","url":null,"abstract":"<p><strong>Purpose: </strong>We share and analyze the clinical presentations and genotypes of Korean male patients and female carriers who visited our clinic.</p><p><strong>Methods: </strong>Six male patients and three female carriers with comprehensive ophthalmic examinations and next-generation sequencing were included. Detailed clinical features were identified using visual field (VF) test and multimodal imaging including color fundus photography, fundus autofluorescence (FAF), and optical coherence tomography (OCT).</p><p><strong>Results: </strong>Six male patients were diagnosed with choroideremia at the median age of 25 years. Before genetic testing, three patients (50.0%) were clinically diagnosed with choroideremia, while the other three patients (50.0%) with retinitis pigmentosa. Patients showed different types of hemizygous CHM variants, including two nonsense variants, c.715C&gt;T:p.(Arg239*) and c.799C&gt;T:p.(Arg267*); two frameshift variants, c.1584_1587del:p.(Val529Hisfs*7) and c.403_404del:p.(Asp135Phefs*9); one splicing variant c.1511-28_1511-2del; and one exon 2-8 duplication. The latter three variants were novel. Two female carriers had heterozygous exon 2-8 duplication and the other one female carrier had heterozygous nonsense variant c.715C&gt;T:p. (Arg239*). Fundus showed diffuse yellow-whitish scleral reflex and granular pigmented lesions. FAF showed multiple patchy hypofluorescence lesions, sparing macula. OCT showed thinning of outer nuclear layer, ellipsoid zone, retinal pigment epithelium layer, choroid thickness, interlaminar bridges, outer retinal tubulations, and microcysts in the inner nuclear layer. VF showed ring scotoma pattern with small amount of remaining central field. Asymptomatic female carriers showed variable fundus findings and mild changes in OCT.</p><p><strong>Conclusions: </strong>A detailed description of the genotypes with three novel mutations and phenotypes of six choroideremia patients and three CHM mutation female carriers are presented.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":"37 4","pages":"285-291"},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9b/6f/kjo-2023-0020.PMC10427899.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10154826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}