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The First Korean Child of Jalili Syndrome with a Novel Missense Mutation in Cation Transport Mediator 4 (CNNM4): A Case Report. 韩国首例携带新型阳离子转运介质4 (CNNM4)错义突变的贾利利综合征患儿:1例报告。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.3341/kjo.2022.0144
Ji Hye Lee, Ji Sook Yim, Myung Shin Kim, Sin-Young Kim, Shin Hae Park
Dear Editor, Jalili syndrome is an extremely rare autosomal recessive disorder with two major ocular and dental features: conerod dystrophy and amelogenesis imperfecta [1]. Patients often have poor visual acuity, photophobia, nystagmus, and absent color vision. Since the first case report in 1988, the metal cation transport mediator 4 (CNNM4) gene residing at chromosome locus 2q11.2 is discovered to be a causative gene of Jalili syndrome in 2009 [2,3]. We report the first Korean case of Jalili syndrome carrying compound heterozygous causative variants with a novel missense variant in CNNM4. A 7-year-old boy visited Seoul St. Mary’s Hospital with uncorrected vision. He was the first baby of nonconsanguineous parents and was born at 38 weeks gestation with a birth weight of 3.35 kg. There was no previous family history of ocular, systemic, or chromosomal disorders. He had a mild hyperopic refractive error of +1.5 diopters. He had been wearing glasses for several years, but his best-corrected visual acuity was 20 / 200 in both eyes. Photophobia and slow pendular nystagmus were also observed. Fundus examination revealed a normal-looking optic disc and macula (Fig. 1A, 1B). Whereas widefield fundus photography and fundus autofluorescence did not reveal any definite abnormalities, the blurring of ellipsoid zone was noted on optical coherence tomography (Fig. 1C–1F). A full-field electroretinogram (RETI-scan, Roland Consult) showed severely reduced responses in the cone and rod systems in both eyes (Fig. 1G). After obtaining written informed consent from his parents, next-generation sequencing (NGS) was performed for the genetic analysis. Targeted panel sequencing was done with 439 genes, which were reported as being related to inherited retinal dystrophy. Subsequently, compound heterozygous missense variants of c.1511T>G, p.(Ile504Ser), and c.344T>C, p.(Leu115Pro) in the CNNM4 (reference sequence, NM_020184.4) were identified. The c.1511T>G, p.(Ile504Ser), is in the cystathionine-β-synthase domain which is evolutionarily conserved and known to play essential roles in the regulation of the activities of numerous proteins (PMID: 31347285, 16275737, 14722619). Population frequencies were extremely low (0.0000544 in East Asian populations and 0.00000398 in all ethnicities, according to gnomAD exome), and the variant was predicted to have a deleterious effect by multiple line in silico tools, including MutationTaster [4], PolyPhen-2 [5], and SIFT [6]. Based on these facts, we classified the mutation as likely pathogenic according to the American College of Medical Genetics and Genomics guidelines. A c.344T>C variant has never been reported in a population database. It causes a p.(Leu115Pro) amino acid change, and this position is conserved (phyloP100way, 6.03); multiple in silico tools such as FATHMM-MKL [7], MutationTaster [4], and PolyPhen-2 [5] predicted a deleterious effect by affecting the protein synthetic process. A parental testing, which was perfor
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引用次数: 0
Scleral Lens Applications Focused on Korean Patients with Various Corneal Disorders. 巩膜晶状体在韩国各种角膜疾病患者中的应用
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.3341/kjo.2022.0164
Ko Eun Lee, Su Young Moon, Sanghyu Nam, Joon Hyuck Jang, Jae Yong Kim, Hungwon Tchah, Hun Lee

Purpose: We aimed to report on the clinical outcomes of scleral lens applications in Korean patients with various corneal disorders.

Methods: This retrospective review was conducted for 62 eyes of 47 patients who had been fitted with scleral lenses for various corneal disorders. The patients were referred for inadequate spectacle-corrected visual acuity and rigid gas permeable (RGP) or soft contact lens intolerance. Uncorrected visual acuity, habitually corrected visual acuity, best lens-corrected visual acuity, topographic indices, keratometry indices, and lens parameters were evaluated.

Results: Twenty-six eyes of 19 patients with keratoconus were enrolled. Other conditions included corneal scar (13 eyes of 12 patients), phlyctenules (three eyes), laceration (four eyes), chemical burn (one eye), keratitis (one eye), Peters' anomaly (one eye), fibrous dysplasia (one eye), ocular graft-versus-host disease (two eyes of one patient), irregular astigmatism (18 eyes of 12 patients), and corneal transplant status (five eyes of four patients). The mean topographic values of the eyes include flat keratometric value (43.0 ± 6.1 diopters [D]), steep keratometric value (48.0 ± 7.4 D), and astigmatism (4.9 ± 3.6 D). Of the eyes fitted with scleral lenses, best lens-corrected visual acuity (0.10 ± 0.22 logarithm of the minimum angle of resolution [logMAR]) was significantly better than the habitually corrected visual acuity (0.59 ± 0.62 logMAR, p < 0.001).

Conclusions: Scleral contact lenses are a good alternative for patients with corneal abnormalities and those who are intolerable to RGP contact lenses, resulting in both successful visual outcomes and patient satisfaction, especially concerning keratoconus, corneal scar, and corneal transplant status.

目的:我们旨在报道巩膜晶状体应用于韩国各种角膜疾病患者的临床结果。方法:对47例62眼的角膜病变患者进行回顾性分析。患者因矫正视力不佳、硬性透气性(RGP)或软性隐形眼镜不耐受而被转诊。评估未矫正视力、习惯性矫正视力、最佳晶状体矫正视力、地形指标、角膜测量指标和晶状体参数。结果:纳入19例圆锥角膜患者26只眼。其他情况包括角膜瘢痕(12例13眼)、结节(3眼)、撕裂(4眼)、化学烧伤(1眼)、角膜炎(1眼)、彼得斯异常(1眼)、纤维发育不良(1眼)、眼部移植物抗host病(1例2眼)、不规则散光(12例18眼)和角膜移植状态(4例5眼)。眼睛的平均地形值包括平角膜屈光度(43.0±6.1屈光度[D])、陡角膜屈光度(48.0±7.4 D)和散光(4.9±3.6 D)。配戴巩膜晶状体的最佳晶状体矫正视力(最小分辨角[logMAR]的0.10±0.22对数)明显优于习惯矫正视力(0.59±0.62 logMAR, p < 0.001)。结论:巩膜隐形眼镜是角膜异常患者和对RGP隐形眼镜不能耐受的患者的良好选择,其视力效果和患者满意度都很好,特别是在圆锥角膜、角膜疤痕和角膜移植情况方面。
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引用次数: 0
Possibility of Neurological Diseases Associated with Acute Acquired Comitant Esotropia. 神经系统疾病与急性获得性共同性内斜视相关的可能性。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.3341/kjo.2022.0112
Mayuree Montriwet

Purpose: This study investigated the possibility of neurological etiologies causing acute acquired comitant esotropia (AACE) and to evaluate the differences in clinical features between younger children, older children, and adults.

Methods: In this retrospective analysis, patients who had been diagnosed with AACE between July 2017 and June 2021 were included. Data on clinical findings, medical history, brain or orbital imaging, and ophthalmological and orthoptic examinations were retrieved from medical records and analyzed. Patients were divided into three groups based on their age: younger children (<10 years), older children (10-18 years), and adults (>18 years).

Results: Overall, 41 patients with AACE (15 females and 26 males) were examined. Most patients were children. Mild hyperopia was observed in children, while adults had moderate to high myopia. The mean angle of esotropia at a distance fixation was 43.57 ± 9.77, 51.54 ± 8.75, and 30.14 ± 12.39 prism diopters (PD) in younger children, older children, and adult groups, respectively. The mean angle of esotropia at a near fixation was 43.57 ± 9.37, 51.15 ± 9.39, and 31.43 ± 12.15 PD in younger children, older children, and adult groups, respectively. Significant differences were found in the mean angles of esotropia in patients with AACE at both near and far distances according to their age (all p < 0.001). Among 36 patients with previous neuroimaging data, none had AACE secondary to intracranial lesions. Over 2 years, five patients who were under continuous observation did not develop any neurological abnormalities.

Conclusions: AACE was more common in children than in adults. The angle of deviation was larger in children than in adults. Coexisting or underlying neurological diseases were not present in patients with isolated AACE, which eliminated the need for neuroimaging. Continuous follow-up evaluations are warranted when signs of intracranial disease are observed in patients who have not undergone an imaging investigation.

目的:本研究探讨急性获得性共同性内斜视(AACE)的神经学病因的可能性,并评估幼儿、大龄儿童和成人之间临床特征的差异。方法:在这项回顾性分析中,纳入了2017年7月至2021年6月期间被诊断为AACE的患者。从医疗记录中检索临床表现、病史、脑或眶成像、眼科和正视检查数据并进行分析。患者根据年龄分为三组:年龄较小的儿童(18岁)。结果:共检查了41例AACE患者,其中女性15例,男性26例。大多数病人是儿童。儿童轻度远视,成人中度至高度近视。小童、大龄儿童和成年组远视内斜角平均分别为43.57±9.77、51.54±8.75和30.14±12.39棱镜屈光度(PD)。小童、大龄儿童和成人近固定时内斜视平均角度分别为43.57±9.37、51.15±9.39和31.43±12.15 PD。AACE患者在近距离和远距离的平均内斜视角度根据年龄有显著差异(均p < 0.001)。在36例既往神经影像学资料患者中,没有一例继发于颅内病变的AACE。5例患者连续观察2年,未出现任何神经系统异常。结论:AACE在儿童中比成人更常见。儿童的偏斜角大于成人。孤立性AACE患者不存在共存或潜在的神经系统疾病,因此无需神经影像学检查。如果在未接受影像学检查的患者中观察到颅内疾病的迹象,则需要进行持续的随访评估。
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引用次数: 0
Thyrotropin Receptor Autoantibody Assessment in Thyroid Eye Disease: Does the Assay Type Matter? 甲状腺眼病促甲状腺素受体自身抗体评估:检测类型重要吗?
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.3341/kjo.2022.0131
Malik Moledina, Jonathan Roos, Rachna Murthy

Purpose: Thyroid receptor antibodies can quantify thyroid eye disease activity, predict outcomes and aid timing of interventions. The type and generation of assay is frequently unspecified, complicating meta-analyses. To determine the clinical and biochemical relationships between a second-generation thyrotropin receptor-binding inhibition antibody (TRAb) immunoassay, detecting stimulatory and blocking antibodies, with the thyroid stimulating immunoglobulin (TSI) bridging immunoassay detecting the stimulatory component only.

Methods: Retrospective review of 100 consecutive patients attending a regional specialist service. For each patient and visit, both a TRAb and TSI were performed, and a clinical activity score (CAS) recorded.

Results: A significant positive correlation between TRAb and TSI (rho = 0.828, p < 0.01) but a weaker correlation between the assays and CAS (TRAb: rho = 0.439, p < 0.01; TSI: r = 0.357, p < 0.01) were found. In 10% of the episodic data, patients had a TRAb level that was disproportionately high (39.41 ± 52.84 IU/L), compared to their TSI levels (9.53 ± 12.10 IU/L) with a higher-than-average CAS (2.47 ± 1.78; range, 0-5). Within 12 months of diagnosis, a significant positive correlation between CAS and TRAb (rho = 0.503, p < 0.01) as well as between CAS and TSI (rho = 0.329, p < 0.01) were found. In patients with a diagnosis over 12 months, the correlation with CAS for both TSI and TRAb were Spearman rank correlation coefficient of 0.347 (p < 0.01) and 0.327 (p < 0.01), respectively.

Conclusions: TRAb and TSI correlate strongly and to a lesser extent with the CAS. For most patients, TRAb can be replaced with the more economical TSI. TRAb also correlates better with newly diagnosed, more active patients than TSI. In a subset of patients, blocking antibodies may play a significant pathogenic role, requiring different treatment and monitoring. Further studies are required to investigate this relationship.

目的:甲状腺受体抗体可以量化甲状腺眼病的活动性,预测预后并帮助干预时机。化验的类型和产生往往不明确,使荟萃分析复杂化。确定第二代促甲状腺激素受体结合抑制抗体(TRAb)免疫分析法检测刺激和阻断抗体与促甲状腺免疫球蛋白(TSI)桥接免疫分析法仅检测刺激成分之间的临床和生化关系。方法:对连续100例在某地区专科就诊的患者进行回顾性分析。对于每位患者和每次就诊,均进行TRAb和TSI检查,并记录临床活动评分(CAS)。结果:TRAb与TSI呈显著正相关(rho = 0.828, p < 0.01),与CAS呈弱相关(TRAb: rho = 0.439, p < 0.01;TSI: r = 0.357, p < 0.01)。在10%的发作性数据中,与TSI水平(9.53±12.10 IU/L)相比,患者的TRAb水平过高(39.41±52.84 IU/L),且高于平均CAS(2.47±1.78;范围0 - 5)。诊断12个月内,CAS与TRAb (rho = 0.503, p < 0.01)、CAS与TSI (rho = 0.329, p < 0.01)呈显著正相关。在诊断超过12个月的患者中,TSI和TRAb与CAS的相关性为Spearman秩相关系数分别为0.347 (p < 0.01)和0.327 (p < 0.01)。结论:TRAb和TSI与CAS密切相关,但在较小程度上相关。对于大多数患者,TRAb可以用更经济的TSI代替。与TSI相比,TRAb与新诊断的更活跃的患者的相关性更好。在一部分患者中,阻断抗体可能起重要的致病作用,需要不同的治疗和监测。需要进一步的研究来调查这种关系。
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引用次数: 0
Correlation between Interocular Asymmetry of Corneal Hysteresis and Visual Field Defect in Glaucoma. 青光眼眼间角膜迟滞不对称性与视野缺损的关系。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.3341/kjo.2022.0120
Eun Jung Choi, Kyung Nam Kim, Mi Yeon Song, Young Hoon Hwang

Purpose: To evaluate the relationship between interocular asymmetries of corneal hysteresis (CH) and visual field defects in Korean patients with glaucoma.

Methods: A total of 444 eyes from 222 participants with glaucoma in at least one eye were enrolled. CH was measured using an ocular response analyzer (Reichert Technologies Inc). Eyes of each participant were classified into "better eye" and "worse eye" based on the mean deviation (MD) value of visual field test. The correlation between interocular differences in intraocular pressure, axial length, central corneal thickness, CH, and MD values was evaluated using Spearman correlation analysis. To exclude the possible effect of antiglaucoma medication on corneal properties, additional analyses were performed on eyes without any glaucoma treatment at the time of CH measurement (treatment-naive group).

Results: Median (interquartile range) MD value was -3.71 dB (-6.87 to -1.30 dB) in the better eye and -10.20 dB (-16.32 to -5.62 dB) in the worse eye. When the correlation between the asymmetry of the MD value and asymmetry of intraocular pressure, axial length, central corneal thickness, and CH were evaluated, only interocular differences in CH were significantly associated with interocular differences in MD values (rho = 0.214, p = 0.001). Among the 222 participants, 60 (27.0%) were treatment-naive group. In these eyes, interocular differences in CH were also significantly associated with interocular differences in the MD values (rho = 0.285, p = 0.029).

Conclusions: The interocular asymmetry of CH was significantly correlated with the interocular asymmetry of visual field defects in glaucoma.

目的:探讨韩国青光眼患者角膜迟滞(CH)眼间不对称与视野缺损的关系。方法:222名至少有一只眼睛患有青光眼的参与者共444只眼睛被纳入研究。使用眼反应分析仪(Reichert Technologies Inc)测量CH。根据视野测试的平均偏差(MD)值将被试眼睛分为“较好眼”和“较差眼”。使用Spearman相关分析评估眼内压、眼轴长度、角膜中央厚度、CH和MD值的眼间差异之间的相关性。为了排除抗青光眼药物对角膜特性的可能影响,在测量CH时对未接受任何青光眼治疗的眼睛(未接受治疗组)进行了额外的分析。结果:好眼MD值中位数为-3.71 dB (-6.87 ~ -1.30 dB),差眼MD值中位数为-10.20 dB (-16.32 ~ -5.62 dB)。当评估MD值的不对称性与眼压、眼轴长度、角膜中央厚度和CH的不对称性之间的相关性时,只有CH的眼间差异与MD值的眼间差异有显著相关性(rho = 0.214, p = 0.001)。222例患者中,未治疗组60例(27.0%)。在这些眼中,CH的眼间差异也与MD值的眼间差异显著相关(rho = 0.285, p = 0.029)。结论:青光眼CH眼间不对称与视野缺损眼间不对称有显著相关。
{"title":"Correlation between Interocular Asymmetry of Corneal Hysteresis and Visual Field Defect in Glaucoma.","authors":"Eun Jung Choi,&nbsp;Kyung Nam Kim,&nbsp;Mi Yeon Song,&nbsp;Young Hoon Hwang","doi":"10.3341/kjo.2022.0120","DOIUrl":"https://doi.org/10.3341/kjo.2022.0120","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the relationship between interocular asymmetries of corneal hysteresis (CH) and visual field defects in Korean patients with glaucoma.</p><p><strong>Methods: </strong>A total of 444 eyes from 222 participants with glaucoma in at least one eye were enrolled. CH was measured using an ocular response analyzer (Reichert Technologies Inc). Eyes of each participant were classified into \"better eye\" and \"worse eye\" based on the mean deviation (MD) value of visual field test. The correlation between interocular differences in intraocular pressure, axial length, central corneal thickness, CH, and MD values was evaluated using Spearman correlation analysis. To exclude the possible effect of antiglaucoma medication on corneal properties, additional analyses were performed on eyes without any glaucoma treatment at the time of CH measurement (treatment-naive group).</p><p><strong>Results: </strong>Median (interquartile range) MD value was -3.71 dB (-6.87 to -1.30 dB) in the better eye and -10.20 dB (-16.32 to -5.62 dB) in the worse eye. When the correlation between the asymmetry of the MD value and asymmetry of intraocular pressure, axial length, central corneal thickness, and CH were evaluated, only interocular differences in CH were significantly associated with interocular differences in MD values (rho = 0.214, p = 0.001). Among the 222 participants, 60 (27.0%) were treatment-naive group. In these eyes, interocular differences in CH were also significantly associated with interocular differences in the MD values (rho = 0.285, p = 0.029).</p><p><strong>Conclusions: </strong>The interocular asymmetry of CH was significantly correlated with the interocular asymmetry of visual field defects in glaucoma.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":"37 2","pages":"112-119"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/78/0c/kjo-2022-0120.PMC10151164.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9402750","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}
引用次数: 1
Clinical Outcomes of Intrascleral Fixation of Intraocular Lens Compared to Ciliary Sulcus Implantation and Transscleral Fixation. 人工晶状体巩膜内固定术与睫状沟植入术和经巩膜固定术的临床效果比较。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.3341/kjo.2022.0093
Eun Gyu Yoon, Youngsub Eom, Minji Woo, Hyun Sun Jeon, Seong-Jae Kim, Jong Suk Song, Hyo Myung Kim

Purpose: To compare the clinical outcomes of intrascleral fixation of the three-piece intraocular lenses (IOLs) 2.5 mm posterior to the limbus with ciliary sulcus implantation and transscleral fixation 2.5 mm posterior to the limbus.

Methods: Sixty-five eyes of 65 patients who underwent ciliary sulcus implantation or transscleral or intrascleral fixation of the AMO Sensar AR40e IOL were retrospectively reviewed. The postoperative refractive prediction error, back-calculated effective lens position (ELP), corrected distance visual acuity (CDVA), and postoperative residual cylinder were compared.

Results: There were significant differences in the median (interquartile range) postoperative refractive prediction error (diopters [D]) among the three groups (p < 0.001): for ciliary sulcus implantation (33 eyes), -0.89 D (-1.21 to -0.56 D); for transscleral fixation (10 eyes), -0.40 D (-0.78 to -0.22 D); and for intrascleral fixation (22 eyes), 0.01 D (-0.28 to 0.34 D). Significant differences (p < 0.001) were observed in the median back-calculated ELP: for ciliary sulcus implantation, 4.35 mm (3.95 to 4.55 mm); for transscleral fixation, 4.51 mm (4.34 to 4.76 mm); and for intrascleral fixation, 4.90 mm (4.56 to 5.35 mm). There were no differences in the median postoperative CDVA (0, 0.10, and 0 logarithm of the minimum angle of resolution, respectively; p = 0.083) and the residual cylinder (-0.75, -1.50, and -0.63 D, respectively; p = 0.074) among three groups.

Conclusions: Intrascleral fixation showed no myopic shift and the most posterior lens position, while ciliary sulcus implantation induced the greatest myopic shift and the most anterior lens position. However, there was no significant difference in the postoperative CDVA or astigmatism among the eyes with different IOL insertion methods, demonstrating good IOL stability and vision outcomes.

目的:比较睫状沟植入术和经巩膜植入术在角膜缘后2.5 mm三片人工晶状体巩膜内固定的临床效果。方法:对65例经睫状沟植入术或经巩膜或巩膜内固定的AMO Sensar AR40e人工晶状体患者65眼进行回顾性分析。比较术后屈光预测误差、后算有效晶状体位置(ELP)、矫正距离视力(CDVA)和术后残柱。结果:三组患者术后屈光预测误差中位数(四分位间距)(diopters [D])差异有统计学意义(p < 0.001):睫状沟植入术(33眼)为-0.89 D (-1.21 ~ -0.56 D);经巩膜固定(10眼),-0.40 D (-0.78 ~ -0.22 D);巩膜内固定(22眼)为0.01 D (-0.28 ~ 0.34 D)。中位背算ELP差异显著(p < 0.001):睫状沟植入术为4.35 mm (3.95 ~ 4.55 mm);经巩膜固定:4.51 mm (4.34 ~ 4.76 mm);巩膜内固定为4.90 mm (4.56 ~ 5.35 mm)。术后中位CDVA无差异(分别为最小分辨角的0、0.10和0对数);p = 0.083)和残柱(-0.75、-1.50、-0.63 D);P = 0.074)。结论:巩膜内固定无近视移位,晶状体位置最后侧;睫状沟植入术近视移位最大,晶状体位置最前侧。不同人工晶状体植入方式的眼术后CDVA和散光无明显差异,表明人工晶状体的稳定性和视力效果良好。
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引用次数: 0
Inverted Mucoepidermoid Papilloma: A Case Report. 内翻性粘液表皮样乳头状瘤1例报告。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.3341/kjo.2022.0121
Hyunchul Jeong, Namju Kim
Dear Editor, Inverted mucoepidermoid papilloma is a rare benign epithelial tumor. There have been six cases reported worldwide and here, we would like to introduce the first case of the inverted mucoepidermoid papilloma of conjunctiva in Korea. Written informed consent for publication of the clinical images was obtained from the patient. A 56-year-old man presented with right conjunctival mass found 2 months ago. He had no other underlying diseases except hypertension. His corrected visual acuity was 20 / 16 in both eyes. About 0.5 × 0.3-cm-sized pigmented and vascularized pedunculated mass was seen over the right inferior palpebral conjunctiva (Fig. 1A). The mass was soft and painless in nature. An excisional biopsy was performed, and the brownish sample was measured 0.5 × 0.3 × 0.2 cm. Histopathologic examination showed a single fragment lined by stratified squamous cells, with downward extension of conjunctival epithelium (Fig. 1B, 1C). Cystic components were visible in the lobules of nonkeratinizing squamous epithelium. Many goblet cells were found. No definite evidence of inflammation, dysplasia, and necrosis was found. Heuring et al. [1] reported peripheral carcinomatous foci within the lesion in their case of inverted transitional cell papilloma, whereas there was no evidence of malignancy in this case. On follow-up examination, his tarsal conjunctiva of the right lower lid was clear without remaining pigmented lesion (Fig. 1D). No recurrence was reported in up to 6 months of follow-up. Inverted papilloma is less common compared to exophytic papilloma in conjunctiva, with epithelium invaginating into the substantia propria endophytically. It is usually found in nasal cavity or paranasal sinuses, and there have been some case reports regarding local recurrence and malignant transformation of the tumor [2]. On histopathologic examination, inverted papilloma involving conjunctiva quite differ from inverted papilloma of other sites, featuring distinct cystic components within acanthotic lobules. Based on this finding, Jakobiec et al. [3] recommended the term inverted mucoepidermoid papilloma. Since inverted mucoepidermoid papilloma can be misdiagnosed as conjunctival nevus or malignant melanoma, definitive diagnosis should be made by histopathologic examination. There is no report on local recurrence or malignant transformation of inverted mucoepidermoid papilloma in conjunctiva, though there is no data on long-term follow-up of inverted mucoepidermoid papilloma over 5 years due to the rarity of the subtype [4]. In conclusion, we present a first case of inverted mucoepidermoid papilloma of conjunctiva in South Korea, which is an exceedingly rare neoplasm. Although inverted mucoepidermoid papilloma is extremely rare, it should be considered as a differential diagnosis of pigmented conjunctival mass.
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引用次数: 0
Deep Learning-based Prediction of Axial Length Using Ultra-widefield Fundus Photography. 基于深度学习的超宽视场眼底摄影轴向长度预测。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.3341/kjo.2022.0059
Richul Oh, Eun Kyoung Lee, Kunho Bae, Un Chul Park, Hyeong Gon Yu, Chang Ki Yoon

Purpose: To develop a deep learning model that can predict the axial lengths of eyes using ultra-widefield (UWF) fundus photography.

Methods: We retrospectively enrolled patients who visited the ophthalmology clinic at the Seoul National University Hospital between September 2018 and December 2021. Patients with axial length measurements and UWF images taken within 3 months of axial length measurement were included in the study. The dataset was divided into a development set and a test set at an 8:2 ratio while maintaining an equal distribution of axial lengths (stratified splitting with binning). We used transfer learning-based on EfficientNet B3 to develop the model. We evaluated the model's performance using mean absolute error (MAE), R-squared (R2), and 95% confidence intervals (CIs). We used vanilla gradient saliency maps to illustrate the regions predominantly used by convolutional neural network.

Results: In total, 8,657 UWF retinal fundus images from 3,829 patients (mean age, 63.98 ±15.25 years) were included in the study. The deep learning model predicted the axial lengths of the test dataset with MAE and R2 values of 0.744 mm (95% CI, 0.709-0.779 mm) and 0.815 (95% CI, 0.785-0.840), respectively. The model's accuracy was 73.7%, 95.9%, and 99.2% in prediction, with error margins of ±1.0, ±2.0, and ±3.0 mm, respectively.

Conclusions: We developed a deep learning-based model for predicting the axial length from UWF images with good performance.

目的:建立一种深度学习模型,利用超广角眼底摄影技术预测眼球轴向长度。方法:回顾性纳入2018年9月至2021年12月在首尔国立大学医院眼科门诊就诊的患者。测量轴长并在测量轴长3个月内拍摄UWF图像的患者被纳入研究。数据集以8:2的比例分为开发集和测试集,同时保持轴向长度的均匀分布(分层分割与分箱)。我们使用基于effentnet B3的迁移学习来开发模型。我们使用平均绝对误差(MAE)、r平方(R2)和95%置信区间(CIs)来评估模型的性能。我们使用香草梯度显著性图来说明卷积神经网络主要使用的区域。结果:共纳入3829例(平均年龄63.98±15.25岁)UWF视网膜眼底图像8657张。深度学习模型预测测试数据集轴向长度的MAE和R2值分别为0.744 mm (95% CI, 0.709-0.779 mm)和0.815 (95% CI, 0.785-0.840)。模型预测准确率分别为73.7%、95.9%和99.2%,误差范围分别为±1.0、±2.0和±3.0 mm。结论:我们开发了一个基于深度学习的模型来预测UWF图像的轴向长度,并且具有良好的性能。
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引用次数: 2
Surgical Outcomes of Vitrectomy for Primary Treatment of Rhegmatogenous Retinal Detachment in Patients with Atopic Dermatitis. 玻璃体切除术治疗特应性皮炎患者孔源性视网膜脱离的初步疗效。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.3341/kjo.2022.0103
Kyung Ho Lee, Yoo-Ri Chung, Ha Ryung Park, Tae Kyoung Woo, Kihwang Lee

Purpose: To investigate the clinical results of vitrectomy alone as the primary treatment for rhegmatogenous retinal detachment (RD) in patients with atopic dermatitis (AD).

Methods: The medical records of patients with AD treated for rhegmatogenous retinal detachment (RD) were retrospectively reviewed. We investigated the characteristics of retinal breaks and detachments, applied surgical methods, and results.

Results: Twenty eyes of 14 patients with AD who presented with rhegmatogenous RD and treated by vitrectomy were included in this analysis. Sixteen eyes (80%) were treated with vitrectomy, either alone or in combination with cataract surgery, and the retina was successfully attached to 94% of the eyes. There were four cases in which vitrectomy was combined with encircling. Reoperation was needed in half of the eyes that received vitrectomy with encircling, which presented nearly total detachment, severe proliferative vitreoretinopathy, and pseudophakia.

Conclusions: Vitrectomy alone, in combination with cataract surgery, may be sufficient to treat rhegmatogenous RD in patients with AD. Additional encircling or buckling should still be considered in complicated cases.

目的:探讨单纯玻璃体切除术治疗特应性皮炎(AD)患者孔源性视网膜脱离(RD)的临床效果。方法:回顾性分析AD患者因孔源性视网膜脱离(RD)治疗的病历。我们研究了视网膜断裂和脱离的特点,应用手术方法和结果。结果:14例以孔源性RD为表现并行玻璃体切除术的AD患者共20只眼纳入分析。16只眼睛(80%)接受了玻璃体切除术,无论是单独的还是联合白内障手术,94%的眼睛成功地附着了视网膜。玻璃体切除联合包皮术4例。有一半的眼行玻璃体环切术,出现了几乎完全脱离,严重的增殖性玻璃体视网膜病变和假性晶状体。结论:单纯玻璃体切除联合白内障手术可能足以治疗AD患者的孔源性RD。在复杂的情况下,仍应考虑额外的环绕或屈曲。
{"title":"Surgical Outcomes of Vitrectomy for Primary Treatment of Rhegmatogenous Retinal Detachment in Patients with Atopic Dermatitis.","authors":"Kyung Ho Lee,&nbsp;Yoo-Ri Chung,&nbsp;Ha Ryung Park,&nbsp;Tae Kyoung Woo,&nbsp;Kihwang Lee","doi":"10.3341/kjo.2022.0103","DOIUrl":"https://doi.org/10.3341/kjo.2022.0103","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the clinical results of vitrectomy alone as the primary treatment for rhegmatogenous retinal detachment (RD) in patients with atopic dermatitis (AD).</p><p><strong>Methods: </strong>The medical records of patients with AD treated for rhegmatogenous retinal detachment (RD) were retrospectively reviewed. We investigated the characteristics of retinal breaks and detachments, applied surgical methods, and results.</p><p><strong>Results: </strong>Twenty eyes of 14 patients with AD who presented with rhegmatogenous RD and treated by vitrectomy were included in this analysis. Sixteen eyes (80%) were treated with vitrectomy, either alone or in combination with cataract surgery, and the retina was successfully attached to 94% of the eyes. There were four cases in which vitrectomy was combined with encircling. Reoperation was needed in half of the eyes that received vitrectomy with encircling, which presented nearly total detachment, severe proliferative vitreoretinopathy, and pseudophakia.</p><p><strong>Conclusions: </strong>Vitrectomy alone, in combination with cataract surgery, may be sufficient to treat rhegmatogenous RD in patients with AD. Additional encircling or buckling should still be considered in complicated cases.</p>","PeriodicalId":17883,"journal":{"name":"Korean Journal of Ophthalmology : KJO","volume":"37 2","pages":"105-111"},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/99/b9/kjo-2022-0103.PMC10151170.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9402752","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}
引用次数: 0
Acute Exacerbation of Conjunctival Papilloma after High-frequency Radio Wave Electrosurgery for Conjunctivochalasis: A Case Report. 高频无线电波电手术治疗结膜松弛后结膜乳头状瘤急性加重1例报告。
Q3 Medicine Pub Date : 2023-04-01 DOI: 10.3341/kjo.2022.0152
Dae Sung Kim, Yeon Hee Choi, Yoo Jung Kim, Min Ho Kang
Dear Editor, Conjunctivochalasis (CCH) is a chronic loosening of the conjunctiva that occurs significantly in the inferior bulbar conjunctiva. High-frequency radio wave electrosurgery is a surgical procedure for the treatment of CCH. There are fewer complications related to postoperative discomfort and suture; only minor complications, such as subconjunctival hemorrhage and chemosis, have been reported [1,2]. To the best of our knowledge, this is the first report of an human papillomavirus (HPV)-positive conjunctival papilloma in a patient who underwent high-frequency radio wave electrosurgery. Written informed consent for publication of the research details and clinical images was obtained from the patient. A 78-year-old Asian woman visited the outpatient with not having shed tears for 3 years and had irritation in both eyes, was treatmented for dry eye at a private hospital, but did not improve, so she visited Hanyang University Guri Hospital. On examination, she exhibited bilateral CCH. Conjunctival hyperemia, conjunctiva and plica semilunaris thickening, papillomatous lesion, and abnormal blood vessels were not visible in the conjunctiva (Fig. 1A, 1B). Even with proper dry eye treatment, the symptoms did not improve even after a month. Therefore, high-frequency radio electric surgery for CCH was planned and performed. Postsurgery, artificial tears, 0.1% f luorometholone, and 0.5% levofloxacin were instilled in both eyes four times a day. Two months after electrosurgery, the patient presented with hyperemia of both eyes and a burning sensation. She had a grayish-red, fleshy, and irregular surfaces on the inferior bulbar conjunctiva in the right eye. The left eye showed several small pedunculated masses in the inferior bulbar conjunctiva (Fig. 1C, 1D). Excisional biopsy was performed, and histological examination showed atypical squamous proliferation, moderate dysplasia, with a positive polymerase chain reaction (PCR) for HPV (low-risk type 11). Immunohistochemistry revealed that the right eye was p16-positive, p53-positive (15%), and Ki-67–positive (20%); the left eye was p16-negative, p53-positive (2%), and Ki-67–positive (10%) (Fig. 1E–1H). Topical mitomycin C 0.02% drops (four times a day for a week) were prescribed for both eyes. The drops were administered for a week, followed by a week of rest. Existing small recurrent lesions were resected during follow-up. As a result of observation after 5 months, no recurrence lesion was observed. Conjunctival papilloma is an acquired benign tumor that occurs in the stratified squamous epithelium of the conjunctiva. Exposure to solar ultraviolet radiation B is an important risk factor, and other risk factors include immunosuppression and the presence of HPV [3]. Patients with conjunctival intraepithelial neoplasia, conjunctival carcinoma in situ, or conjunctival squamous carcinoma showed HPV-positivity by PCR in 21% of primary tumors and 36% cases of recurrence [4]. In order for HPV to infect basal
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引用次数: 0
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Korean Journal of Ophthalmology : KJO
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