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Virtual reality field testing in children with normal eyes and glaucoma: comparison of game-based versus Humphrey visual field–equivalent algorithms 正常眼睛和青光眼儿童的虚拟现实现场测试:基于游戏的与Humphrey视场等效算法的比较
IF 1.3 4区 医学 Q3 OPHTHALMOLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.jaapos.2025.104691
Bo Wang MD, PhD , Rizul Naithani DO, MPH , Samuel Alvarez MD , Nathan Cheung OD , Jeffrey Liu MD , Mays El-Dairi MD , Sharon F. Freedman MD

Background

Virtual reality–based field (VRF) perimetry presents an alternative to standard automated perimetry, offering both game-based and Humphrey-equivalent algorithms. Comparative performance of these two algorithms is not well-documented. We evaluated the performance of children with healthy eyes and those with known or suspected glaucoma using both VRF algorithms.

Methods

Pediatric patients (children with healthy eyes and with known or suspected glaucoma) were prospectively enrolled to take VisuALL VRF (Olleyes) using a game-based test and a Humphrey-equivalent test; a subset of 49 eyes were also tested with table-top Humphrey visual field (HVF) perimetry. The two algorithms were evaluated based on test duration, foveal sensitivity, mean deviation (MD), pattern standard deviation (PSD), and patient preference, assessed by means of a questionnaire.

Results

A total of 71 eyes of 36 participants were included: 42 healthy control eyes, 4 glaucoma suspects, and 25 with known childhood glaucoma. Mean patient age was 10.9 ± 2.6 years (range, 6-17). For game-based versus Humphrey-equivalent algorithms, average MD (−2.78 ± 6.5 vs −3.41 ± 6.4 dB) and foveal sensitivity (30.3 ± 9.0 vs 31.3 ± 6.6 dB) were not statistically significantly different (P = 0.39 vs 0.79, resp.). Comparison using linear mixed-effects modeling showed a positive correlation between visual field parameters from the two VRF test types for both MD (P < 0.001) and PSD (P < 0.001). Test duration was longest for game-based VRF (5.7 min ± 1.8 min) compared with Humphrey-equivalent VRF perimetry (2.6 min ± 0.4 min) and HVF (4.2 ± 1.1 min), but most participants preferred it.

Conclusions

Game-based and Humphrey-equivalent VRFs showed good correlation with respect to one another for visual field parameters for both healthy eyes and those with known or suspected glaucoma. Most children preferred the game-based VRF despite its longer duration.
背景:基于虚拟现实的视野测量(VRF)提供了标准自动视野测量的替代方案,提供基于游戏和汉弗莱等效算法。这两种算法的性能比较没有很好的文献记录。我们使用两种VRF算法评估了健康眼睛儿童和已知或疑似青光眼儿童的表现。方法:前瞻性招募儿童患者(眼睛正常和已知或疑似青光眼的儿童),使用基于游戏的测试和汉弗莱等效测试服用VisuALL VRF (Olleyes);49只眼睛的子集也进行了桌面汉弗莱视野(HVF)验光。两种算法根据测试时间、中央凹敏感性、平均偏差(MD)、模式标准差(PSD)和患者偏好进行评估,并通过问卷进行评估。结果:36名受试者共71只眼,其中健康对照眼42只,疑似青光眼4只,已知儿童期青光眼25只。患者平均年龄为10.9±2.6岁(范围6-17岁)。对于基于游戏的算法和等效汉弗莱算法,平均MD(-2.78±6.5 vs -3.41±6.4 dB)和中央凹灵敏度(30.3±9.0 vs 31.3±6.6 dB)无统计学差异(P = 0.39 vs 0.79)。使用线性混合效应模型进行比较显示,两种VRF测试类型的视野参数在MD (P < 0.001)和PSD (P < 0.001)之间呈正相关。基于游戏的VRF测试持续时间(5.7 min±1.8 min)比等效的VRF测量(2.6 min±0.4 min)和HVF(4.2±1.1 min)最长,但大多数参与者更喜欢基于游戏的VRF。结论:在健康眼睛和已知或疑似青光眼患者的视野参数方面,基于游戏的vrf和汉弗莱等效vrf均表现出良好的相关性。大多数孩子更喜欢基于游戏的虚拟现实游戏,尽管它的持续时间更长。
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引用次数: 0
New in 2026: revamping submission categories and piloting a program for fledgling reviewers 2026年的新举措:修改提交类别,并为初出乍到的审稿人试行一个项目。
IF 1.3 4区 医学 Q3 OPHTHALMOLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.jaapos.2025.104702
Kristina Tarczy-Hornoch MD, DPhil
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引用次数: 0
Amblyopia prevalence in patients with alternating esotropia 交替性内斜视患者弱视患病率。
IF 1.3 4区 医学 Q3 OPHTHALMOLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.jaapos.2025.104700
Masoud Khorrami-Nejad PhD , Mohamad Reza Akbari MD , Babak Masoomian MD , Yasir Adil Shakor PhD , Foroozan Narooie-Noori PhD

Purpose

To determine the frequency of amblyopia in preschoolers and school-age children with alternating esotropia.

Methods

This retrospective, cross-sectional, single-center study analyzed the preoperative medical records of patients 3-10 years of age with confirmed alternating esotropia evaluated between 2012 and January 2024. Patients with motor or cognitive disabilities, ocular pathologies, or craniofacial anomalies were excluded, as were those with prior ocular surgeries or vertical deviations. Comprehensive ophthalmic examinations assessed refractive error, visual acuity, angle of deviation, and density of amblyopia.

Results

A total of 767 subjects (mean age, 6.9 ± 1.8 years; 41.4% female) with alternating esotropia were included. Of these, 151 (19.7%) were diagnosed with varying degrees of amblyopia: mild in 87 patients (57.6%), moderate in 60 (39.8%), and severe in 4 (2.7%). Thirty-seven of the amblyopic patients (24.5%) showed evidence of anisometropia; specifically, 32 (21.2%) had anisohyperopia, 4 (2.7%) had anisomyopia, and 1 (0.7%) had anisoastigmatism. Of the 616 nonamblyopic participants, 36 individuals (5.8%) had anisometropia.

Conclusions

The alternating nature of esotropia does not necessarily ensure the absence of amblyopia in children who are candidates for strabismus surgery. The high prevalence of amblyopia highlights the importance of thorough assessment and careful attention to the detection of amblyopia in this patient population.
目的:了解学龄前和学龄儿童交替性内斜视弱视的发生率。方法:本回顾性、横断面、单中心研究分析了2012年至2024年1月3-10岁确诊的交替性内斜视患者的术前医疗记录。排除有运动或认知障碍、眼部病变或颅面异常的患者,以及既往有眼部手术或垂直偏差的患者。综合眼科检查评估屈光不正、视力、斜角和弱视密度。结果:共纳入767例交替性内斜视患者(平均年龄6.9±1.8岁,女性41.4%)。其中151例(19.7%)被诊断为不同程度的弱视:轻度87例(57.6%),中度60例(39.8%),重度4例(2.7%)。弱视患者中有37例(24.5%)存在屈光参差;其中,各向异性远视32例(21.2%),参差4例(2.7%),各向异性散光1例(0.7%)。在616名非弱视参与者中,36人(5.8%)患有屈光参差。结论:内斜视的交替性并不能保证斜视手术患者没有弱视。弱视的高患病率突出了彻底评估和仔细关注弱视检测在这一患者群体中的重要性。
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引用次数: 0
Effectiveness of the KidsVisionCheck mobile application in screening for amblyopia risk factors and visually significant refractive error KidsVisionCheck移动应用程序筛查弱视危险因素和显著屈光不正的有效性
IF 1.3 4区 医学 Q3 OPHTHALMOLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.jaapos.2025.104681
Maya Ganeshan BA, MS , Andrew Chung MD , Evan Silverstein MD
KidsVisionCheck (KVC), a free photoscreening mobile application for iOS and Android released in 2022, aims to detect amblyopia risk factors (ARFs) in children. We evaluated its performance in a convenience sample of 120 pediatric ophthalmology clinic patients 12 months to 12 years of age. Patients were screened without optical correction using the application on an iPhone 14 Pro Max running iOS. Screening was followed by a dilated fundus examination with cycloplegic refraction. The 2021 AAPOS Vision Screening guidelines were used to assess for ARFs and visually significant refractive errors. The sensitivity of the application was 69.7%; the specificity, 58.7%. The positive predictive value in this patient population enriched for ophthalmic pathology was 52.4%, and the negative predictive value was 75.7%. KidsVisionCheck performed worse on these metrics than FDA-approved commercial instrument-based vision screeners.
KidsVisionCheck (KVC)是一款于2022年发布的iOS和Android免费的光筛查移动应用程序,旨在检测儿童弱视风险因素(arf)。我们在120名12个月至12岁的儿童眼科门诊患者的方便样本中评估了其性能。患者在没有光学校正的情况下使用运行iOS系统的iPhone 14 Pro Max上的应用程序进行筛查。筛检后进行扩张性眼底检查伴睫状体麻痹性屈光。2021年AAPOS视力筛查指南用于评估arf和视觉显著屈光不正。应用的灵敏度为69.7%;特异性为58.7%。在眼科病理丰富的人群中,阳性预测值为52.4%,阴性预测值为75.7%。KidsVisionCheck在这些指标上的表现比fda批准的商用仪器视力筛检器更差。
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引用次数: 0
Post-strabismus surgery endophthalmitis without evident scleral perforation due to Haemophilus influenzae in a pediatric patient with neurofibromatosis type 1 1型神经纤维瘤病患儿因流感嗜血杆菌引起的斜视手术后眼内炎无明显巩膜穿孔
IF 1.3 4区 医学 Q3 OPHTHALMOLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.jaapos.2025.104678
Nancy Arias-González MD , Lauren Kiryakoza MD , Lesly Sahagun-Anguiano MD , Davina A. Malek MD , Hong-Uyen Hua MD , Zenia Aguilera MD , Catherin I. Negron MBA , Audina M. Berrocal MD
Post–strabismus surgery endophthalmitis (PSSE) is a rare but significant complication, which is most commonly associated with medial rectus recession. We report a case of PSSE in a child who had completed chemotherapy 1 year prior to surgery. Despite vaccination, Haemophilus influenzae was cultured from the vitreous. Although infrequent, scleral perforation during surgery can occur without immediate detection. PSSE is typically caused by Staphylococcus aureus, Streptococcus pneumoniae, and H. influenzae, common pathogens found in the respiratory tract of children.
斜视手术后眼内炎(PSSE)是一种罕见但重要的并发症,最常与内侧直肌衰退有关。我们报告一个在手术前1年完成化疗的儿童PSSE病例。尽管接种疫苗,从玻璃体中培养流感嗜血杆菌。虽然不常见,但手术中发生的巩膜穿孔可能没有立即发现。PSSE通常由金黄色葡萄球菌、肺炎链球菌和流感嗜血杆菌引起,这些都是儿童呼吸道中常见的病原体。
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引用次数: 0
Sudden bilateral vision loss in a child with LYRM7-related leukoencephalopathy lyrm7相关脑白质病患儿突然双侧视力丧失1例
IF 1.3 4区 医学 Q3 OPHTHALMOLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.jaapos.2025.104658
Lubhavni Dewan MD, FICO , Vyshnavika Mupparapu MSc , Ramesh Kekunnaya MD, FRCS , Goura Chattannavar DNB
A 4-year-old boy presented with poor vision following an episode of febrile illness with abdominal distension, seizures, and respiratory distress with metabolic acidosis. He had bilateral partial optic atrophy. Neuroimaging revealed bilateral symmetric post-contrast enhancement of the optic nerves, diffuse white matter T2-hyperintensities, and a lactate peak on magnetic resonance spectroscopy. Serology for aquaporin-4 and myelin-oligodendrocyte antibodies were negative. Whole exome sequencing showed a homozygous pathogenic variant in the LYRM7 gene (c.2T>C) known to cause mitochondrial complex III deficiency. Following initiation of mitochondrial cocktail therapy, his visual behavior improved.
一名4岁男孩在出现发热性疾病、腹胀、癫痫发作和呼吸窘迫伴代谢性酸中毒后出现视力低下。他有双侧部分视神经萎缩。神经影像学显示双侧对称视神经增强,弥漫性白质t2高信号,磁共振波谱显示乳酸峰。水通道蛋白4和髓磷脂少突胶质细胞抗体血清学均为阴性。全外显子组测序显示LYRM7基因(C . 2t >C)的纯合子致病变异已知会导致线粒体复合物III缺陷。在开始线粒体鸡尾酒疗法后,他的视觉行为有所改善。
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引用次数: 0
A pilot, randomized clinical trial of dichoptic 3D movies versus dichoptic 2D movies for treatment of childhood intermittent exotropia 一项试验性的随机临床试验,比较3D分视片和2D分视片治疗儿童间歇性外斜视。
IF 1.3 4区 医学 Q3 OPHTHALMOLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.jaapos.2025.104698
Reed M. Jost MS , Kartik Kumar MD , Lori M. Dao MD , Becky Luu OD , Anastasia A. Alex MD , Brooke A. Koritala BS, BA , Krista R. Kelly PhD , Yi-Zhong Wang PhD , Eileen E. Birch PhD

Background

Surgical and nonsurgical treatments of childhood intermittent exotropia (IXT) often have unsatisfactory results due to poor sensory status. Dichoptic 3D movies may offer a novel treatment designed to reduce suppression, encourage fusion, and engage stereoacuity. Our aim was to assess whether 3D movies are superior to 2D sham movies treatment in treating children with IXT.

Methods

In this masked, pilot randomized clinical trial, 41 children aged 3-13 years with spontaneously manifested IXT (triple office distance control score ≥3.00; mean, 3.64 ± 0.72) were assigned to watch dichoptic 3D animated movies or 2D sham movies (3 movies/week, ∼5 hours) for 4 weeks. After completing their treatment assignment, children returned to the masked pediatric eye specialist to reassess IXT control and ocular alignment, with change in triple office distance control score as the primary outcome. Distance and near stereoacuity were also assessed.

Results

After 4 weeks of treatment, the 3D movie group showed a significant improvement in mean triple office distance control score (1.39 ± 1.00; P = 0.0002; n = 14); the 2D sham movie group did not (0.62 ± 1.36; P = 0.11; n = 14). The 3D movie group had significantly more improvement in distance control than the sham group (P = 0.049), but near control, ocular alignment, and stereoacuity did not change for either group.

Conclusions

In our study cohort, at-home dichoptic 3D animated movie treatment significantly improved IXT triple office distance control scores after 4 weeks, indicating that it might provide an alternative nonsurgical treatment for childhood intermittent exotropia.
背景:儿童间歇性外斜视(IXT)的手术和非手术治疗往往由于感觉状态不佳而效果不理想。双视3D电影可能提供一种新的治疗方法,旨在减少抑制,促进融合,并参与立体视觉。我们的目的是评估3D电影是否优于2D假电影治疗儿童IXT。方法:在这项盲法随机临床试验中,41名3-13岁自发表现为IXT的儿童(三办公室距离控制评分≥3.00;平均值3.64±0.72)被分配观看二分3D动画电影或2D假电影(3部电影/周,约5小时),为期4周。在完成他们的治疗任务后,儿童回到蒙面儿科眼科专家那里重新评估IXT控制和眼睛对齐,以三倍办公室距离控制评分的变化作为主要结果。还评估了距离和近立体视敏度。结果:治疗4周后,3D电影组三办公室距离控制平均评分显著提高(1.39±1.00,P = 0.0002);2D假影组无明显差异(0.62±1.36;P = 0.11)。3D电影组在距离控制方面的改善明显高于假手术组(P = 0.049),但两组的近距离控制、眼线和立体视明度均无变化。结论:在我们的研究队列中,家用3D动画电影治疗在4周后显著提高了IXT三办公室距离控制评分,表明它可能为儿童间歇性外斜视提供一种替代的非手术治疗方法。
{"title":"A pilot, randomized clinical trial of dichoptic 3D movies versus dichoptic 2D movies for treatment of childhood intermittent exotropia","authors":"Reed M. Jost MS ,&nbsp;Kartik Kumar MD ,&nbsp;Lori M. Dao MD ,&nbsp;Becky Luu OD ,&nbsp;Anastasia A. Alex MD ,&nbsp;Brooke A. Koritala BS, BA ,&nbsp;Krista R. Kelly PhD ,&nbsp;Yi-Zhong Wang PhD ,&nbsp;Eileen E. Birch PhD","doi":"10.1016/j.jaapos.2025.104698","DOIUrl":"10.1016/j.jaapos.2025.104698","url":null,"abstract":"<div><h3>Background</h3><div>Surgical and nonsurgical treatments of childhood intermittent exotropia (IXT) often have unsatisfactory results due to poor sensory status. Dichoptic 3D movies may offer a novel treatment designed to reduce suppression, encourage fusion, and engage stereoacuity. Our aim was to assess whether 3D movies are superior to 2D sham movies treatment in treating children with IXT.</div></div><div><h3>Methods</h3><div>In this masked, pilot randomized clinical trial, 41 children aged 3-13 years with spontaneously manifested IXT (triple office distance control score ≥3.00; mean, 3.64 ± 0.72) were assigned to watch dichoptic 3D animated movies or 2D sham movies (3 movies/week, ∼5 hours) for 4 weeks. After completing their treatment assignment, children returned to the masked pediatric eye specialist to reassess IXT control and ocular alignment, with change in triple office distance control score as the primary outcome. Distance and near stereoacuity were also assessed.</div></div><div><h3>Results</h3><div>After 4 weeks of treatment, the 3D movie group showed a significant improvement in mean triple office distance control score (1.39 ± 1.00; <em>P</em> = 0.0002; n = 14); the 2D sham movie group did not (0.62 ± 1.36; <em>P</em> = 0.11; n = 14). The 3D movie group had significantly more improvement in distance control than the sham group (<em>P</em> = 0.049), but near control, ocular alignment, and stereoacuity did not change for either group.</div></div><div><h3>Conclusions</h3><div>In our study cohort, at-home dichoptic 3D animated movie treatment significantly improved IXT triple office distance control scores after 4 weeks, indicating that it might provide an alternative nonsurgical treatment for childhood intermittent exotropia.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"29 6","pages":"Article 104698"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145589946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
One-stage versus two-stage surgical correction of blepharophimosis-ptosis-epicanthus inversus syndrome: a retrospective comparative study 一期与二期手术矫正睑下垂-下垂-内眦赘肉倒置综合征:回顾性比较研究。
IF 1.3 4区 医学 Q3 OPHTHALMOLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.jaapos.2025.104688
Islam Y. Swaify MD, Rania A. El Essawy MD, Rana A. Abdelfattah MD, Sameh H. Abdelbaky MD

Purpose

To compare the surgical outcomes of one-stage and two-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) in children <3 years of age.

Methods

This retrospective comparative study included children <3 years with BPES who underwent surgical correction at Cairo University. Medial canthoplasty was performed using the Y-V, C-U, or five-flap technique, while ptosis was corrected by frontalis suspension using polytetrafluoroethylene sling. Patients were divided into one-stage and two-stage groups. Surgical outcomes were assessed based on horizontal palpebral fissure length (HPFL), interpalpebral fissure height (IPFH), inner intercanthal distance (IICD) and IICD/HPFL ratio.

Results

Twenty-four patients were included: 11 in the one-stage group and 13 in the two-stage group. Both groups showed significant postoperative improvements in HPFL, IPFH, IICD and IICD/HPFL (P < 0.005), with no statistically significant difference between them. The two-stage group had a higher proportion of patients with good blepharophimosis outcome (46% vs 27%), whereas the one-stage group showed a higher proportion of good ptosis outcomes (64% vs 46%); however, these differences were not statistically significant. Complications were minimal and comparable between both groups.

Conclusions

Outcomes of one- and two-stage approaches were comparable in our cohort. One-stage correction may be preferable in patients with severe ptosis, although two-stage repair may better address severe blepharophimosis.
目的:比较儿童睑下垂-下垂-内眦反陷综合征(BPES)一期与二期矫正术的手术效果。方法:回顾性比较研究对象为儿童。结果:24例患者,一期组11例,二期组13例。两组术后HPFL、IPFH、IICD及IICD/HPFL均有显著改善(P < 0.005),差异无统计学意义。两阶段组有较高比例的患者有良好的睑下垂结果(46%对27%),而一阶段组有较高比例的良好睑下垂结果(64%对46%);然而,这些差异没有统计学意义。两组之间的并发症极少且具有可比性。结论:在我们的队列中,一期和两期方法的结果具有可比性。一期矫正可能更适合重度上睑下垂患者,尽管两期修复可能更好地解决重度睑下垂。
{"title":"One-stage versus two-stage surgical correction of blepharophimosis-ptosis-epicanthus inversus syndrome: a retrospective comparative study","authors":"Islam Y. Swaify MD,&nbsp;Rania A. El Essawy MD,&nbsp;Rana A. Abdelfattah MD,&nbsp;Sameh H. Abdelbaky MD","doi":"10.1016/j.jaapos.2025.104688","DOIUrl":"10.1016/j.jaapos.2025.104688","url":null,"abstract":"<div><h3>Purpose</h3><div>To compare the surgical outcomes of one-stage and two-stage correction of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) in children &lt;3 years of age.</div></div><div><h3>Methods</h3><div>This retrospective comparative study included children &lt;3 years with BPES who underwent surgical correction at Cairo University. Medial canthoplasty was performed using the Y-V, C-U, or five-flap technique, while ptosis was corrected by frontalis suspension using polytetrafluoroethylene sling. Patients were divided into one-stage and two-stage groups. Surgical outcomes were assessed based on horizontal palpebral fissure length (HPFL), interpalpebral fissure height (IPFH), inner intercanthal distance (IICD) and IICD/HPFL ratio.</div></div><div><h3>Results</h3><div>Twenty-four patients were included: 11 in the one-stage group and 13 in the two-stage group. Both groups showed significant postoperative improvements in HPFL, IPFH, IICD and IICD/HPFL (<em>P</em> &lt; 0.005), with no statistically significant difference between them. The two-stage group had a higher proportion of patients with good blepharophimosis outcome (46% vs 27%), whereas the one-stage group showed a higher proportion of good ptosis outcomes (64% vs 46%); however, these differences were not statistically significant. Complications were minimal and comparable between both groups.</div></div><div><h3>Conclusions</h3><div>Outcomes of one- and two-stage approaches were comparable in our cohort. One-stage correction may be preferable in patients with severe ptosis, although two-stage repair may better address severe blepharophimosis.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"29 6","pages":"Article 104688"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145566192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series Coffin-Siris综合征的视神经发育不全/发育不良:一个病例系列。
IF 1.3 4区 医学 Q3 OPHTHALMOLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.jaapos.2025.104682
Sidratul Rahman MD , Vincent Sun MD , Christine Saint-Martin MD , Daniela Toffoli MD
We report 4 patients with Coffin-Siris syndrome (CSS), all exhibiting midline brain abnormalities and all showing either optic nerve hypoplasia or dysplasia. Each of the patients has a unique pathogenic variant in CSS-related genes, including SMARCA4, SMARCB1, SMARCE1, and ARID2, all of which encode components of the BRG1/BRM-associated factor chromatin remodeling complex. The diversity of mutations highlights the molecular heterogeneity of CSS and its potential link to shared developmental pathways affecting the optic nerve.
我们报告4例Coffin-Siris综合征(CSS)患者,均表现为脑中线异常,且均表现为视神经发育不全或发育不良。每位患者在css相关基因中都有独特的致病变异,包括SMARCA4、SMARCB1、SMARCE1和ARID2,所有这些基因都编码BRG1/ brm相关因子染色质重塑复合体的组分。突变的多样性突出了CSS的分子异质性及其与影响视神经的共同发育途径的潜在联系。
{"title":"Optic nerve hypoplasia/dysplasia in Coffin-Siris syndrome: a case series","authors":"Sidratul Rahman MD ,&nbsp;Vincent Sun MD ,&nbsp;Christine Saint-Martin MD ,&nbsp;Daniela Toffoli MD","doi":"10.1016/j.jaapos.2025.104682","DOIUrl":"10.1016/j.jaapos.2025.104682","url":null,"abstract":"<div><div>We report 4 patients with Coffin-Siris syndrome (CSS), all exhibiting midline brain abnormalities and all showing either optic nerve hypoplasia or dysplasia. Each of the patients has a unique pathogenic variant in CSS-related genes, including <em>SMARCA4, SMARCB1, SMARCE1</em>, and <em>ARID2</em>, all of which encode components of the BRG1/BRM-associated factor chromatin remodeling complex. The diversity of mutations highlights the molecular heterogeneity of CSS and its potential link to shared developmental pathways affecting the optic nerve.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"29 6","pages":"Article 104682"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145410446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Predictors of nonsurgical consecutive exotropia following accommodative esotropia 适应性内斜视后非手术性连续外斜视的预测因素。
IF 1.3 4区 医学 Q3 OPHTHALMOLOGY Pub Date : 2025-12-01 DOI: 10.1016/j.jaapos.2025.104695
Hala ElHilali MD, Ahmed Awadein MD, Rokaya Radwan MD, Jylan Gouda MD, Heba M. Fouad MD

Purpose

To identify the incidence of and risk factors for development of spontaneous consecutive exotropia during management of fully accommodative esotropia with optical correction.

Methods

The medical records of patients who presented with an initial diagnosis of fully accommodative esotropia and converted to exotropia during their management were reviewed retrospectively. Patients with a minimum of 3 years’ follow-up were included. The following data were extracted from the record: age of onset, refractive error, glasses prescription, angles of deviation, visual acuity, and stereoacuity.

Results

A total of 178 children with fully accommodative esotropia were identified. Mean age of esotropia onset was 2.3 ±1.4 years; of initial glasses prescription, 2.9 ± 1.5 years. We calculated the mean spherical equivalent by averaging the values of both eyes for each patient. Mean spherical equivalent of both eyes was +4.3 ± 1.8 D. The mean follow-up was 6.9 ± 3.7 years. Consecutive exotropia developed in 31 children (17.4%) at a mean of 3.5 ± 3.6 years after prescription of spectacles. Children who developed consecutive exotropia had a higher initial spherical error (P = 0.02), higher initial cylindrical error (P = 0.01), and higher prevalence of neurological problems (P = 0.01) on multivariable analysis. Higher prevalence of amblyopia (P < 0.001) and vertical deviation (P < 0.001) were detected in the spontaneous exodeviation group on univariate analysis only. There was no statistically significant difference between spontaneous exotropia following accommodative esotropia and accommodative esotropia groups as a whole in terms of age of onset, the age of initiation of spectacles, angles of deviation, stereoacuity, or the time of initiation of reduction of hyperopic prescription.

Conclusions

High hyperopia (≥5 D), high astigmatic errors (≥1.5 D), and presence of neurological problems are risk factors for development of spontaneous exotropia among accommodative esotropia patients. Long-term follow-up is recommended for patients who have identifiable risk factors.
目的:探讨光学矫正治疗全适应性内斜视过程中自发性连续外斜视的发生率及危险因素。方法:回顾性分析初诊为完全调节性内斜视而在治疗过程中转为外斜视的患者病历。随访时间至少为3年的患者纳入研究。从记录中提取以下数据:发病年龄、屈光不正、眼镜处方、偏差角、视力和立体视力。结果:共发现178例完全调节性内斜视患儿。内斜视发病平均年龄为2.3±1.4岁;初次配镜者,2.9±1.5年。我们通过平均每位患者双眼的值来计算平均球面等效。双眼平均球当量为+4.3±1.8 d,平均随访时间为6.9±3.7年。31例(17.4%)儿童配戴眼镜后平均3.5±3.6年出现连续外斜视。多变量分析结果显示,连续外斜视患儿初始球面误差较高(P = 0.02),初始圆柱误差较高(P = 0.01),神经系统疾病患病率较高(P = 0.01)。在单变量分析中,自发性外偏组的弱视患病率(P < 0.001)和垂直偏差(P < 0.001)较高。调节性内斜视后自发性外斜视与整体调节性内斜视组在发病年龄、配戴眼镜年龄、偏度角、立体视敏度、远视处方开始复位时间等方面无统计学差异。结论:高度远视(≥5d)、高度散光误差(≥1.5 D)和存在神经系统问题是调节性内斜视患者发生自发性外斜视的危险因素。对于有明确危险因素的患者,建议进行长期随访。
{"title":"Predictors of nonsurgical consecutive exotropia following accommodative esotropia","authors":"Hala ElHilali MD,&nbsp;Ahmed Awadein MD,&nbsp;Rokaya Radwan MD,&nbsp;Jylan Gouda MD,&nbsp;Heba M. Fouad MD","doi":"10.1016/j.jaapos.2025.104695","DOIUrl":"10.1016/j.jaapos.2025.104695","url":null,"abstract":"<div><h3>Purpose</h3><div>To identify the incidence of and risk factors for development of spontaneous consecutive exotropia during management of fully accommodative esotropia with optical correction.</div></div><div><h3>Methods</h3><div>The medical records of patients who presented with an initial diagnosis of fully accommodative esotropia and converted to exotropia during their management were reviewed retrospectively. Patients with a minimum of 3 years’ follow-up were included. The following data were extracted from the record: age of onset, refractive error, glasses prescription, angles of deviation, visual acuity, and stereoacuity.</div></div><div><h3>Results</h3><div>A total of 178 children with fully accommodative esotropia were identified. Mean age of esotropia onset was 2.3 ±1.4 years; of initial glasses prescription, 2.9 ± 1.5 years. We calculated the mean spherical equivalent by averaging the values of both eyes for each patient. Mean spherical equivalent of both eyes was +4.3 ± 1.8 D. The mean follow-up was 6.9 ± 3.7 years. Consecutive exotropia developed in 31 children (17.4%) at a mean of 3.5 ± 3.6 years after prescription of spectacles. Children who developed consecutive exotropia had a higher initial spherical error (<em>P</em> = 0.02), higher initial cylindrical error (<em>P</em> = 0.01), and higher prevalence of neurological problems (<em>P</em> = 0.01) on multivariable analysis. Higher prevalence of amblyopia (<em>P</em> &lt; 0.001) and vertical deviation (<em>P</em> &lt; 0.001) were detected in the spontaneous exodeviation group on univariate analysis only. There was no statistically significant difference between spontaneous exotropia following accommodative esotropia and accommodative esotropia groups as a whole in terms of age of onset, the age of initiation of spectacles, angles of deviation, stereoacuity, or the time of initiation of reduction of hyperopic prescription.</div></div><div><h3>Conclusions</h3><div>High hyperopia (≥5 D), high astigmatic errors (≥1.5 D), and presence of neurological problems are risk factors for development of spontaneous exotropia among accommodative esotropia patients. Long-term follow-up is recommended for patients who have identifiable risk factors.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"29 6","pages":"Article 104695"},"PeriodicalIF":1.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145589944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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