Journal of Aapos最新文献

英文中文

Epidemiology of strabismus among adults in the United States: insights from the All of Us database 美国成人斜视的流行病学：来自全美数据库的见解。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104657

Alexander C. Lieu BS, Evan H. Walker MS, Shira L. Robbins MD, David B. Granet MD , Jolene C. Rudell MD, PhD

Purpose

To determine the prevalence of adult-diagnosed strabismus and its associations with sex, age, and race in a large, diverse population database in the United States.

Methods

Sex, age, and race data were collected from 413,457 individuals in the All of Us database. The χ² test with post hoc pairwise comparisons was used to determine significant differences in distributions of sex, age, and race data in 3,734 strabismus patients compared with the overall database.

Results

There is a higher proportion of males among patients with strabismus compared with the overall database (43.34% vs 38.34% [P < 0.001]). There is a significantly higher proportion of patients aged over 65 years among patients with strabismus compared with the overall database (45.77% vs 24.7% [P < 0.001]). There is also a significantly different racial distribution of individuals with strabismus compared with the overall database (P < 0.001). Pairwise comparisons showed a significantly lower proportion of Asian individuals among patients with strabismus or heterotropia, a lower proportion of Black individuals with most subtypes, and a higher proportion of White individuals among patients with any strabismus.

Conclusions

These results suggest that there is a lower proportion of females, Asian, and Black participants with diagnosed strabismus compared with the overall population in the All of Us database. These findings may indicate that strabismus affects patient populations differently, or that there is differential access to care and diagnosis of strabismus across sex, age, and race.

目的：在美国一个大型、多样化的人口数据库中确定成人诊断的斜视患病率及其与性别、年龄和种族的关系。方法：从All of Us数据库中收集了413457个人的性别、年龄和种族数据。采用事后两两比较的χ2检验来确定3734例斜视患者的性别、年龄和种族数据分布与整个数据库的差异。结果：斜视患者中男性比例高于整体数据库（43.34% vs 38.34% [P < 0.001]）。在斜视患者中，65岁以上患者的比例明显高于整体数据库（45.77% vs 24.7% [P < 0.001]）。与整个数据库相比，斜视个体的种族分布也有显著差异（P < 0.001）。两两比较显示，在斜视或异斜视患者中，亚洲人的比例明显较低，大多数亚型的黑人患者比例较低，而在任何斜视患者中，白人患者比例较高。结论：这些结果表明，与All of Us数据库中的总体人群相比，女性、亚洲人和黑人被诊断为斜视的比例较低。这些发现可能表明斜视对患者群体的影响不同，或者斜视的治疗和诊断在性别、年龄和种族上存在差异。

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引用次数: 0

Cavitary retinoblastoma with MYCN amplification 伴有MYCN扩增的腔体视网膜母细胞瘤。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104607

Kathryn E. Tobert BA , Nicole Liberio MD , Kerri Becktell MD , Aparna Ramasubramanian MD

MYCN amplification within the tumor has emerged as an important factor in the oncogenesis of a subset of retinoblastomas, most of which are caused by pathogenic variants in the RB1 gene. We present the case of a 3-month-old girl with unilateral cavitary retinoblastoma that initially responded well to intra-arterial chemotherapy but later recurred. After enucleation, the tumor was found to exhibit MYCN amplification, but there were no RB1 variants. Retinoblastoma tumors with MYCN amplification are known to carry a poor prognosis and often require enucleation. On the contrary, cavitary retinoblastomas tend to be well differentiated, with favorable prognosis. To our knowledge, this is the first report of a MYCN-amplified tumor presenting as cavitary retinoblastoma.

肿瘤内MYCN扩增已成为视网膜母细胞瘤亚群癌变的重要因素，其中大多数是由RB1基因的致病性变异引起的。我们提出一个病例3个月大的女孩单侧腔视网膜母细胞瘤，最初对动脉化疗反应良好，但后来复发。去核后，发现肿瘤表现出MYCN扩增，但没有RB1变异。已知MYCN扩增的视网膜母细胞瘤预后较差，通常需要去核。相反，空腔性视网膜母细胞瘤往往分化良好，预后良好。据我们所知，这是首例mycn扩增的肿瘤表现为空腔性视网膜母细胞瘤。

引用次数: 0

Restrictive strabismus caused by infantile myositis masquerading as Duane retraction syndrome 婴儿肌炎引起的限制性斜视伪装成Duane挛缩综合征。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104611

Weiyi Xia MD , Jing Yao MD , Xinyi Zhao MD, Chao Jiang MD, Ling Ling MBBS, Chen Zhao MD

We report a rare case of restrictive strabismus in a pediatric patient who was initially misdiagnosed with Duane retraction syndrome (DRS) because she had large-angle exotropia, restricted adduction, globe retraction, narrowing of the palpebral fissure, and downshoot on attempted adduction. Notably, the parents first observed strabismus at 12 months of age, with photographs taken before 6 months of age revealing no ocular misalignment. Despite the absence of typical inflammatory signs, the temporal discrepancy, characterized by delayed onset inconsistent with congenital DRS, prompted further investigation. Subsequent magnetic resonance imaging demonstrated no typical appearances of DRS or other intracranial abnormalities but revealed fusiform enlargement of the lateral rectus muscle, raising suspicion of orbital myositis. Surgical exploration confirmed fibrosis of the lateral rectus muscle. Strabismus surgery involving recession of the fibrotic lateral rectus muscle resulted in improved alignment and motility.

我们报告一例罕见的限制性斜视的儿童患者，她最初被误诊为Duane内收综合征（DRS），因为她有大角度外斜视，内收受限，眼球内收，睑裂狭窄，内收失败。值得注意的是，父母第一次观察到斜视是在12个月大的时候，6个月前拍摄的照片显示没有眼睛错位。尽管没有典型的炎症体征，但时间差异的特征是延迟发作，与先天性DRS不一致，这促使进一步的研究。随后的磁共振成像显示没有典型的DRS或其他颅内异常，但显示外侧直肌梭状扩大，引起眶肌炎的怀疑。手术探查证实外直肌纤维化。斜视手术涉及到纤维性外侧直肌的衰退，结果是矫正和运动得到改善。

引用次数: 0

Acquired macular atrophy leads to the correct diagnosis of CLDN19-related disease in a child with nephropathy 获得性黄斑萎缩导致肾病患儿cldn19相关疾病的正确诊断。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104610

Arif O. Khan MD

Biallellic CLDN19 pathogenic variants cause syndromic macular atrophy or pseudocoloboma (familial hypomagnesemia with hypercalciuria and nephrocalcinosis). Macular atrophic lesions in children with CLDN19-related disease have been reported as stable over follow-up, although it remains unclear whether they are congenital or acquired (developmental). This report highlights the case of an infant with nephropathy and high myopia for whom acquired macular atrophy redirected genetic studies and led to the diagnosis of CLDN19-related disease.

双等位基因CLDN19致病变异引起综合征性黄斑萎缩或假结肠瘤（家族性低镁血症伴高钙尿症和肾钙质沉着症）。据报道，患有cldn19相关疾病的儿童黄斑萎缩病变在随访中稳定，尽管尚不清楚它们是先天性的还是获得性的（发育性的）。本报告重点报道了一例患有肾病和高度近视的婴儿，其获得性黄斑萎缩重定向了基因研究，并导致了cldn19相关疾病的诊断。

引用次数: 0

Pediatric azathioprine-induced pterygium formation in a patient with Crohn’s disease: a possible sign of ultraviolet photosensitization 克罗恩病患者小儿硫唑嘌呤诱导的翼状胬肉形成：紫外线光敏化的可能迹象。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104609

Ahmed Magid Wanas MSc, FRCOphth, Alan Connor FRCOphth

We present the case of a 15-year-old boy on long-term azathioprine treatment for Crohn’s disease who developed bilateral pterygia. He had no family history of pterygium formation, and he lived in a northern English town with a low ultraviolet (UV) index. This case highlights a possible association between azathioprine intake and development of pterygium, possibly attributable to UVA photosensitization.

我们提出的情况下，一个15岁的男孩长期硫唑嘌呤治疗克罗恩病谁发展双侧翼状胬肉。他没有翼状胬肉形成的家族史，他住在英国北部一个紫外线指数较低的城镇。这个病例强调了氮唑嘌呤的摄入和翼状胬肉的发展之间可能的联系，可能归因于UVA光敏。翼状胬肉主要是由于长期暴露于紫外线a （UVA）而发展起来的。已知服用硫唑嘌呤的患者发生非黑色素瘤皮肤癌（NMSC）的几率更高，因为这种药物对皮肤的UVA光敏作用。这增加了一种可能性，即服用硫唑嘌呤的个体的眼部组织的UVA光敏化可能会增加翼状胬肉的可能性，即使在儿科年龄组，翼状胬肉通常被认为很罕见。

引用次数: 0

Predictors of access to pediatric eye care appointments 获得儿科眼科护理预约的预测因素。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104639

Thomas H. Diehl BS , Davina A. Malek MD , Kara M. Cavuoto MD

Purpose

To investigate predictors of access to pediatric eye care appointments in the United States.

Methods

A comprehensive list of pediatric ophthalmologists and optometrists was compiled, and offices were contacted to respond to a structured telephone survey regarding private insurance and Medicaid acceptance and appointment availability. Simple logistic regressions were used to assess risk factors affecting proportions of successful appointments and appointment wait times. Multivariable analysis adjusted for potential confounding factors, including physician type, practice type, geographic location, insurance type, and race majority in county. The main outcome measures were percentages of successful appointments, predictors associated with higher chances for a successful appointment, and average appointment wait times.

Results

A total of 925 offices of 1,528 providers were contacted (62% ophthalmologists). The percentage of successful appointments was significantly lower with ophthalmologists (39.7%) than optometrists (65.6% [P < 0.001]). Average wait times for successful appointments were significantly shorter at the offices of optometrists (25.4 ± 36.5 days) versus ophthalmologists (52.8 ± 58.3 days [P < 0.001]). Medicaid patients had a statistically significantly lower appointment success rate (37.2%) compared with the privately insured (62.0% [P < 0.001]), and their average wait times were 46.5 ± 56.19 days, compared with 40.0 ± 50.7 days for privately insured patients (P < 0.093). In majority White counties, appointments booked 50.2% (95% CI, 48.4-52.0) compared with 41.3% (95% CI, 34.6-48.0) in predominantly minority counties (P = 0.014).

Conclusions

Disparities in the proportions of booked appointments and wait times for pediatric eye care visits based on insurance type, provider type, and demographics underscore the need for increased access to pediatric eye care.

目的：研究美国儿童眼科就诊的预测因素。方法：编制了一份全面的儿童眼科医生和验光师名单，并联系了他们的办公室，对私人保险和医疗补助的接受情况和预约情况进行了结构化的电话调查。使用简单的逻辑回归来评估影响成功预约比例和预约等待时间的风险因素。多变量分析调整了潜在的混杂因素，包括医生类型、执业类型、地理位置、保险类型和县种族多数。主要的结果测量是成功预约的百分比，与成功预约的高机会相关的预测因素，以及平均预约等待时间。结果：共联系925个诊所，1528名眼科医生（62%）。眼科医生的预约成功率（39.7%）明显低于验光师（65.6%）[P < 0.001]。验光师预约成功的平均等待时间（25.4±36.5天）明显短于眼科医生（52.8±58.3天[P < 0.001]）。医疗补助患者的预约成功率（37.2%）低于私人参保患者（62.0% [P < 0.001]），平均等待时间（46.5±56.19天）低于私人参保患者（40.0±50.7天）（P < 0.093）。在大多数白人县，预约率为50.2% (95% CI, 48.4-52.0)，而在主要少数民族县，预约率为41.3% (95% CI, 34.6-48.0) （P = 0.014）。结论：根据保险类型、医疗服务提供者类型和人口统计数据，儿童眼科就诊预约比例和等待时间的差异强调了增加儿童眼科就诊的必要性。

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引用次数: 0

Vision and developmental delay in toddlers 幼儿的视力和发育迟缓。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104650

Juan Sanchez MS , Kimberly Gerhart MD , Andrew W. Arthur MD, PhD , Erin Harvey PhD , John D. Twelker OD, PhD , Chiu-Hsieh Hsu PhD , Leslie K. Dennis PhD , Joseph M. Miller MD, MPH

Research investigating an association between vision impairment and toddlers’ ability to reach developmental milestones is sparse. Medical records of children 11-37 months of age who had automated vision screening were retrospectively reviewed to evaluate whether such an association was present. A lower likelihood of development delay was associated with female sex and Hispanic patients. However, developmental delay diagnosis was not associated with failing automated vision screening.

关于视力障碍与幼儿达到发育里程碑的能力之间关系的研究很少。对11-37月龄儿童进行自动视力筛查的医疗记录进行回顾性分析，以评估是否存在这种关联。女性和西班牙裔患者发育迟缓的可能性较低。然而，发育迟缓诊断与自动视力筛查失败无关。

引用次数: 0

Uveal involvement as the presenting sign of recurrence of systemic B-cell lymphoma: a case report and description of biopsy technique 葡萄膜受累为全身性b细胞淋巴瘤复发的表现：1例报告及活检技术描述。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104651

Benjamin K.J. Host MBBS (Hons), FRANZCO , Aban Bahabri MBBS , Sarah Alexander MD , Kamiar Mireskandari FRCOphth, PhD

The uvea is a rare site for primary or recurrent lymphoma, but it is a potentially sight- and life-threatening pediatric presentation. The differential diagnosis is broad, and tissue biopsy is necessary for confirmation and appropriate management. We present the first published case of relapsed atypical B-cell lymphoma with KMT2A gene rearrangement involving the iris. Despite a high index of clinical suspicion of recurrent systemic lymphoma, biopsy of aqueous was nondiagnostic. The child required further aqueous sampling and iris biopsy, which confirmed the diagnosis and allowed for appropriate treatment. Pearls for acquiring a representative aqueous biopsy, as well as a surgical video describing aqueous and iris biopsy technique are provided.

葡萄膜是原发性或复发性淋巴瘤的罕见部位，但它是一种潜在的危及视力和生命的儿科表现。鉴别诊断是广泛的，组织活检是必要的确认和适当的管理。我们提出了第一例复发的非典型b细胞淋巴瘤与KMT2A基因重排累及虹膜。尽管临床上对复发性全身性淋巴瘤有很高的怀疑，但水组织活检无法诊断。患儿需要进一步的水样取样和虹膜活检，这证实了诊断并允许适当的治疗。提供了用于获得代表性水活检的珍珠，以及描述水活检和虹膜活检技术的手术视频。

引用次数: 0

The Pocket Strabismus Surgical Skills Trainer: design and validation 袖珍斜视手术技巧训练器：设计与验证。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104637

Grace Baldwin MD , Eric Dennis MS , Gena Heidary MD, PhD , David G. Hunter MD, PhD , Eric D. Gaier MD, PhD

Background

Synthetic models for strabismus surgery have the potential to enhance training without the complexities of biologic material. Models described to date are relatively large and costly, potentially limiting access. We set out to design and validate a handheld surgical strabismus trainer.

Methods

Utilizing a silicone mold and 3D printer, we developed a 6.25 × 4.5 × 2.5 cm model, the “Pocket Strabismus Surgical Skills Trainer,” optimized for practicing essential steps of strabismus surgery, including securing the muscle, scleral passes, and conjunctival closure. The materials required to print each model cost less than US $30. We surveyed participants across three ophthalmology training programs who participated in two workshops. Perceptions were assessed with an anonymous Likert scale questionnaire.

Results

Thirty trainees and 6 faculty completed the survey. All participants reported that the pocket simulator had easy open/close, setup, and storage (P = 0.003). The appearance of the eyeball, sclera, and rectus muscles was felt to be sufficiently reproduced among the majority of participants (97%, 86%, and 81%, resp. [P = 0.001]). Most participants agreed that the sclera/extraocular muscles felt realistic (77%/81% [P = 0.005]) and modeled real practice (92%/100% [P = 0.002]).

Conclusions

Trainee and faculty perceptions of the Pocket Strabismus Surgical Skills Trainer reflected ease of use, realistic critical ocular tissue structures, and a design that facilitates practice of key surgical steps. These results support our goal to provide a low-cost model that will broaden hands-on strabismus surgical training.

背景：斜视手术的合成模型有可能在没有生物材料复杂性的情况下加强训练。迄今为止所描述的模型相对较大且昂贵，潜在地限制了访问。我们着手设计和验证一个手持式手术斜视训练器。方法：利用硅胶模具和3D打印机，我们开发了一个6.25 × 4.5 × 2.5 cm的“口袋斜视手术技能训练器”模型，优化了斜视手术的基本步骤，包括固定肌肉、巩膜通道和结膜关闭。打印每个模型所需的材料成本低于30美元。我们调查了三个眼科培训项目的参与者，他们参加了两个研讨会。知觉评估与匿名李克特量表问卷。结果：30名学员和6名教师完成了调查。所有参与者报告口袋模拟器易于打开/关闭，设置和存储（P = 0.003）。大多数参与者（分别为97%、86%和81%）认为眼球、巩膜和直肌的外观得到了充分的再现。[p = 0.001])。大多数参与者认为巩膜/眼外肌感觉真实（77%/81% [P = 0.005]）和模拟真实练习（92%/100% [P = 0.002]）。结论：受训者和教师对口袋斜视手术技能培训器的看法反映了易于使用，真实的关键眼部组织结构，以及便于关键手术步骤练习的设计。这些结果支持我们的目标，提供一个低成本的模式，将扩大动手斜视手术培训。

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IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/S1091-8531(25)00563-4

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