Journal of Aapos最新文献

英文中文

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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引用次数: 0

Information for Readers 读者资讯

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

引用次数: 0

A case of pediatric ocular trauma caused by a green-colored pencil 绿铅笔致儿童眼外伤1例。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104640

Yosuke Asakawa MD, Yumi Suzuki MD, PhD, Akane Tomita MD, Tomoka Ishida MD, PhD, Akito Hirakata MD, PhD

We describe the case of a 6-year-old boy who presented with a right eye bruise after hitting the corner of a chair. Although slit-lamp microscopy revealed only conjunctival lacerations, B-scan ultrasound and computed tomography of the right eye orbital region showed high-intensity reflections and a high-density area, respectively. Suspecting an intraorbital foreign body, we reinterviewed the patient, who admitted to falling while holding a green-colored pencil. The patient was taken for surgery under general anesthesia, and a yellow, liquified muddy foreign body was located under the nasolateral Tenon’s capsule, adjacent to the medial rectus muscle, and removed. Eyelid swelling, conjunctival chemosis, and severe pain were noted postoperatively. Intravenous cefozopran hydrochloride (900 mg/day) and oral steroids (20 mg/day) were administered for inflammation. Colored pencils containing kaolin can cause severe inflammation, necessitating urgent surgical removal.

我们描述的情况下，一个6岁的男孩谁提出了一个右眼瘀伤后，撞上了椅子的角落。虽然裂隙灯显微镜仅显示结膜撕裂，但b超和计算机断层扫描右眼眶区分别显示高强度反射和高密度区。怀疑是眶内异物，我们重新询问了患者，他承认自己是在拿着绿色铅笔时摔倒的。患者全麻下行手术，在鼻外侧Tenon’s囊下，靠近内侧直肌处发现一黄色液体状泥状异物，并取出。术后眼睑肿胀、结膜化脓、剧烈疼痛。静脉注射盐酸头孢唑普兰（900毫克/天）和口服类固醇（20毫克/天）治疗炎症。含有高岭土的彩色铅笔会引起严重的炎症，需要紧急手术切除。

引用次数: 0

Predictors of missed pediatric ophthalmology appointments in a New Zealand cohort: the impact of gender, ethnicity, and socioeconomic deprivation 新西兰队列中错过儿童眼科预约的预测因素：性别、种族和社会经济剥夺的影响。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104646

Dineo Mpe MBChB, BMedSci(Hons) , Rachael L. Niederer PhD, FRANZCO , Jackie Low BOptom , Helen Victoria Danesh-Meyer PhD, MD

Background

Missed appointments, in addition to imposing a high financial burden on the health care sector, are well-documented to result in poorer health outcomes and may impact a child’s overall well-being. This study aimed to identify pediatric factors associated with appointment non-attendance in a large public hospital in New Zealand.

Methods

Clinic non-attendance from the Auckland District Health Board Ophthalmology Department from January 1, 2018, to December 31, 2019 was analyzed retrospectively. Demographic data collected included: age, sex, and ethnicity. Deprivation index was calculated. Appointments were classified as new patients and follow-ups, and acute or routine. Categorical and continuous variables were analyzed using logistic regression to assess the likelihood of non-attendance.

Results

In total, 22,818 pediatric (age <18) appointments were scheduled, of which 2,965 visits (13.0%) were missed. Mean age in the pediatric cohort was 6.8 ± 4.6 years and 12,106 (53.1%) were male. Ethnicity was White in 8,762 (41.0%), Māori in 3,147 (14.75%), Pacific peoples in 3,188 (14.9%), Asian in 5,290 (24.8%) and other in 982 (4.6%). Multivariable logistic regression analysis for all appointments showed that male sex (OR = 1.136; P = 0.002), Māori ethnicity (OR = 2.982; P < 0.001), Pacific peoples ethnicity (OR = 2.905; P < 0.001), other ethnicity (OR = 1.467; P < 0.001) and deprivation index (OR = 1.072; P < 0.001) were associated with missed appointments.

Conclusions

Male Māori and Pacific children living in high social deprivation disproportionately experience higher rates of missed appointments. Further research exploring barriers families face when seeking ophthalmic care for their children is needed to inform appropriate interventions.

背景：错过预约除了给卫生保健部门造成沉重的经济负担外，还会导致健康结果较差，并可能影响儿童的整体福祉。本研究旨在确定新西兰一家大型公立医院与预约不出勤相关的儿科因素。方法：回顾性分析奥克兰区卫生局眼科2018年1月1日至2019年12月31日的门诊非就诊情况。收集的人口统计数据包括：年龄、性别和种族。计算剥夺指数。预约分为新患者和随访，急性或常规。使用逻辑回归分析分类变量和连续变量以评估不出勤的可能性。结果：共有22,818名儿童（年龄）结论：生活在高度社会剥夺中的男性Māori和太平洋儿童不成比例地经历了更高的错过预约率。需要进一步研究家庭在为孩子寻求眼科护理时面临的障碍，以便为适当的干预提供信息。

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引用次数: 0

Myopia and astigmatism in adolescents with autism spectrum disorder 自闭症谱系障碍青少年的近视和散光。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104628

Itay Nitzan MD, MPH , Gal Khanchin MD , Margarita Safir MD , Denise Wajnsztajn MD

Of 894,375 Israeli adolescents undergoing standardized medical and ocular assessments in our nationwide cross-sectional study, 2,622 (0.3%) had autism spectrum disorder (ASD). Adolescents with ASD had significantly higher adjusted odds of both myopia and astigmatism compared with peers who did not have ASD. The relative odds of refractive error in ASD increased with both myopia severity and astigmatism cylinder power. Associations were consistent across all astigmatism axis orientations, most notably with-the-rule. These findings suggest that early and routine vision screening may be beneficial in identifying and addressing refractive errors among youth with ASD.

在我们的全国性横断面研究中，894,375名以色列青少年接受了标准化的医学和眼科评估，其中2,622名（0.3%）患有自闭症谱系障碍（ASD）。与没有自闭症的同龄人相比，患有自闭症的青少年患近视和散光的几率明显更高。近视严重程度与散光柱面度数呈剂量-反应关系。在所有散光轴方向上的关联是一致的，最明显的是与规则。这些发现表明，早期和常规的视力筛查可能有助于识别和解决青少年ASD患者的屈光不正。

引用次数: 0

Dacryocystorhinostomy outcomes for congenital nasolacrimal duct obstruction associated with craniofacial abnormalities 先天性鼻泪管阻塞伴颅面畸形的泪囊鼻腔造口术疗效。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104643

Grayson B. Ashby MD , Krishna Sinha BS , Ashika D. Kuchhangi BA , Scott K. Odorico MD , Julius T. Oatts MD , Lilly H. Wagner MD

Purpose

To compare the clinical characteristics and outcomes of pediatric patients with and without craniofacial abnormalities who underwent dacryocystorhinostomy (DCR) for recalcitrant congenital nasolacrimal duct obstruction (CNLDO).

Methods

This multicenter retrospective cohort study included all patients <17 years of age who underwent DCR for CNLDO over a 20-year period, from 2003 to 2023. Outcome measures included residual epiphora following surgery and need for additional surgery including DCR revision.

Results

A total of 40 patients (55 eyes) underwent DCR, of whom 28 (51%) had associated craniofacial abnormalities. Mean age at surgery was 6.3 ± 4.0 years, and 30 (55%) were female. There were no significant differences in age at surgery, sex, or surgical approach between isolated CNLDO and CNLDO associated with craniofacial abnormalities, but the craniofacial cohort was significantly more likely to require multispecialty surgical care (43% vs 7% [P < 0.05]) and have proximal lacrimal system pathology (OR = 7.92, P = 0.001). In the craniofacial cohort, 46% of eyes had residual symptoms following surgery compared with 26% in the isolated group (OR = 3.3, P = 0.06), and patients with craniofacial abnormalities who underwent multispecialty surgery were significantly more likely to have complete symptom resolution (OR = 8.33, P = 0.017). In the craniofacial group, there were 6 revisions; in the isolated group, 2.

Conclusions

In our patient cohort, CNLDO associated with craniofacial abnormalities had a higher likelihood of persistent epiphora following DCR than isolated CNLDO, but multidisciplinary surgical care was associated with improved outcomes. Surgeons should be prepared to address proximal lacrimal pathology at the time of DCR in children with craniofacial abnormalities.

目的：比较顽固性先天性鼻泪管梗阻（CNLDO）患儿行泪囊鼻腔造口术（DCR）的临床特点和预后。方法：本多中心回顾性队列研究纳入所有患者。结果：共40例患者（55只眼）行DCR，其中28例（51%）伴有颅面畸形。平均手术年龄6.3±4.0岁，女性30例（55%）。孤立性CNLDO与颅面异常相关的CNLDO在手术年龄、性别或手术入路方面无显著差异，但颅面组更有可能需要多专科手术治疗（43% vs 7% [P < 0.05]），并有近端泪系统病理（or = 7.92, P = 0.001）。在颅面组队列中，46%的眼睛术后有残留症状，而孤立组为26% (OR = 3.3, P = 0.06)，接受多专科手术的颅面异常患者更有可能完全缓解症状（OR = 8.33, P = 0.017）。颅面组共6例；在隔离组中，2。结论：在我们的患者队列中，与单独的CNLDO相比，伴有颅面异常的CNLDO在DCR后出现持续性外显的可能性更高，但多学科的外科治疗与改善的结果相关。外科医生应准备好处理近端泪道病理时，DCR的儿童颅面异常。

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引用次数: 0

Factors associated with resident pursuit of pediatric ophthalmology fellowship 住院医师追求儿童眼科奖学金的相关因素。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104606

Anika Kumar BA , Jonathan R. Morse MPH , Rupa K. Wong MD , Julius T. Oatts MD, MHS

Background

The current shortage of pediatric ophthalmologists leaves many children without access to timely care. Almost half of pediatric ophthalmology fellowship positions go unfilled annually. The purpose of this study was to investigate residency factors associated with pursuit of a fellowship in pediatric ophthalmology.

Methods

An online questionnaire designed to elicit information about residency program characteristics, exposure to pediatric ophthalmology, and resident pursuit of fellowships between 2018 and 2023 was sent to all United States ophthalmology residency program directors. Univariate logistic regression models were used to assess the factors associated with programs having at least one resident pursue a pediatric ophthalmology fellowship.

Results

The survey response rate was 54% (66/121 eligible programs). More than half (56%) reported residents’ initial exposure to pediatric ophthalmology in the PGY-2 year. Mean (with standard deviation) total days of resident exposure to pediatric ophthalmology was 66.32 ± 27.90. Forty programs (61%) graduated at least 1 resident who pursued a pediatric ophthalmology fellowship during the study period. In univariate logistic regression, larger residency program size, higher number of pediatric ophthalmologists on core faculty, and presence of a pediatric ophthalmology fellowship were all significantly associated with residents pursuing a pediatric ophthalmology fellowship (all P < 0.05).

Conclusions

Over half of programs responding to the survey had a resident pursue pediatric ophthalmology fellowship in the last 5 years. Relational factors, such as pediatric ophthalmology-specific mentorship, were the most important predictors of pediatric ophthalmology fellowship pursuit. Increasing access to faculty, connecting residents to fellows, and organizing mentorship programs could be effective strategies to foster greater interest in pediatric ophthalmology as a career.

背景：目前儿科眼科医生的短缺使许多儿童无法获得及时的护理。每年几乎有一半的儿科眼科研究员职位空缺。本研究的目的是调查住院医师的因素与追求在儿童眼科研究员。方法：向所有美国眼科住院医师项目主任发送一份在线问卷，旨在获取有关2018年至2023年住院医师项目特征、儿科眼科接触情况和住院医师追求奖学金的信息。单变量逻辑回归模型用于评估与至少有一名住院医师追求儿科眼科奖学金的项目相关的因素。结果：调查回复率为54%（66/121个合格项目）。超过一半（56%）的住院医生报告在PGY-2年内首次接触儿科眼科。平均（带标准差）儿童眼科住院总暴露天数为66.32±27.90天。在研究期间，40个项目（61%）至少有1名住院医师获得了儿科眼科学奖学金。在单变量logistic回归中，更大的住院医师项目规模、核心教员中更多的儿科眼科医生以及存在儿科眼科奖学金都与住院医师追求儿科眼科奖学金显著相关（均P < 0.05）。结论：在过去的5年里，超过一半的项目回应了调查，有住院医生追求儿科眼科奖学金。相关因素，如儿童眼科专业指导，是儿童眼科奖学金追求的最重要预测因素。增加与教师的接触，将住院医生与研究员联系起来，并组织指导计划，这些都是培养儿童眼科作为一种职业的更大兴趣的有效策略。

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引用次数: 0

Telemedicine for initial postoperative appointments following strabismus surgery 斜视手术后初次预约的远程医疗。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104645

Majida Gaffar MD , Elias Mullane MD

Purpose

To compare the results of telemedicine versus in-person initial postoperative evaluations of patients who underwent strabismus surgery.

Methods

We conducted a retrospective chart review of patients who underwent strabismus surgery at a single institution by a single surgeon between June 2020 and December 2022. Initial postoperative visits were consistently conducted via telemedicine. Collected data included the percentage of visits completed successfully, average time to complete visits, technical difficulties, no-show rates, and average numbers of complications. This data was compared with the same measures from in-person initial postoperative visits for the period January 2018 to March 2020. Statistical analysis was conducted to determine significant differences in the two data sets.

Results

A total of 276 charts were reviewed, 109 of which were from in-person postoperative visits and 167 were from telemedicine visits. Telemedicine was found to significantly reduce the length of the initial postoperative visit compared with in-person visits (P < 0.001), with no significant differences noted in visit attendance rates (P = 0.12). Additionally, there were no significant differences in complications or adverse outcomes of strabismus surgery between telemedicine and in-office visits (P = 0.50).

Conclusions

In our single-center study cohort, telemedicine proved a viable option for initial postoperative visits following strabismus surgery, with reduction in duration of visits and no significant difference in completion rates and adverse outcomes compared with in-person visits.

目的：比较远程医疗与面对面的斜视手术患者术后初步评估的结果。方法：我们对2020年6月至2022年12月在同一家机构由同一名外科医生进行斜视手术的患者进行了回顾性图表回顾。术后首次就诊均通过远程医疗进行。收集的数据包括成功完成访问的百分比、完成访问的平均时间、技术困难、缺勤率和并发症的平均数量。将这些数据与2018年1月至2020年3月期间首次亲自术后就诊的相同数据进行比较。对两组数据进行统计学分析，确定两组数据存在显著差异。结果：共回顾了276份病历，其中109份来自术后现场就诊，167份来自远程医疗就诊。与现场就诊相比，远程医疗显著减少了术后初次就诊的时间（P < 0.001），而就诊出勤率无显著差异（P = 0.12）。此外，远程医疗斜视手术的并发症或不良结局与办公室就诊无显著差异（P = 0.50）。结论：在我们的单中心研究队列中，远程医疗被证明是斜视手术后初次就诊的可行选择，与现场就诊相比，远程医疗可以减少就诊时间，在完成率和不良后果方面没有显著差异。

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引用次数: 0

Incidence and clinical characteristics of pediatric traumatic hyphema from 2000 to 2009 in a population-based cohort 2000 - 2009年儿童创伤性前房积血的发病率和临床特征

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104642

Grayson B. Ashby MD , Matthew R. Claxton MD , Brian G. Mohney MD

Purpose

To provide updated epidemiologic data on pediatric traumatic hyphema.

Methods

This multicenter retrospective, population-based cohort study included all patients <19 years of age diagnosed with a closed-globe traumatic hyphema from January 1, 2000, through December 31, 2009, in a single United States county.

Results

During the 10-year study period, 70 patients (52 males [74%]) sustained a traumatic hyphema, yielding an incidence of 19 per 100,000 patients. Mean age at diagnosis was 13 years (range, 4.8-18.6). The most common injury mechanisms were sports (43%) and projectiles (23%). Mean logMAR visual acuity at presentation was 0.218 (range, 0.0 to light perception), and 14 patients (20%) had ocular hypertension during the first month post-injury. Microhyphema was present in 27 patients (44%), and 2 (3%) had a grade III hyphema or worse. Mean final logMAR visual acuity was 0.03 (range, –0.1 to 0.54). No patient had persistently elevated or asymmetric intraocular pressure. Long-term sequelae occurred in 29 patients (41%), most commonly angle abnormalities, but 27 (39%) did not undergo gonioscopy during the follow-up period.

Conclusions

The population-based incidence of traumatic hyphema is similar to that reported five decades ago. Expected visual recovery is good, although long-term sequelae are relatively common. The risk of ocular hypertension or glaucoma following traumatic hyphema is low through young adulthood, but one-third of patients did not receive gonioscopy following injury.

目的：为小儿外伤性前房积血提供最新的流行病学资料。方法：这项多中心回顾性、基于人群的队列研究纳入了所有患者。结果：在10年的研究期间，70例患者（52例男性[74%]）出现外伤性前房积血，发病率为19 / 10万。平均诊断年龄为13岁（范围4.8-18.6岁）。最常见的损伤机制是运动（43%）和弹丸（23%）。患者就诊时的平均logMAR视力为0.218（范围从0.0到光感），14例患者（20%）在伤后第一个月内出现高眼压。27例（44%）患者存在小前房积血，2例（3%）患者有III级或更严重的前房积血。平均最终logMAR视力为0.03（范围为-0.1至0.54）。无患者眼压持续升高或不对称。29例（41%）患者出现长期后遗症，最常见的是角度异常，但27例（39%）患者在随访期间未行阴道镜检查。结论：创伤性前房积血的人群发生率与50年前的报道相似。预期视力恢复良好，尽管长期后遗症相对常见。创伤性前房积血后发生高眼压或青光眼的风险在成年早期较低，但三分之一的患者在受伤后未接受阴道镜检查。

{"title":"Incidence and clinical characteristics of pediatric traumatic hyphema from 2000 to 2009 in a population-based cohort","authors":"Grayson B. Ashby MD , Matthew R. Claxton MD , Brian G. Mohney MD","doi":"10.1016/j.jaapos.2025.104642","DOIUrl":"10.1016/j.jaapos.2025.104642","url":null,"abstract":"<div><h3>Purpose</h3><div>To provide updated epidemiologic data on pediatric traumatic hyphema.</div></div><div><h3>Methods</h3><div>This multicenter retrospective, population-based cohort study included all patients <19 years of age diagnosed with a closed-globe traumatic hyphema from January 1, 2000, through December 31, 2009, in a single United States county.</div></div><div><h3>Results</h3><div>During the 10-year study period, 70 patients (52 males [74%]) sustained a traumatic hyphema, yielding an incidence of 19 per 100,000 patients. Mean age at diagnosis was 13 years (range, 4.8-18.6). The most common injury mechanisms were sports (43%) and projectiles (23%). Mean logMAR visual acuity at presentation was 0.218 (range, 0.0 to light perception), and 14 patients (20%) had ocular hypertension during the first month post-injury. Microhyphema was present in 27 patients (44%), and 2 (3%) had a grade III hyphema or worse. Mean final logMAR visual acuity was 0.03 (range, –0.1 to 0.54). No patient had persistently elevated or asymmetric intraocular pressure. Long-term sequelae occurred in 29 patients (41%), most commonly angle abnormalities, but 27 (39%) did not undergo gonioscopy during the follow-up period.</div></div><div><h3>Conclusions</h3><div>The population-based incidence of traumatic hyphema is similar to that reported five decades ago. Expected visual recovery is good, although long-term sequelae are relatively common. The risk of ocular hypertension or glaucoma following traumatic hyphema is low through young adulthood, but one-third of patients did not receive gonioscopy following injury.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"29 5","pages":"Article 104642"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145103142","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

Pedigree analysis of an unusual low penetrance retinoblastoma mutation resulting in multiple silent carriers and a discordant effect on monozygotic twins 一个不寻常的低外显率视网膜母细胞瘤突变导致多个沉默携带者和对同卵双胞胎的不一致影响的家系分析。

IF 1.3 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos

Pub Date : 2025-10-01 DOI: 10.1016/j.jaapos.2025.104647

John J. McDermott IV MD , Ramitha R. Nyalakonda MD , Amy C. Schefler MD

There are few investigations into low-penetrance heritable retinoblastoma (RB) mutations and sparse reports of identical twins with RB. To our knowledge, this is the first report of monozygotic twins with molecularly proven discordant RB and the largest pedigree published describing a low-penetrance RB1 mutation with multiple successive generations of silent carriers.

关于低外显率遗传性视网膜母细胞瘤（RB）突变的研究很少，同卵双胞胎患有RB的报道也很少。据我们所知，这是首次报道分子证明RB1不一致的同卵双胞胎，也是描述低外显率RB1突变与连续多代沉默携带者的最大家谱。

引用次数: 0

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