Journal of Aapos最新文献

筛选
英文 中文
Validation of the eye screening tool GoCheck Kids for the detection of amblyopia risk factors in toddlers in Flanders 验证 GoCheck Kids 眼科筛查工具,以发现佛兰德幼儿弱视的风险因素。
IF 1.2 4区 医学
Journal of Aapos Pub Date : 2024-10-01 DOI: 10.1016/j.jaapos.2024.104008
Hanne Otto MSc , Maaike Deschoemaeker MD , Bart Van Overmeire PhD, MD , Ingele Casteels PhD, MD , Catherine Cassiman PhD, MD
{"title":"Validation of the eye screening tool GoCheck Kids for the detection of amblyopia risk factors in toddlers in Flanders","authors":"Hanne Otto MSc ,&nbsp;Maaike Deschoemaeker MD ,&nbsp;Bart Van Overmeire PhD, MD ,&nbsp;Ingele Casteels PhD, MD ,&nbsp;Catherine Cassiman PhD, MD","doi":"10.1016/j.jaapos.2024.104008","DOIUrl":"10.1016/j.jaapos.2024.104008","url":null,"abstract":"<div><h3>Purpose</h3><div>To assess the validity of the GoCheck Kids photoscreening application (Gobiquity Mobile Health, Scottdale, AZ) on iPhone, which was used (2018-2022) as standard of care by Child and Family (Kind en Gezin) to detect amblyopia risk factors in children 12-30 months of age.</div></div><div><h3>Methods</h3><div>Between August 2021 and May 2022, 453 children 11-16 months of age underwent a confirmatory ophthalmic examination within 2 months of GoCheck Kids photoscreening at Child and Family, Flanders, Belgium. Additionally, manual review was performed by specialists of GoCheck Kids. Diagnostic metrics were assessed using the 2013 criteria of the American Association for Pediatric Ophthalmology and Strabismus as reference.</div></div><div><h3>Results</h3><div>Specificity was similar for automatic screening with or without manual review: 90.0% (95% CI, 87.6%-92.3%) and 90.3% (95% CI, 88.0%-92.7%), respectively. Sensitivity was estimated at 52.0% (95% CI, 35.6%-68.4%) for automatic grading and 56.0% (95% CI, 39.7%-72.3%) after manual review. Positive predictive values for automatic screening and manual review were, respectively, 23.2% (95% CI, 13.9-32.5) and 25.5% (95% CI, 15.8-35.1). Negative predictive values for automatic screening and manual review were, respectively, 97.0% (95% CI, 95.6-98.4) and 97.2 (95% CI, 95.8-98.6).</div></div><div><h3>Conclusions</h3><div>In our study cohort of children around 12 months of age, the GoCheck Kids application had a specificity of 90% for the targeted amblyopia risk factors, with sensitivity just over 50%.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299951","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
Visual and surgical outcomes of childhood glaucoma following cataract surgery 白内障手术后儿童青光眼的视觉和手术效果。
IF 1.2 4区 医学
Journal of Aapos Pub Date : 2024-10-01 DOI: 10.1016/j.jaapos.2024.103993
Adam Jacobson MD , Brenda L. Bohnsack MD, PhD
{"title":"Visual and surgical outcomes of childhood glaucoma following cataract surgery","authors":"Adam Jacobson MD ,&nbsp;Brenda L. Bohnsack MD, PhD","doi":"10.1016/j.jaapos.2024.103993","DOIUrl":"10.1016/j.jaapos.2024.103993","url":null,"abstract":"<div><h3>Purpose</h3><div>To evaluate frequency of surgery and post-treatment outcomes in glaucoma following cataract surgery (GFCS).</div></div><div><h3>Methods</h3><div>The medical records of patients with GFCS were reviewed retrospectively. Lensectomy and glaucoma surgery details and final examination findings were collected. Inclusion criteria included history of lensectomy at &lt;1 year of age, diagnosis of glaucoma, and at least 1 year of follow-up.</div></div><div><h3>Results</h3><div>Of 169 eyes of 127 GFCS patients (66 male, 58 bilateral cases), 88 eyes (52%) of 73 (57%) patients underwent glaucoma surgery (median, 3.5 years of age at first glaucoma surgery; median of two glaucoma surgeries). At final follow-up (mean, 13.6 ± 7.0 years), eyes requiring glaucoma surgery had worse visual acuity (<em>P</em> = 0.01) and greater cup:disk ratio (<em>P</em> &lt; 0.01). GFCS patients with history of bilateral congenital cataracts had better visual acuity in affected eyes than those with history of unilateral congenital cataract (<em>P</em> &lt; 0.01). Angle surgery (n = 56), Baerveldt devices (n = 38), Ahmed valves (n = 19), and cycloablation (n = 21) showed 1-year survival rates between 64% and 75%. Baerveldt implants showed the highest 5- and 10-year survival rates, at 65% and 43%, respectively.</div></div><div><h3>Conclusions</h3><div>More than 50% of eyes with GFCS in our study cohort required at least one glaucoma surgery. Glaucoma surgery and history of unilateral cataract were associated with worse visual acuity outcomes.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The use of trypan blue to enhance intraoperative visualization during congenital lacrimal fistulectomy 在先天性泪道瘘管切除术中使用胰蓝增强术中可视性。
IF 1.2 4区 医学
Journal of Aapos Pub Date : 2024-10-01 DOI: 10.1016/j.jaapos.2024.104016
Omar Solyman MD, FRCS , Abdelrahman M. Elhusseiny MD, MSc , Richard C. Allen MD, PhD
{"title":"The use of trypan blue to enhance intraoperative visualization during congenital lacrimal fistulectomy","authors":"Omar Solyman MD, FRCS ,&nbsp;Abdelrahman M. Elhusseiny MD, MSc ,&nbsp;Richard C. Allen MD, PhD","doi":"10.1016/j.jaapos.2024.104016","DOIUrl":"10.1016/j.jaapos.2024.104016","url":null,"abstract":"<div><div>We describe the use of trypan blue stain to enhance visualization of the tract of the fistula during congenital lacrimal fistulectomy in a 9-year-old boy. This video demonstrates the surgical technique and the intraoperative finding of deep branching of the fistula in this case. We discuss alternative methods of improving delineation of the fistula’s path during congenital lacrimal fistulectomy.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142376267","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
Paradoxical keratitis and dermatitis following adalimumab treatment 阿达木单抗治疗后出现的矛盾性角膜炎和皮炎。
IF 1.2 4区 医学
Journal of Aapos Pub Date : 2024-10-01 DOI: 10.1016/j.jaapos.2024.103970
Noor Ghali MS , Arif O. Khan MD
{"title":"Paradoxical keratitis and dermatitis following adalimumab treatment","authors":"Noor Ghali MS ,&nbsp;Arif O. Khan MD","doi":"10.1016/j.jaapos.2024.103970","DOIUrl":"10.1016/j.jaapos.2024.103970","url":null,"abstract":"<div><div>Anti-tumor necrosis factor monoclonal antibodies are an important tool in the management of rheumatologic disease. However, paradoxical inflammation can be precipitated by their use. This case report describes the development of keratitis and dermatitis following adalimumab treatment for chronic recurrent multifocal osteomyelitis in a 6-year-old girl. The keratitis and dermatitis subsided once topical steroids were started and the adalimumab was held.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604447","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
Overlapping clinical features of persistent fetal vasculature and combined hamartoma of the retina and retinal pigment epithelium 胎儿持续性血管瘤与视网膜和视网膜色素上皮合并火腿肠瘤的临床特征重叠。
IF 1.2 4区 医学
Journal of Aapos Pub Date : 2024-10-01 DOI: 10.1016/j.jaapos.2024.104012
Ece Ozdemir Zeydanli MD, FRCS(Ed) , Ahmet Yucel Ucgul MD, FRCS(Ed) , H. Tuba Atalay MD, FEBO , M. Elizabeth Hartnett MD, FASRS , Ehab El Rayes MD, FASRS , Huban Atilla MD, FEBO , Sengul Ozdek MD, FASRS
{"title":"Overlapping clinical features of persistent fetal vasculature and combined hamartoma of the retina and retinal pigment epithelium","authors":"Ece Ozdemir Zeydanli MD, FRCS(Ed) ,&nbsp;Ahmet Yucel Ucgul MD, FRCS(Ed) ,&nbsp;H. Tuba Atalay MD, FEBO ,&nbsp;M. Elizabeth Hartnett MD, FASRS ,&nbsp;Ehab El Rayes MD, FASRS ,&nbsp;Huban Atilla MD, FEBO ,&nbsp;Sengul Ozdek MD, FASRS","doi":"10.1016/j.jaapos.2024.104012","DOIUrl":"10.1016/j.jaapos.2024.104012","url":null,"abstract":"<div><h3>Purpose</h3><div>To investigate cases exhibiting overlapping features of persistent fetal vasculature (PFV) and combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) and to explore potential associations between these developmental ocular anomalies.</div></div><div><h3>Methods</h3><div>This retrospective, descriptive case series included 9 eyes of 8 patients aged 0-7 years with shared clinical features of PFV and CHRRPE. Diagnoses were established through clinical examination and intraoperative findings.</div></div><div><h3>Results</h3><div>All eyes exhibited elevated pigmented retinal thickening, increased vascular tortuosity, and preretinal fibrotic/gliotic changes or epiretinal membranes. Macular involvement was observed in 56% of cases; peripapillary involvement, in 44%. Four eyes showed hyaloid stalklike fibrotic remnants extending from the lesion to the posterior lens surface, suggestive of PFV component; the other 5 harbored isolated CHRRPE. One patient presented with PFV in one eye and CHRPPE in the other.</div></div><div><h3>Conclusions</h3><div>This study reveals significant clinical overlap between PFV and CHRRPE, with some cases displaying features typically associated with the other condition. The presence of both diagnoses in the same patient further suggests a potential association between these entities. Further research, including molecular studies, is needed to explore this potential connection and deepen our understanding of ocular development.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299944","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
Performance of orbital rapid magnetic resonance imaging (rMRI) as a primary tool for evaluation of suspected pediatric orbital cellulitis 将眼眶快速磁共振成像(rMRI)作为评估疑似小儿眼眶蜂窝织炎的主要工具。
IF 1.2 4区 医学
Journal of Aapos Pub Date : 2024-10-01 DOI: 10.1016/j.jaapos.2024.103998
Anas Yasin MD , Steve Mathew , Joseph Maes , Terri Love MD , Angela Beavers MD , Sandra Allbery MD , Andria M. Powers MD , Paul Rychwalski MD , Samiksha Fouzdar Jain MD
{"title":"Performance of orbital rapid magnetic resonance imaging (rMRI) as a primary tool for evaluation of suspected pediatric orbital cellulitis","authors":"Anas Yasin MD ,&nbsp;Steve Mathew ,&nbsp;Joseph Maes ,&nbsp;Terri Love MD ,&nbsp;Angela Beavers MD ,&nbsp;Sandra Allbery MD ,&nbsp;Andria M. Powers MD ,&nbsp;Paul Rychwalski MD ,&nbsp;Samiksha Fouzdar Jain MD","doi":"10.1016/j.jaapos.2024.103998","DOIUrl":"10.1016/j.jaapos.2024.103998","url":null,"abstract":"<div><div>In 2021, rapid magnetic resonance imaging (rMRI) became a primary imaging tool for suspected pediatric orbital cellulitis at our institution. We retrospectively reviewed the medical records of patients who underwent rMRI to evaluate the effectiveness of the protocol. A total of 31 patients were included (median age, 5.07 years). Of the 30 diagnostic scans, 11 (37%) showed preseptal cellulitis, and 19 (63%) showed orbital cellulitis. In 5 cases, orbital contrast-enhanced computed tomography (CT) was additionally ordered; rMRI and CT scan findings were similar in all 5 cases. Overall, we observed 93% (28/30) concordance of rMRI with the final clinical diagnosis.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299946","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
Geographic disparities and surgical trends of strabismus surgery among Medicare beneficiaries (2016-2021) 医疗保险受益人斜视手术的地域差异和手术趋势(2016-2021 年)。
IF 1.2 4区 医学
Journal of Aapos Pub Date : 2024-10-01 DOI: 10.1016/j.jaapos.2024.104004
Aaron Harris BS , Nora Siegler BS , Hannah L. Walsh BS , Kara M. Cavuoto MD
{"title":"Geographic disparities and surgical trends of strabismus surgery among Medicare beneficiaries (2016-2021)","authors":"Aaron Harris BS ,&nbsp;Nora Siegler BS ,&nbsp;Hannah L. Walsh BS ,&nbsp;Kara M. Cavuoto MD","doi":"10.1016/j.jaapos.2024.104004","DOIUrl":"10.1016/j.jaapos.2024.104004","url":null,"abstract":"<div><div>This study highlights the disparity between the prevalence of adult strabismus in the United States and the limited number of surgeons performing adult strabismus surgery on Medicare beneficiaries. Only 12.2% of pediatric ophthalmologists billed Medicare for adult strabismus procedures during the study period. Additionally, geographic disparities of surgeons performing adult strabismus surgery were evident, with drastically different surgeon-to-patient ratios by state. Overall, the study raises concerns about the adequacy of the surgeon supply to meet the demand for adult strabismus cases.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299928","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
Impact of a ROP mentoring program in rural regions of Colombia ROP 辅导计划对哥伦比亚农村地区的影响。
IF 1.2 4区 医学
Journal of Aapos Pub Date : 2024-10-01 DOI: 10.1016/j.jaapos.2024.104013
Claudia Zuluaga-Botero MD , Jose Maria Solano MD , Carolina Serrano-Calderon MD , Marudis Mestra MD , Maria Camila Rojas MD , José Moreno-Montoya PhD , Alexandra Porras MD , Julian Trujillo-Trujillo MD , Juan Carlos Silva MD, MPH , Clare Gilbert MD
{"title":"Impact of a ROP mentoring program in rural regions of Colombia","authors":"Claudia Zuluaga-Botero MD ,&nbsp;Jose Maria Solano MD ,&nbsp;Carolina Serrano-Calderon MD ,&nbsp;Marudis Mestra MD ,&nbsp;Maria Camila Rojas MD ,&nbsp;José Moreno-Montoya PhD ,&nbsp;Alexandra Porras MD ,&nbsp;Julian Trujillo-Trujillo MD ,&nbsp;Juan Carlos Silva MD, MPH ,&nbsp;Clare Gilbert MD","doi":"10.1016/j.jaapos.2024.104013","DOIUrl":"10.1016/j.jaapos.2024.104013","url":null,"abstract":"<div><h3>Purpose</h3><div>To assess the impact of a retinopathy of prematurity (ROP) mentoring program in four rural regions with 31 neonatal units in Colombia between 2011 and 2019.</div></div><div><h3>Methods</h3><div>Indicators recommended by the national program were used for assessment: screening coverage of eligible preterm newborns, proportion screened with any stage of ROP, and proportion of screened infants treated. Data were also collected on the number of units with ROP services and birth weight (BW) and gestational age (GA) of babies treated. Data on the number of preterm births, BWs of infants screened, and their ROP status (any/none) were extracted from the national health information system. Ophthalmologists in each region provided data on the number screened and treated. A linear-by-linear statistic was used to assess trends in the indicators before and during mentoring.</div></div><div><h3>Results</h3><div>Of the 31 neonatal units, the number providing ROP services increased from 7 (23%) to 26 (84%). The number of eligible infants born in the four regions (total 33,521) was stable over the study period, the proportion screened increased from 14% to 41%, the proportion of those screened who were found to have any ROP tended to decrease over time, and the proportion of those screened who were treated declined from 9% to 3%, with some regional variation. By year 3 no infant with a BW ≥2000 g or GA of &gt;36 weeks was treated.</div></div><div><h3>Conclusions</h3><div>In our study, mentoring rural providers proved a valuable strategy for inducing new screening programs, increasing coverage, and improving local capacities in neonatal care and ROP services.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299929","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
Acute bilateral nodular scleritis following strabismus surgery in a patient with Down syndrome 一名唐氏综合征患者在斜视手术后出现急性双侧结节性巩膜炎。
IF 1.2 4区 医学
Journal of Aapos Pub Date : 2024-10-01 DOI: 10.1016/j.jaapos.2024.103985
Babak Masoomian MD , Maryam Saatchi MD , Mohammad Reza Akbari MD , Arash Mirmohammadsadeghi MD , Motahhareh Sadeghi MD
{"title":"Acute bilateral nodular scleritis following strabismus surgery in a patient with Down syndrome","authors":"Babak Masoomian MD ,&nbsp;Maryam Saatchi MD ,&nbsp;Mohammad Reza Akbari MD ,&nbsp;Arash Mirmohammadsadeghi MD ,&nbsp;Motahhareh Sadeghi MD","doi":"10.1016/j.jaapos.2024.103985","DOIUrl":"10.1016/j.jaapos.2024.103985","url":null,"abstract":"<div><div>Scleritis is a rare complication of strabismus surgery. We present the case of an 11-year-old girl with Down syndrome who underwent strabismus surgery and developed bilateral symmetric nodular scleritis 3 weeks after surgery. Anterior segment optical coherence tomography revealed localized hyporeflective thickening of the sclera at the primary site of muscle insertion in both eyes. Treatment with topical and oral corticosteroids led to resolution of her condition.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141908206","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
Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy 睫状体转运基因 IFT140 的突变导致综合征性先天性视网膜营养不良症。
IF 1.2 4区 医学
Journal of Aapos Pub Date : 2024-10-01 DOI: 10.1016/j.jaapos.2024.104007
Enam Danish MD , Amal Alhashem MD , Nada Naaman MD , Faeeqah Almhmoudi MD , Aziza Mushiba MD , Abdulrahman Almatrafi MD , Abdulaziz Raggam MD , Raghad Bukhari MD
{"title":"Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy","authors":"Enam Danish MD ,&nbsp;Amal Alhashem MD ,&nbsp;Nada Naaman MD ,&nbsp;Faeeqah Almhmoudi MD ,&nbsp;Aziza Mushiba MD ,&nbsp;Abdulrahman Almatrafi MD ,&nbsp;Abdulaziz Raggam MD ,&nbsp;Raghad Bukhari MD","doi":"10.1016/j.jaapos.2024.104007","DOIUrl":"10.1016/j.jaapos.2024.104007","url":null,"abstract":"<div><div>Early-onset, severe retinal dystrophy can be isolated or syndromic, presenting as part of an underlying systemic disease. Mainzer-Saldino syndrome, a rare systemic ciliopathy characterized by skeletal and renal disease, is caused by recessive mutations in the intraflagellar transport 140 chlamydomonas homologue (<em>IFT140</em>) gene. We present a series of 13 cases of early-onset retinal dysfunction with confirmed <em>IFT140</em> mutations from 8 unrelated Saudi families belonging to 3 well-known tribes. All carried the same homozygous missense <em>IFT140</em> mutation (c.1990G&gt;A; p.Glu664Lys) except for a single family, which included 4 affected subjects, 3 of whom were aborted fetuses, with compound heterozygous pathogenic <em>IFT140</em> variants (c.1525-1G&gt;A and c.1990G&gt;A; p.Glu664Lys). Severe retinal dystrophy was present in all living subjects, phenotypically apparent as hyperopia, nystagmus, nyctalopia, poor vision and nonrecordable full-field electroretinography. All affected individuals had skeletal abnormalities, and neurological abnormalities were common, but there was no evidence of chronic renal failure.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299943","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信