Journal of Aapos最新文献

{"title":"Duane syndrome associated with Rubinstein-Taybi syndrome type II","authors":"Arjun Sharma MD,&nbsp;Sanjana Suraneni BS,&nbsp;Elena Bitrian MD,&nbsp;Craig A. McKeown MD","doi":"10.1016/j.jaapos.2024.103990","DOIUrl":"10.1016/j.jaapos.2024.103990","url":null,"abstract":"<div><div>We report the case of an 8-month-old infant born at 33 weeks’ gestation referred to our institution for evaluation of left eye abduction deficit and microcephaly. Ophthalmic examination revealed a left eye abduction deficit with palpebral fissure narrowing on adduction along with palpebral fissure widening on abduction, consistent with Duane syndrome. Genetic testing revealed a pathogenic <em>EP300</em> mutation confirming Rubinstein-Taybi syndrome type II. The cooccurrence of Duane syndrome and Rubinstein-Taybi syndrome is rare, with only 3 cases in the literature, 2 with genetic confirmation. Potential involvement of the cranial nerves in Rubinstein-Taybi syndrome may explain its cooccurrence with Duane syndrome, which is seemingly more common in EP300-mediated disease.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"28 5","pages":"Article 103990"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142057173","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}

{"title":"Patch-free streaming contrast-rebalanced dichoptic cartoons versus patching for treatment of amblyopia in children aged 3 to 5 years: a pilot, randomized clinical trial","authors":"Reed M. Jost MS ,&nbsp;Eileen E. Birch PhD ,&nbsp;Yi-Zhong Wang PhD ,&nbsp;Lori M. Dao MD ,&nbsp;David Stager MD ,&nbsp;Becky Luu OD ,&nbsp;Cynthia L. Beauchamp MD ,&nbsp;Prashanthi Giridhar MD ,&nbsp;Taylor A. Brin PhD ,&nbsp;Alex S. Baldwin PhD ,&nbsp;Robert F. Hess PhD ,&nbsp;Benjamin Thompson PhD","doi":"10.1016/j.jaapos.2024.103991","DOIUrl":"10.1016/j.jaapos.2024.103991","url":null,"abstract":"<div><h3>Background</h3><div>We developed and tested a dichoptic treatment designed for younger children that can be viewed freely and involves a dichoptic manipulation of a popular animation series that enables contrast-rebalancing without disrupting fusion. Our aim was to assess whether this novel amblyopia treatment is superior to patching in children aged 3-5 years.</div></div><div><h3>Methods</h3><div>A total of 34 children with amblyopia were randomly assigned to contrast-rebalanced dichoptic cartoons (4 hours/week) or patching (14 hours/week) for 2 weeks. Children in the cartoon group continued watching cartoons for an additional 2 weeks. Designed to target the youngest and most treatable children, the dichoptic cartoons presented the entire scene to the amblyopic eye at 100% contrast, while the fellow eye view was presented at reduced contrast with the main character omitted. Best-corrected visual acuity (BCVA), stereoacuity, suppression, and manual dexterity were measured at each visit.</div></div><div><h3>Results</h3><div>After 2 weeks, improvement in amblyopic eye BCVA was greater for dichoptic treatment than for patching, with a mean improvement of 0.11 ± 0.08 versus 0.06 ± 0.09 logMAR, respectively (<em>P</em> = 0.04). Stereoacuity, suppression, and manual dexterity did not improve significantly more in the dichoptic group than the patching group at 2 weeks. After 4 weeks of dichoptic cartoon treatment, mean visual acuity improvement in the dichoptic group was 0.16 logMAR (95% CI, 0.10-0.21).</div></div><div><h3>Conclusions</h3><div>In our study cohort, a contrast-rebalanced dichoptic cartoon was more effective than patching in treating childhood amblyopia after 2 weeks. Dichoptic cartoons that rebalance contrast to overcome suppression provide an additional treatment option for amblyopia in young children.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"28 5","pages":"Article 103991"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299945","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}

{"title":"Family of juvenile X-linked retinoschisis with varied presentation: a case series with RS1 genetic analysis","authors":"Baskar Panirsheeluam MD ,&nbsp;Shuaibah Abd Ghani M Med (Ophthal) ,&nbsp;Mohamad Israk Mohamad Isa MS (Ophthal) ,&nbsp;Sheena Mary Alexander MOphthal ,&nbsp;Jemaima Che Hamzah PhD ,&nbsp;Cheng Teck Chee Dr Ophthal ,&nbsp;Chan Kwok Hoong MBBS","doi":"10.1016/j.jaapos.2024.104006","DOIUrl":"10.1016/j.jaapos.2024.104006","url":null,"abstract":"<div><div><em>RS1</em> gene mutations are known to be a direct cause of the hereditary retinopathy known as retinoschisis. We describe a group of 3 siblings with the same <em>RS1</em> gene mutation who presented with different retinopathy phenotypes. Genetic testing confirmed the <em>RS1</em> genotypes. Clinical ophthalmoscopy, color fundus photography, optical coherence tomography, and fundus fluorescein angiography identified manifestations of Coats-like exudative vitreoretinopathy, retinal detachment, and retinoschisis.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"28 5","pages":"Article 104006"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299926","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}

{"title":"Characteristics, associations, and outcomes of children with posterior segment coloboma","authors":"Francisco Altamirano MD ,&nbsp;Sandra Hoyek MD ,&nbsp;Shravan V. Savant MD ,&nbsp;Hanna De Bruyn BS ,&nbsp;Pablo Altschwager MD ,&nbsp;Isdin Oke MD, MPH ,&nbsp;Nimesh A. Patel MD ,&nbsp;Efren Gonzalez MD","doi":"10.1016/j.jaapos.2024.104005","DOIUrl":"10.1016/j.jaapos.2024.104005","url":null,"abstract":"<div><h3>Purpose</h3><div>To describe the clinical characteristics and outcomes of children with posterior segment coloboma (PSC).</div></div><div><h3>Methods</h3><div>The medical records of children (age &lt;18 years) with PSC examined at Boston Children’s Hospital from May 1997 to May 2023 were reviewed retrospectively. The following data were collected: demographics, ocular and systemic conditions, coloboma type according to the Ida Mann (IM) classification, and best-corrected visual acuity. Rate of retinal detachment (RD) was calculated. A <em>t</em> test was used to compare visual outcomes by coloboma classification. Logistic regression was used to evaluate the association of CHARGE syndrome with coloboma classification and laterality.</div></div><div><h3>Results</h3><div>A total of 501 eyes of 343 patients were included. Differences in the mean best-corrected visual acuity of eyes with large PSC (IM type 1-3) and moderate-to-small PSC (IM type 4-7) were found at initial and final examination (both <em>P</em> &lt; 0.001). RD rate was 5% per eye (95% CI, 3.25-7.28) and 7.3% per patient (95% CI, 4.77-10.57). After adjusting for covariates, children with CHARGE syndrome were at increased odds of having IM type 1, type 2, or type 3 colobomas (OR = 2.5; 95% CI, 1.4-4.8; <em>P</em> = 0.003) and bilateral fundus colobomas (OR = 7.0; 95% CI, 3.4-14.5; <em>P</em> &lt;0.001), regardless of IM type, compared to children with PSC and no CHARGE association.</div></div><div><h3>Conclusions</h3><div>Eyes with large IM colobomas had worse visual outcomes than those with smaller defects; however, both experienced visual impairment. Children with PSC had a low rate of RD. Children with CHARGE syndrome often presented with bilateral and large IM colobomatous defects.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"28 5","pages":"Article 104005"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142309011","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}

{"title":"Fluoxetine as a possible treatment for adult amblyopia: results of a double-blind, randomized, placebo-controlled trial","authors":"Arash Mirmohammadsadeghi MD ,&nbsp;Alireza Mousavi MD ,&nbsp;Mohammad Reza Akbari MD ,&nbsp;Hassan Khojasteh MD ,&nbsp;Babak Masoomian MD ,&nbsp;Motahhareh Sadeghi MD ,&nbsp;Samira Yadegari MD ,&nbsp;Hassan Asadigandomani MD","doi":"10.1016/j.jaapos.2024.104009","DOIUrl":"10.1016/j.jaapos.2024.104009","url":null,"abstract":"<div><h3>Purpose</h3><div>To evaluate the effects of oral fluoxetine on visual acuity and visual-evoked potential (VEP) parameters in adults patching for amblyopia.</div></div><div><h3>Methods</h3><div>In this randomized clinical trial, adults (&gt;18 years of age) with anisometropic or strabismic amblyopia were assigned randomly to a treatment (fluoxetine) group or a placebo group. Standard treatments for amblyopia (glasses prescription and patching) were prescribed for 4 months for all patients beforehand. The first group received fluoxetine (20 mg per day) and the second group received a placebo for 3 months, both continuing patching. Visual acuity evaluation and VEP were performed before and after treatment.</div></div><div><h3>Results</h3><div>A total of 55 participants were included: 29 in the fluoxetine group and 26 in the placebo group. Mean age was 27.2 ± 8.6 years (18-54). The mean logMAR visual acuity of the amblyopic eye improved by 0.20 ± 0.24 (0-0.8) in the fluoxetine group (<em>P</em> &lt; 0.001) and by 0.08 ± 0.15 (0-0.7) in the placebo group (<em>P</em> = 0.01); mean logMAR improvement was significantly higher in the fluoxetine group than in the placebo group (<em>P</em> = 0.04). At the end of the study, mean visual acuity of the fluoxetine group (0.36 ± 0.21 log MAR) was better than the placebo group (0.43 ± 0.35 log MAR). Among the VEP parameters, N75 amplitude did not change significantly in either group relative to baseline, but the changes were statistically significantly different between the two groups (<em>P</em> = 0.05); N135 latency improved from baseline in the fluoxetine group (<em>P</em> = 0.03).</div></div><div><h3>Conclusions</h3><div>In our study cohort, fluoxetine treatment resulted in greater improvement in visual acuity than placebo during patching for adult amblyopia.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"28 5","pages":"Article 104009"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299927","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}

{"title":"Intravenous fluorescein overdose in a child undergoing fluorescein angiography","authors":"Rhea W. Teng BS,&nbsp;Michael T.B. Nguyen MD,&nbsp;David G. Hunter MD, PhD,&nbsp;Pablo Altschwager MD","doi":"10.1016/j.jaapos.2024.103996","DOIUrl":"10.1016/j.jaapos.2024.103996","url":null,"abstract":"<div><div>Fluorescein angiography is a fluorescent dye-based imaging procedure, most commonly indicated in the pediatric setting to evaluate peripheral retinal vascular lesions. Fluorescein dye is organic, water soluble, and largely excreted renally, with a reassuring safety profile at therapeutic doses. While toxicity with intrathecal overdose has been reported, the effect of intravenous exposure to supratherapeutic levels has not been previously documented in the literature. We report the case of a 10-month-old girl with incontinentia pigmenti who received more than four times the recommended dosage of fluorescein during scheduled fluorescein angiography and developed marked yellowing of skin, sclera, stool, and urine. She was seen by the toxicology team and underwent monitoring for 8 hours before being discharged, with no adverse consequences detected during follow-up.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"28 5","pages":"Article 103996"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299931","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}

{"title":"Preventable vision loss in children with Coats disease","authors":"Francisco Altamirano MD,&nbsp;Efren Gonzalez MD,&nbsp;Ankoor S. Shah MD, PhD,&nbsp;Isdin Oke MD, MPH","doi":"10.1016/j.jaapos.2024.104000","DOIUrl":"10.1016/j.jaapos.2024.104000","url":null,"abstract":"<div><h3>Purpose</h3><div>To describe the prevalence and risk factors associated with amblyogenic refractive error in children with Coats disease.</div></div><div><h3>Methods</h3><div>The medical records of children (&lt;18 years of age) with unilateral Coats disease treated at a single tertiary care center were retrospectively reviewed. Data collected included patient demographics, ocular examinations, and treatments. Outcomes included the prevalence and factors associated with amblyogenic refractive error.</div></div><div><h3>Results</h3><div>A total of 50 children (82% male) were included; of these, 37 (74%) had refractive data to review. The median age at presentation was 5 years (IQR, 2-10). The Coats disease classification was stage 1 in 1 (2%), stage 2 in 29 (58%), and stage 3 or greater in 20 (40%). Most children (76%) had at least one visit with a pediatric specialist; the rest were only seen by a retina specialist. Among patients with refractive data, amblyogenic refractive error was identified in 46%. Glasses were prescribed to 50% of children. Children diagnosed at an earlier age had increased odds of amblyogenic refractive error (OR = 0.72; 95% CI, 0.57-0.91; <em>P</em> = 0.006) than those diagnosed at an older age.</div></div><div><h3>Conclusions</h3><div>Our results suggest that amblyogenic refractive error is prevalent among children with Coats disease, and refractions are not always performed. There is a need to coordinate care between pediatric and retina specialists caring for children with Coats disease to ensure timely diagnosis of amblyogenic refractive error to optimize visual outcomes in this population.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"28 5","pages":"Article 104000"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299948","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}

{"title":"Information for Readers","authors":"","doi":"10.1016/S1091-8531(24)00322-7","DOIUrl":"10.1016/S1091-8531(24)00322-7","url":null,"abstract":"","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"28 5","pages":"Article 104025"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142537101","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}

{"title":"Congenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5","authors":"Rashmi Krishnamurthy DNB ,&nbsp;Sirisha Senthil FRCS ,&nbsp;Jeyapoorani Balasubramanian PhD ,&nbsp;Muralidhar Ramappa MD","doi":"10.1016/j.jaapos.2024.104001","DOIUrl":"10.1016/j.jaapos.2024.104001","url":null,"abstract":"<div><div>Brittle cornea syndrome type 2 is associated with corneal thinning, joint hypermobility, dental and skeletal issues, osteal fragility, and deafness. We present a rare association of congenital glaucoma with brittle cornea syndrome type 2 and keratoglobus in a patient with a novel <em>PRDM5</em> gene mutation. Our case underscores the importance of genetic testing for early clinical diagnosis and tailored surgical approaches.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"28 5","pages":"Article 104001"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299925","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}

{"title":"Bilateral cataract surgery in children: immediate sequential versus delayed sequential surgery","authors":"Helen Wondem MD ,&nbsp;Sheldon Stohl MD ,&nbsp;Zoma Tede MD ,&nbsp;Hadas Mechoulam MD ,&nbsp;Irene Anteby MD","doi":"10.1016/j.jaapos.2024.103992","DOIUrl":"10.1016/j.jaapos.2024.103992","url":null,"abstract":"<div><h3>Purpose</h3><div>To compare ocular and anesthesia-related complications in a cohort of patients having undergone either delayed sequential bilateral cataract surgery (DSBCS) or immediate sequential bilateral cataract surgery (ISBCS).</div></div><div><h3>Methods</h3><div>The medical records of children who underwent bilateral cataract surgery at our institution between 2012 and 2021were reviewed retrospectively. Included patients were 0-24 months of age, aphakic, and followed for at least 1 year after surgery.</div></div><div><h3>Results</h3><div>A total of 56 children were included: 23 underwent ISBCS; 33, DSBCS. Mean age at surgery was 2.6 ± 2.5 months for ISBCS patients and 2.8 ± 3.0 months for DSBCS patients (<em>P</em> = 0.752). Association with systemic diseases was more common in the ISBCS group. The mean anesthesia time per child was shorter in the ISBCS group (<em>P</em> &lt; 0.001), although the mean total procedure time was similar in both groups. The rate of intraoperative anesthesia-related complications and intraocular complications was similar in both groups. There were no cases of endophthalmitis. The mean number of additional surgical interventions per child and the mean number of follow-up visits within 1 year were similar between groups. Children in the ISBCS group required fewer nights of hospital admission (<em>P</em> &lt; 0.001).</div></div><div><h3>Conclusions</h3><div>ISBCS in children in this series did not lead to an increased incidence of ocular or anesthesia-related complications compared with DSBCS. ISBCS avoids repeated anesthesia and shortens the total time that the child is under anesthesia.</div></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":"28 5","pages":"Article 103992"},"PeriodicalIF":1.2,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299924","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}