Journal of Aapos最新文献

{"title":"Ocular findings of BRPF1 variants: a case report and literature review.","authors":"Lakshmi Soundarya Varsha Mallapragada, Verlyn Yang, Krishna Tumuluri","doi":"10.1016/j.jaapos.2025.104278","DOIUrl":"https://doi.org/10.1016/j.jaapos.2025.104278","url":null,"abstract":"<p><p>Intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) is a genetic disorder caused by variants in BRPF1. We report the case of a 2-year-old girl who presented with drooping of the left upper lid since birth and who was ultimately diagnosed with IDDDFP. Genetic testing identified a maternally inherited stop-loss variant of the BRPF1 gene. The literature on reported cases of BRPF1 is also reviewed.</p>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":" ","pages":"104278"},"PeriodicalIF":1.3,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769235","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":"Optic neuropathy associated with vitamin A deficiency in children: a case series.","authors":"Christine Bourke, Vasiliki Pantelli, Oliver R Marmoy, Dorothy A Thompson, Kshitij Mankad, Sniya Sudhaakar, Gregory James, Jack Garnham, Alan Connor, Moira Cheung, Richard Bowman","doi":"10.1016/j.jaapos.2025.104277","DOIUrl":"https://doi.org/10.1016/j.jaapos.2025.104277","url":null,"abstract":"<p><strong>Background: </strong>Vitamin A deficiency (VAD) is increasingly recognized in high-income countries, driven by conditions such as gastrointestinal disorders, restrictive diets, and avoidant/restrictive food intake disorder (ARFID). ARFID, particularly prevalent in individuals with autism spectrum disorder (ASD), can lead to severe nutrient deficiencies with systemic and ophthalmological consequences. We present a series of pediatric patients with ASD and ARFID who developed severe, progressive vision loss due to optic canal hyperostosis and compressive optic neuropathy associated with VAD.</p><p><strong>Methods: </strong>Patients treated at a single tertiary care center from January 2024 to December 2024 who were diagnosed with VAD, optic neuropathy, and hyperostosis of the optic canals were identified through a retrospective review of medical records. Data collected included full orthoptic and ophthalmological evaluation, electrodiagnostic testing, and fundus imaging where possible. Serological and neuroradiological investigations were included.</p><p><strong>Results: </strong>Five patients were identified. All presented with bilateral or unilateral visual impairment, optic atrophy, and restricted diets dominated by carbohydrate-rich, low-nutrient foods. Investigations revealed VAD alongside other nutritional deficiencies. Imaging demonstrated diffuse skull thickening, optic canal narrowing, and compression of intracanalicular optic nerve segments. Electrophysiological findings suggested optic nerve dysfunction rather than primary retinal involvement. Despite vitamin A supplementation, vision did not recover in most cases, emphasizing the irreversible nature of prolonged optic nerve compression. Surgical decompression was attempted in one case, without visual improvement.</p><p><strong>Conclusions: </strong>This series underscores the importance of early identification and management of ARFID-related nutritional deficiencies to prevent irreversible complications. Further research is needed to explore optimal management strategies, including whether there is any role for optic canal decompression in these patients.</p>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":" ","pages":"104277"},"PeriodicalIF":1.3,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769236","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":"Ophthalmic manifestations of systemic lupus erythematosus at a quaternary children's hospital.","authors":"Rhea W Teng, Tais Estrela, Esra Meidan, Ryan Gise","doi":"10.1016/j.jaapos.2025.104276","DOIUrl":"https://doi.org/10.1016/j.jaapos.2025.104276","url":null,"abstract":"<p><strong>Purpose: </strong>To describe the ophthalmic manifestations and visual outcomes of pediatric systemic lupus erythematosus (SLE) and its commonly used medications, including hydroxychloroquine and corticosteroids.</p><p><strong>Methods: </strong>The charts of all pediatric patients (<21 years of age) treated for SLE between December 2000 and May 2024 at a quaternary children's hospital were retrospectively reviewed. Patient demographics, rheumatology and ophthalmology examinations, and treatments were collected. Outcomes included ophthalmic manifestations, visual acuity, and hydroxychloroquine toxicity screening results.</p><p><strong>Results: </strong>A total of 180 patients were included (87% female). Mean age at presentation was 13.4 ± 3.4 years (range, 3-20), and mean age of SLE diagnosis was 13.5 ± 3.6 years. Of these patients, 84 were evaluated by ophthalmology, and 33 (39%) had one or more ocular manifestations related to SLE or SLE medications, most commonly retinal vascular changes or lesions (n = 8), papilledema (n = 6), hydroxychloroquine toxicity (n = 6), cataracts (n = 5), and dry eye (n = 5). Twenty-six patients had ocular manifestation(s) of SLE and long-term ophthalmology follow-up: initial best-corrected visual acuity of the worse-seeing eye was logMAR 0.05 ± 0.13; final, logMAR 0.01 ± 0.09. Of the remaining patients, 92 not evaluated by our ophthalmology department were using hydroxychloroquine, of whom 29 (32%) had no mention of undergoing hydroxychloroquine toxicity screening at other institutions.</p><p><strong>Conclusions: </strong>There is a substantial burden of ophthalmic disease in pediatric SLE, albeit with good visual outcomes. Pediatric patients should receive prompt baseline ophthalmic examination at SLE diagnosis and routine screening thereafter.</p>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":" ","pages":"104276"},"PeriodicalIF":1.3,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144762184","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":"Strabismus patterns and surgical results in teprotumumab-treated thyroid eye disease: insights from a single-center study.","authors":"Hannah L Walsh, Bashaer Aldhahwani, Charlotte Tibi, Kevin D Clauss, Sara T Wester, Kara M Cavuoto, Hilda Capo","doi":"10.1016/j.jaapos.2025.104275","DOIUrl":"https://doi.org/10.1016/j.jaapos.2025.104275","url":null,"abstract":"<p><strong>Purpose: </strong>To examine strabismus patterns and surgical outcomes in patients with teprotumumab-treated thyroid eye disease (TED).</p><p><strong>Methods: </strong>The medical records of TED patients with strabismus who were treated with teprotumumab from 2014 to 2023 were reviewed retrospectively. Strabismus surgery sensorimotor outcomes in this cohort were also compared with those of a prior study of teprotumumab-untreated patients at the same institution.</p><p><strong>Results: </strong>A total of 28 teprotumumab-treated patients (mean age, 62.3 years; 19 females [68%]) were identified and included. No significant difference in the mean magnitude of horizontal strabismus at distance was observed in 9 patients who had sensorimotor measurements pre- and post-teprotumumab (30.4^Δ ± 26.0^Δ vs 23.1^Δ ± 30.9^Δ [P = 0.375]); however, vertical deviations significantly decreased after treatment (17.2^Δ ± 15.9^Δ vs 3.7^Δ ± 13.6^Δ [P = 0.023]). Post-teprotumumab, all patients (100%) had persistent diplopia; this was treated with prisms in 12 patients (43%), strabismus surgery in 11 (39%), and prisms and surgery in 4 (14%). One patient was not treated. In the surgical subgroup (n = 15), the mean interval from the last teprotumumab treatment to surgery was 16 ± 6.8 months (range, 3-30). The mean preoperative deviations at distance were 17.0^Δ ± 10.8^Δ vertically and 21.3^Δ ± 20.6^Δ horizontally. Postoperatively, mean deviations were -2.0^Δ ± 14.7^Δ vertically and 3.5 ± 8.2^Δ horizontally. After the first strabismus surgery, 73% of patients were diplopia-free, compared with 58% in our previously reported cohort of teprotumumab-untreated patients (P = 0.26), and 67% achieved motor success, compared with 69% in our previous cohort.</p><p><strong>Conclusions: </strong>Teprotumumab did not affect the degree of horizontal strabismus, but the magnitude of vertical deviations was reduced following treatment. The present study achieved a high rate of sensory success and similar rate of motor success in teprotumumab-treated patients compared with teprotumumab-untreated patients from a 2020 study conducted at the same institution.</p>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":" ","pages":"104275"},"PeriodicalIF":1.3,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144762185","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":"Combined strabismus and cataract surgery in adults with longstanding horizontal strabismus and coexisting senile cataract.","authors":"Ankita Bisani, Akila Chandrasekaran, Saranya Settu, Rohan Arora","doi":"10.1016/j.jaapos.2025.104274","DOIUrl":"https://doi.org/10.1016/j.jaapos.2025.104274","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the factors affecting postoperative outcomes in a cohort of patients who underwent combined surgery for horizontal strabismus and visually significant senile cataract.</p><p><strong>Methods: </strong>We retrospectively reviewed the records of adults who underwent combined strabismus and cataract surgery for horizontal strabismus and senile cataracts at a single institution between January 2022 and January 2024. Best-corrected visual acuity, astigmatism, and angle of deviation were analyzed preoperatively, on postoperative day 14, and at last follow-up.</p><p><strong>Results: </strong>A total of 40 eyes of 34 patients (21 females), 58.5 ± 7.1 years of age were included. Mean follow-up was 5.2 months (range, 1-26). All eyes achieved visual success, defined as visual acuity of ≤0.3 logMAR, 30 patients (88%) achieved motor success, and 4 (12%) had residual misalignment at final follow-up. None of the preoperative variables assessed significantly predicted postoperative motor outcome. There were no intra- or postoperative complications in any patients.</p><p><strong>Conclusions: </strong>In our study cohort, cataract surgery was effective in all patients, strabismus surgery outcomes were comparable to standard horizontal strabismus surgeries, and no complications were noted. The outcomes of neither procedure were compromised by being performed in combination.</p>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":" ","pages":"104274"},"PeriodicalIF":1.3,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755038","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":"Ophthalmic outcomes five years after lensectomy among children with Down syndrome.","authors":"Alejandra G de Alba Campomanes, Michael X Repka, Rui Wu, Sarah R Hatt, Marielle P Young, Emily A McCourt, Jeffrey D Colburn, Wesley T Beaulieu, Raymond T Kraker, Susan A Cotter, Jonathan M Holmes","doi":"10.1016/j.jaapos.2025.104273","DOIUrl":"https://doi.org/10.1016/j.jaapos.2025.104273","url":null,"abstract":"","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":" ","pages":"104273"},"PeriodicalIF":1.3,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755040","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":"An AND versus OR study of retinopathy of prematurity screening criteria.","authors":"Taylor L Aaserud, Laurel Lam, Samantha Pastore, Alla Kushnir, Barry N Wasserman","doi":"10.1016/j.jaapos.2025.104272","DOIUrl":"https://doi.org/10.1016/j.jaapos.2025.104272","url":null,"abstract":"<p><strong>Background: </strong>The current United States screening criteria for retinopathy of prematurity (ROP) is highly sensitive (gestational age [GA] of ≤30 weeks or birthweight [BW] of ≤1500 g) and often result in unnecessary examinations. Indirect ophthalmoscopic ROP examinations can be stressful for infants and require fellowship-trained ophthalmologists. The purpose of this study was to evaluate the safety of excluding low-risk premature infants: those who only meet one criterion of either GA or BW.</p><p><strong>Methods: </strong>The medical records of premature infants who underwent ROP screening at a tertiary academic center between 2012 and 2022 were reviewed retrospectively. Demographics, BW, GA, ROP classification, rates of treatment, and need for subsequent inpatient follow-up were compared among patients that met only one criterion (OR group) versus both criteria (AND group).</p><p><strong>Results: </strong>A total of 926 charts were reviewed; 759 patients met the inclusion criteria. Of these, 181 (23.8%) OR neonates were compared to 578 (76.2%) AND neonates. No babies in the OR group developed treatment-requiring type 1 ROP, whereas 52 AND neonates (9.0%) required treatment for type 1 ROP (P < 0.001). Follow-up was necessary for 90 OR group neonates (49.7%) and 462 AND neonates (79.9%) (P < 0.001).</p><p><strong>Conclusions: </strong>No patients in the OR group developed treatment-requiring disease, suggesting that sensitivity is maintained with the exclusion of single criterion infants. This data, consistent with other published work, suggests use of the current guidelines in developed countries be reexamined to increase specificity and decrease the number of unnecessary ROP examinations.</p>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":" ","pages":"104272"},"PeriodicalIF":1.3,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755037","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":"Forehead subcutaneous fat atrophy following a single steroid injection for acute Brown syndrome.","authors":"Joseph F Griffith, Melissa M Hazen, Rao Chundury","doi":"10.1016/j.jaapos.2025.104271","DOIUrl":"https://doi.org/10.1016/j.jaapos.2025.104271","url":null,"abstract":"<p><p>A 4-year-old girl developed fat atrophy in her forehead 1 month after a single intratrochlear triamcinolone injection. The fat atrophy resolved spontaneously within 1 year. Pediatric ophthalmologists should be aware that fat atrophy is a risk of intratrochlear steroid injections for management of acute Brown syndrome.</p>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":" ","pages":"104271"},"PeriodicalIF":1.3,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144755039","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":"Impact of video display terminal use on ophthalmic symptoms and mental health in adolescents.","authors":"Liping Zhang, Chunxia Peng, Li Li","doi":"10.1016/j.jaapos.2025.104270","DOIUrl":"https://doi.org/10.1016/j.jaapos.2025.104270","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the effects of video display terminal (VDT) use on the rate of computer vision syndrome questionnaire (CVSQ)-related symptoms and mental health among adolescents.</p><p><strong>Methods: </strong>We conducted a retrospective cross-sectional study of adolescents between 2022 and 2023 who had no organic lesions in the eyes and best-corrected visual acuity of ≤logMAR 0.0 with astigmatism ≤2.50 D. Ocular examinations were performed, and a questionnaire designed to elicit VDT usage information, evaluate CVSQ-related symptoms, and assess mental health was administered. Participants were divided into three groups based on hours of daily VDT use: ≤3 hours (group 1), 3-6 hours (group 2), and ≥6 hours (group 3).</p><p><strong>Results: </strong>A total of 120 participants (65 males) were included. Mean participant age was 14.22 ± 1.12 years. Mean VDT time was 4.2 hours per day. Visual fatigue (57.5%) was the most common symptom of CVS. Despite VDT use, the psychological health of adolescents remained positive, with approximately 93.3% reporting feeling cheerful. Significant differences in the incidence of double vision were found among the groups (P = 0.012), with group 3 having a significantly higher incidence compared with group 1 (P = 0.004). No correlation was observed between VDT hours and dry eye disease, accommodative function, or myopia (P > 0.05). Normal as opposed to abnormal fusional vergence facility (FVF) was associated with lower risk for visual fatigue (OR = 0.222, P = 0.015).</p><p><strong>Conclusions: </strong>In our study cohort, self-reported results showed that VDT use did not influence adolescents' mental health, but VDT use did increase ocular symptoms. Deficits in FVF can exacerbate visual fatigue, highlighting the need for preventative measures.</p>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":" ","pages":"104270"},"PeriodicalIF":1.3,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144735037","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":"Surgical management of hypotropia and exotropia in high myopia: a case report.","authors":"Rita Teixeira-Martins, Inês Coelho-Costa, Renato Santos Silva, Augusto Magalhães","doi":"10.1016/j.jaapos.2025.104264","DOIUrl":"https://doi.org/10.1016/j.jaapos.2025.104264","url":null,"abstract":"<p><p>Myopic strabismus, also known as heavy eye syndrome, is a rare ocular motility disorder, typically presenting with bilateral esotropia and hypotropia. We present the case of a 42-year-old man who presented with progressive hypotropia and exotropia rather than esotropia. Orbital imaging revealed a superonasal staphyloma with pathological changes in the extraocular muscles. Surgical correction involved loop myopexy between the superior rectus and medial rectus muscles combined with lateral rectus recession.</p>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":" ","pages":"104264"},"PeriodicalIF":1.2,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718990","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}