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Lipemia retinalis in a neonate with Kaufman oculocerebrofacial syndrome: a case of co-occurrence.

Khadar SMA, Pradhan S, Rajendran S

J AAPOS · 2026 Jun · PMID 42320594 · Publisher ↗

We report the case of a term-born infant girl with notable ocular and facial anomalies who was found to have creamy white retinal vessels consistent with lipemia retinalis. Laboratory tests showed severe hypertriglycerid... We report the case of a term-born infant girl with notable ocular and facial anomalies who was found to have creamy white retinal vessels consistent with lipemia retinalis. Laboratory tests showed severe hypertriglyceridemia and high cholesterol levels. Neuroimaging revealed microphthalmia and optic nerve hypoplasia, and genetic testing identified a homozygous UBE3B mutation, confirming Kaufman oculocerebrofacial syndrome. The infant was treated with a fat-restricted diet and fenofibrate, which led to normal lipid levels and complete fundus recovery within one month. This case represents a clinical co-occurrence of lipemia retinalis and Kaufman oculocerebrofacial syndrome. Direct association cannot be established. Ophthalmic findings may provide an important clue to underlying systemic metabolic abnormalities in neonates.

Extensive conjunctival papillomatosis in focal dermal hypoplasia.

Koulov N, Williams T, Dunnigan J … +1 more , Kheirkhah A

J AAPOS · 2026 Jun · PMID 42320593 · Publisher ↗

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Dacryoendoscopic findings and treatment of congenital lacrimal duct obstruction in Wolf-Hirschhorn syndrome: a case series.

Nakamura J, Matsumura N, Ohno T … +3 more , Goto S, Kumagai K, Mizuki N

J AAPOS · 2026 Jun · PMID 42309476 · Publisher ↗

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A presumed case of tinea blepharociliaris in a 10-year-old boy.

Fine A, Hutchinson KA, Leifso K … +1 more , Strube YNJ

J AAPOS · 2026 Jun · PMID 42309475 · Publisher ↗

We report the case of a 10-year-old boy with a unilateral periocular rash, initially misdiagnosed and treated unsuccessfully with multiple courses of topical steroids, oral antibiotics, and eye drops. The rash improved t... We report the case of a 10-year-old boy with a unilateral periocular rash, initially misdiagnosed and treated unsuccessfully with multiple courses of topical steroids, oral antibiotics, and eye drops. The rash improved temporarily with tacrolimus ointment, but periocular lesions persisted and spread. Although skin scraping was unsuccessful, the patient was diagnosed clinically with tinea blepharociliaris and treated empirically with a 2-week course of oral antifungal, resulting in rapid clinical improvement. The case highlights key clinical signs to avoid diagnostic delays, unnecessary treatments, and patient distress and supports empiric antifungal therapy when diagnostic tests are inconclusive.

Ferret attack requiring eyelid, lacrimal system, and facial reconstruction to restore anatomy and function.

Goldin MR, Mawn LA

J AAPOS · 2026 Jun · PMID 42297333 · Publisher ↗

Despite the popularity of ferret ownership, the medical and surgical management of ferret attacks is not well documented in the literature. Most cases of ferret attack involve infants or young children, who are unable to... Despite the popularity of ferret ownership, the medical and surgical management of ferret attacks is not well documented in the literature. Most cases of ferret attack involve infants or young children, who are unable to protect themselves and are more likely to sustain severe injuries. Existing literature suggests that ferret bites are particularly severe, sometimes fatal, and often require antimicrobial treatment, rabies prevention, and reconstructive surgery. Here, we describe the management of extensive facial, lacrimal, eyelid, and orbital lacerations caused by a pet ferret attack on a 5-month-old child, with successful restoration of anatomy, preservation of function, and long-term cosmetic optimization.

Postoperative syphilitic scleritis following strabismus surgery.

Parunakian E, Yehezkeli V, Khitri M … +1 more , Fayad M

J AAPOS · 2026 Jun · PMID 42285281 · Publisher ↗

Syphilis can present with a wide range of ocular manifestations; however, scleritis is exceedingly rare. Although various infectious and noninfectious causes of scleritis following strabismus surgery have been documented... Syphilis can present with a wide range of ocular manifestations; however, scleritis is exceedingly rare. Although various infectious and noninfectious causes of scleritis following strabismus surgery have been documented, syphilitic scleritis has not been previously reported in this context. We present the case of a 77-year-old man who underwent bilateral horizontal strabismus surgery complicated by postoperative necrotizing scleritis. Initial postoperative treatment with antibiotics and oral corticosteroids did not lead to significant improvement. The patient underwent an extensive rheumatologic and infectious workup and was treated for latent syphilis, resulting in a marked improvement and quiescence of his scleritis.

Initial postoperative alignment versus long-term outcomes in intermittent exotropia surgery.

Pediatric Eye Disease Investigator Group

J AAPOS · 2026 Jun · PMID 42203105 · Full text

PURPOSE: To investigate whether immediate postoperative esodeviation is associated with superior long-term outcomes following surgery for childhood intermittent exotropia (IXT). METHODS: We performed a post hoc analysis... PURPOSE: To investigate whether immediate postoperative esodeviation is associated with superior long-term outcomes following surgery for childhood intermittent exotropia (IXT). METHODS: We performed a post hoc analysis of randomized clinical trial data, where 185 children 3 to <11 years of age underwent surgery for IXT with a 1-week visit and at least one of the 6-month to 8-year visits. Participants had been randomized to bilateral lateral rectus recession (BLRc) or unilateral lateral rectus recession with medial rectus resection (R&R). One-week postoperative distance deviation by prism and alternate cover test (PACT) was analyzed according to 5 levels. RESULTS: For 1-week postoperative distance exodeviation (n = 32), orthophoria (n = 30), 1-7 esodeviation (n = 37), 8-15 esodeviation (n = 45), and >15 esodeviation (n = 41), the cumulative probability of motor recurrence by 8 years was 54%, 57%, 35%, 28%, and 5%, respectively. The cumulative probability of problematic esotropia was 3%, 3%, 0%, 9%, and 12%, respectively. Compared with orthophoria, cumulative probability of motor recurrence by 8 years was lower with 1-week alignment of >15 esodeviation (difference, -52%; 95% CI, -77% to -27%) and 8-15 esodeviation (difference, -29%; 95% CI, -57% to -1%) but not for 1-7 esodeviation or exodeviation. Overall composite failure (recurrence or problematic esotropia) was lowest with an esodeviation >15 at 1 week (15% vs 53%, 55%, 31%, 40%, resp.). CONCLUSIONS: Using current surgical doses, a 1-week alignment of >7 esodeviation is associated with a reduced rate of motor recurrence, albeit with a small increase in problematic esotropia.

Posterior microphthalmia related to PRSS56 variants in a Saudi cohort: a longitudinal study of visual function.

Almhmoudi F, Almatrafi AM, Batais WT … +3 more , Zamzami OS, Zomia ASA, Bamusa A

J AAPOS · 2026 Jun · PMID 42184889 · Publisher ↗

PURPOSE: To report clinical, multimodal imaging, electrophysiologic, and genetic findings in a cohort of patients with posterior microphthalmia (PM), with emphasis on long-term visual function, a feature rarely addressed... PURPOSE: To report clinical, multimodal imaging, electrophysiologic, and genetic findings in a cohort of patients with posterior microphthalmia (PM), with emphasis on long-term visual function, a feature rarely addressed in current literature. METHODS: This retrospective, longitudinal case series was conducted at King Fahd Armed Forces Hospital, Jeddah, Saudi. Arabia. Six patients from 4 consanguineous Saudi families were followed for 2-16 years (median, 10); 2 more patients had only single visits. All underwent comprehensive ophthalmologic evaluations, including best-corrected visual acuity (BCVA), in logMAR, cycloplegic refraction, intraocular pressure, quantitative color vision testing, fundus examination, multimodal imaging (OCT, fundus autofluorescence, photography), and full-field electroretinography (ffERG). Genetic testing was performed clinically using next-generation sequencing. RESULTS: All patients showed hallmark PM features: high hyperopia (+12.00 D to +17.75 D), short axial length (12.2-16.4 mm), papillomacular folds, foveoschisis, and EZ disruption. OCT consistently revealed structural anomalies; ffERG responses varied by age. Color vision was preserved, and only mild visual field depression was observed in some patients. BCVA remained relatively stable over time, with limited improvement after age 5. Genetic testing identified pathogenic homozygous PRSS56 variants, including c.1066dup, c.388T>G, and a novel nonsense variant c.1405G>T p.(Glu469∗). CONCLUSIONS: This PM case series highlights the role of early diagnosis and genetic testing in managing PM, especially in consanguineous populations.

Ocular findings and long-term outcomes in pediatric abusive head trauma.

Huang C, Low A, Zaidi Z … +2 more , He YG, Wang AL

J AAPOS · 2026 Jun · PMID 42177940 · Publisher ↗

BACKGROUND: Pediatric abusive head trauma, colloquially known as shaken baby syndrome, is the most common cause of death and disability from child abuse. The purpose of this study was to characterize ocular and systemic... BACKGROUND: Pediatric abusive head trauma, colloquially known as shaken baby syndrome, is the most common cause of death and disability from child abuse. The purpose of this study was to characterize ocular and systemic findings in abusive head trauma and identify predictors of long-term visual and developmental outcomes. METHODS: We conducted a retrospective cohort study of patients diagnosed with abusive head trauma at Children's Medical Center Dallas between 2006 and 2022. Inclusion criteria were ophthalmology consultation, positive eye findings, and high concern for abuse. Data was analyzed by logistic regression and the Fisher exact test, with significance at P < 0.05. RESULTS: A total of 38 patients (24 males [63%]) were included. Mean age was 5.85 months (range, 1-20). All patients had subdural hematomas, and 74% required intubation. Of 73 injured eyes, 69 (95%) had intraretinal hemorrhage; 51 (70%), preretinal hemorrhage; 16 (22%), vitreous hemorrhage; and 11 (15%) subretinal hemorrhage. Three patients (8%) had unilateral findings. Disk pallor was a strong independent predictor of moderate to severe patient-level visual impairment (P < 0.001). Skull and long bone fractures were also associated with worse vision. Vitrectomy was performed in 15 eyes. Vitrectomy was not associated with improved visual outcomes compared to observation. 4 patients (11%) died during follow-up, and all had severe bilateral visual impairment. CONCLUSIONS: Disk pallor, skull fractures, and long bone fractures were associated with poor visual outcomes in patients with abusive head trauma. Vitrectomy was not associated with improved visual outcomes, potentially because of confounding variables.

Long-term outcomes of medial rectus muscle recession for various types of esotropia.

Moon Y, Joo HJ, Kim SJ

J AAPOS · 2026 Jun · PMID 42173354 · Publisher ↗

PURPOSE: To evaluate the long-term outcomes of medial rectus muscle recession for various subtypes of esotropia and to identify preoperative factors associated with surgical success and postoperative alignment stability.... PURPOSE: To evaluate the long-term outcomes of medial rectus muscle recession for various subtypes of esotropia and to identify preoperative factors associated with surgical success and postoperative alignment stability. METHODS: This retrospective cohort study included pediatric patients (<15 years of age) who underwent unilateral or bilateral medial rectus muscle recession for infantile esotropia (IET), partially accommodative esotropia (PAET), acquired nonaccommodative esotropia (ANAET), or neurologic esotropia (NET), with a minimum postoperative follow-up of 3 years. The following data were collected: demographic and clinical characteristics, deviation angles, refractive errors, and postoperative alignment at multiple time points. Sensory outcomes were assessed using the Titmus stereo test and Worth Four-Dot test. Surgical outcomes were classified as success, undercorrection/recurrence, or overcorrection. RESULTS: A total of 344 patients were included: IET, 114; PAET, 123; ANAET, 43; NET, 64. Mean age at surgery was 3.4 ± 2.2 years. The overall long-term success rate was 54%, with overcorrection rates of 39% in IET and 42% in NET groups. PAET demonstrated the lowest overcorrection rate (15%) but a progressive increase in recurrence over time. Younger age at onset, larger deviation angle, and presence of amblyopia were significantly associated with overcorrection. Postoperative sensory function was poorer in overcorrected patients, with only 11% achieving stereopsis better than 140 arcsec. CONCLUSIONS: Overcorrection increased over time across all esotropia types, particularly in IET and NET. PAET patients also exhibited an increase in undercorrection/recurrence over time. Our findings underscore the need for individualized surgical strategies and extended follow-up, especially for patients with neurological impairments, abnormal binocular function, or accommodative components, to ensure stable alignment over time.

Time to strabismus surgery among racial and ethnic groups: a multicenter retrospective study.

Cottom S, Garrett S, Hoang D … +9 more , Ding K, Joseph S, Enyedi L, Walker C, Kubsad D, Ohan M, Hashimi H, Cabrera M, Yanovitch T

J AAPOS · 2026 Jun · PMID 42173353 · Publisher ↗

BACKGROUND: Racial variations in surgical care are known to exist. This study evaluates time to strabismus surgery among different racial groups by examining demographic and health factors. METHODS: We reviewed pediatric... BACKGROUND: Racial variations in surgical care are known to exist. This study evaluates time to strabismus surgery among different racial groups by examining demographic and health factors. METHODS: We reviewed pediatric strabismus surgery patients' medical records at three academic institutions: Seattle Children's Hospital (2012-2022), Dean McGee Eye Institute (2012-2022), and Duke Eye Center (2013-2021). Patients with complete race classification and no previous strabismus surgeries were included. Demographic, insurance, and medical information were collected. Multivariable Cox regression analysis was performed to evaluate independent associations between race and time from diagnosis or surgical recommendation to surgery. RESULTS: We included 1,216 pediatric patients, of whom 518 (42.6%) were non-White, 698 (57.4%) were White, and 587 (48.3%) were male. Mean patient age was 4.7 ± 3.8 years. Median time from diagnosis to surgery was longer for non-White compared to White patients (P = 0.002). Asian and Hispanic patients, and those of race specified as "Other," had longer time from diagnosis to surgery than White patients (median [95% CI] = 306 [230-430], 359 [299-582], 373.5 [225-537], resp. [P = 0.002]); there was a statistically significant association with race after adjusting for strabismus type and insurance type (P = 0.006), with hazard ratio (HR) 95% confidence interval of ≤1 for Asian, Hispanic, and Other race (HR = 0.75, 0.77, and 0.68, resp.). Multiracial patients and Native American / Native Alaskan patients had longer median times from recommendation to surgery than White patients (median [95% CI] = 79.5 [63-98], 81 [64-125], resp. [P = 0.0019]); there was a borderline significant association with race after adjusting for strabismus type and insurance type (P = 0.048), with HR 95% confidence interval of ≤1 for multiracial and Native American / Native Alaskan patients (HR = 0.72 and 0.82, resp.). CONCLUSIONS: We found variation in time from diagnosis to strabismus surgery among pediatric patients. Non-White patients, specifically Asian, Hispanic, and Other, experienced longer time from diagnosis to surgery than White patients. Non-White racial groups, specifically multiracial and Native American / Native Alaskan, experienced longer time from recommendation to surgery compared with their White counterparts.

Prevalence and incidence of mental health disorders in patients with inherited retinal diseases: a population-based study.

Yuan M, Alsoudi A, Nangia P … +6 more , Guo L, Al-Moujahed A, Ludwig CA, Wai KM, Mruthyunjaya P, Rahimy E

J AAPOS · 2026 Jun · PMID 42167533 · Publisher ↗

PURPOSE: To characterize the prevalence and incidence of mental health disorders in pediatric patients with inherited retinal diseases (IRDs). METHODS: This retrospective cohort study utilized the TriNetX research networ... PURPOSE: To characterize the prevalence and incidence of mental health disorders in pediatric patients with inherited retinal diseases (IRDs). METHODS: This retrospective cohort study utilized the TriNetX research network to identify, using ICD-10 codes for retinal dystrophies, 74,317 unique IRD patients (16% pediatric) between January 2016 and December 2024 with at least 6 months' follow-up after diagnosis. RESULTS: Anxiety disorders were most prevalent (24.6%). In pediatric patients, anxiety disorders affected 15.3%, and major depression affected 7.7%. Mental health burden increased progressively during adolescence, with anxiety rising from 8.2% in early childhood to 21.4% in late adolescence. Among pediatric patients, Black children demonstrated 2.5-fold higher rates of mental health disorders compared with White children (38.4% vs 15.2%). CONCLUSIONS: This large-scale analysis of mental health in IRDs provides the first population-based characterization of the mental health burden across the IRD spectrum, including in pediatric patients. These findings underscore the need for integrating standardized mental health screening protocols into routine IRD management.

Surgical effects of unilateral medial rectus plication for small-angle convergence insufficiency-type exotropia.

Kuga S, Goseki T, Iida K … +4 more , Fukaya K, Aoki T, Ariga C, Onouchi H

J AAPOS · 2026 Jun · PMID 42162813 · Publisher ↗

PURPOSE: To report the outcomes of patients who underwent unilateral medial rectus plication to treat small-angle convergence insufficiency-type exotropia, a condition characterized by greater exodeviation at near than a... PURPOSE: To report the outcomes of patients who underwent unilateral medial rectus plication to treat small-angle convergence insufficiency-type exotropia, a condition characterized by greater exodeviation at near than at distance. METHODS: The medical records of patients operated on at a single institution between May 2020 and November 2023 were reviewed retrospectively. Angle data were collected at multiple pre- and postoperative time points. Distance and near angles were compared at three time points: preoperatively, 1-2 weeks postoperatively, and final visit. RESULTS: Ten patients (2 males; mean age, 52.5 ± 22 years.) were included. Postoperative angles reduced significantly at both distance and near (preoperative, -7.8 ± 4.2 and -21.9 ± 6.5; 1-2 weeks postoperatively, +4.0 ± 6.0 and -4.0 ± 6.6; final visit, -2.8 ± 3.4 and -13.4 ± 6.5, for distance and near, resp.; both P < 0.05 vs preoperative). Although some regression was observed compared to 1-2 weeks postoperatively, final exotropia was reduced compared to preoperative levels. Temporary overcorrection was observed in 5 cases, with plication suture removal required in one of them. Ultimately, the overcorrection resolved, and orthophoria was maintained. CONCLUSIONS: Medial rectus plication improved ocular alignment in this small cohort of patients with small-angle convergence insufficiency-type exotropia. Its reversibility and lower risk profile compared with traditional approaches underscore its potential as a treatment option.

Access to pediatric eye care among Medicaid-insured children in North Carolina.

Cheung NL, Liu EJ, Freedman SF

J AAPOS · 2026 Jun · PMID 42144069 · Publisher ↗

BACKGROUND: Individuals with Medicaid/Children's Health Insurance Program (CHIP) in North Carolina face significant barriers to accessing eye care, including limited provider participation and long wait times. The purpos... BACKGROUND: Individuals with Medicaid/Children's Health Insurance Program (CHIP) in North Carolina face significant barriers to accessing eye care, including limited provider participation and long wait times. The purpose of this study was to investigate the availability of pediatric eye care services and participation in Medicaid among ophthalmology (MD) and optometry (OD) practices in North Carolina. METHODS: A cross-sectional telephone survey was conducted with 368 randomly sampled practices stratified by county population density quartiles. The sampled practices represent 24% of all ophthalmology and optometry practices statewide. Front-desk staff were queried about pediatric service availability, Medicaid participation, and appointment wait times, for a hypothetical routine eye examination. Data were analyzed using χ tests and logistic regression. RESULTS: A total of 368 practices were surveyed, of which 246 completed the survey. Combined MD/OD practices were more likely than MD-only or OD-only practices to accept Medicaid (P < 0.001). Larger practices (>5 providers) were more likely to accept Medicaid (86% vs 64% [P < 0.01]). Of the practices participating in the survey, 44% provided routine eye care to children 0-5 years of age, compared with 84% providing care to children 6-17 years of age (P < 0.0001). Among Medicaid-participating practices, 56% provided routine eye care for children aged 0-5 years, whereas 100% provided routine eye care to children aged 6-17 (P < 0.0001). Medicaid patients faced median appointment wait times of 46 days, compared with 14 days for privately insured patients at non-Medicaid practices (P < 0.001). Of Medicaid-participating practices, 20% did not provide Medicaid-covered spectacles. Low reimbursement (43%), administrative burden (30%), and corporate policies (27%) were cited as key barriers by practices not accepting Medicaid. CONCLUSIONS: Access barriers for Medicaid-insured children in North Carolina are primarily driven by practice-level participation policies, administrative complexity, and reimbursement concerns, with younger children facing disproportionate vulnerability.

Development of cataract after lens-sparing vitrectomy in pediatric eyes and risk factors.

Oral M, Ozdemir Zeydanli E, Ozdemir HB … +2 more , Atalay HT, Ozdek S

J AAPOS · 2026 Jun · PMID 42142872 · Publisher ↗

PURPOSE: To assess the rate and risk factors for cataract formation following lens-sparing vitrectomy (LSV) in pediatric eyes. METHODS: The medical records of patients <18 years of age who underwent LSV for various vitre... PURPOSE: To assess the rate and risk factors for cataract formation following lens-sparing vitrectomy (LSV) in pediatric eyes. METHODS: The medical records of patients <18 years of age who underwent LSV for various vitreoretinal conditions were examined retrospectively. The incidence and timing of postoperative cataract formation, lensectomy rates, and risk factors were assessed. RESULTS: A total of 235 patients (295 eyes) were included. Median age at LSV was 4 months (range, 1-179). Cataract developed in 63 eyes (21.4%), and lensectomy was required in 31 eyes (10.5%) at a median follow-up of 33 months (range, 1-190). The median time to cataract development was 8 months (range, 1-123) after surgery. Cataracts developed in 60% of eyes within the first year, 10% in the second year, and 30% thereafter. Kaplan-Meier analysis showed estimated rates of clear lens and phakia were 87% and 94% at 1 year, and 74% and 77% at 5 years, respectively. Significant predictors of cataract development included lens-fibrovascular membrane-retina apposition (P = 0.001; OR = 3.663), repeat surgeries (P = 0.01; OR = 2.120), and silicone oil tamponade (P = 0.04; OR = 3.154). CONCLUSIONS: Most eyes in our cohort retained lens clarity after LSV. However, cataract formation is a risk in cases with significant lens-fibrovascular membrane-retina apposition, repeat vitreoretinal surgeries, lens trauma, and silicone oil tamponade, necessitating closer follow-up, particularly during the first postoperative year.

Seasonal trends in baseball- and softball-related pediatric orbital fractures.

Siddiqui T, Arredondo P, Villatoro GA … +2 more , Williams KJ, Allen RC

J AAPOS · 2026 Jun · PMID 42142871 · Publisher ↗

PURPOSE: To investigate the seasonality of sports-related orbital fractures in young athletes with particular focus on baseball and softball. METHODS: The medical records of pediatric patients (<18 years of age) treated... PURPOSE: To investigate the seasonality of sports-related orbital fractures in young athletes with particular focus on baseball and softball. METHODS: The medical records of pediatric patients (<18 years of age) treated for sports-related eye injuries at a single tertiary care facility from January 2009 to December 2024 were reviewed retrospectively. Patients with ICD-10 diagnosis codes related to orbital fracture and evaluated by the ophthalmology service were included. Demographics, types of sport, orbital fracture patterns, symptoms, and timing of initial encounter were extracted from the record. Fractures were grouped by conventional seasons of the year with only complete season-years, defined as one fracture in any given month of a season, included in the final analysis. Friedman rank-sum test was used to determine seasonality. Proportions of fracture counts were compared using the t test, with significance set at P < 0.05. RESULTS: Of 573 patients meeting inclusion criteria, 129 (22.5%) had sports-related orbital fractures, of which 110 (85.3%) were related to baseball and softball. Five complete season-years were included in the final seasonal analysis. This cohort demonstrated significant seasonality (P = 0.030) although pairwise comparisons of spring versus other seasons did not reach significance. Spring demonstrated a significantly higher proportion of fractures (43.1%) than expected if fractures were equally distributed at 25% (P = 0.006). CONCLUSIONS: Baseball- and softball-related orbital fractures can be predictable and seasonal as the spring season arrives. Eye care providers can proactively advocate for young athletes to wear appropriate head and eye protection to reduce increased fracture risk.

Objective measurement of tonic and dynamic accommodative behavior in Duane retraction syndrome.

Güven S, Bozoklu M, Arıkan S

J AAPOS · 2026 Jun · PMID 42142870 · Publisher ↗

PURPOSE: To compare accommodative function and ocular biometric parameters between patients with Duane retraction syndrome (DRS) and healthy controls. METHODS: In this age- and sex-matched case-control study, 44 eyes of... PURPOSE: To compare accommodative function and ocular biometric parameters between patients with Duane retraction syndrome (DRS) and healthy controls. METHODS: In this age- and sex-matched case-control study, 44 eyes of 30 DRS patients and 78 eyes of 39 healthy controls underwent comprehensive evaluation. Accommodative amplitude (AA) and pupil dynamics (ΔPD with accommodation) were assessed using the Tonoref III (Nidek), with three consecutive measurements. Biometric parameters (axial length [AL], lens thickness [LT], anterior chamber depth [ACD], central corneal thickness [CCT]) were measured using the Lenstar 900 (Haag-Streit). RESULTS: Patients and controls were comparable in age (P = 0.305), CCT (P = 0.347), ACD (P = 0.597), LT (P = 0.297), and sex distribution (P = 0.709). DRS patients exhibited more hyperopia (mean spherical equivalent refraction -0.02 ± 1 D vs -0.63 ± 1.1 D [P = 0.019]) and shorter AL (22.57 ± 0.8 mm vs 23.1 ± 1 mm [P = 0.010]). AA showed no intergroup differences (P = 0.393), but DRS patients had a more hyperopic refractive state than controls at both the point of minimum accommodation (0.86 ± 1.2 D vs 0.06 ± 1.4 D [P = 0.006]) and the point of maximum accommodation (-1.8 ± 2.4 D vs -3 ± 2.7 D [P = 0.024]). Pupil parameters (minimum and maximum PD, ΔPD) were similar between groups (P > 0.05). CONCLUSIONS: DRS patients demonstrate similar accommodative amplitude to control patients, although in our patient sample they tended to be more hyperopic than age-matched patients presenting for refractive assessment, and to adopt more hyperopic refractive states during assessment of accommodative performance.

Characteristic ocular features of pediatric patients with Loeys-Dietz syndrome.

Alsarhani WK, Alnabulsi R, AlAli A … +5 more , Buncic JR, Vincent A, Mendoza R, O'Connor C, Ali A

J AAPOS · 2026 Jun · PMID 42103274 · Publisher ↗

PURPOSE: To present a comprehensive analysis of ocular features observed in pediatric patients diagnosed with Loeys-Dietz syndrome (LDS). METHODS: This prospective observational study included pediatric patients with a c... PURPOSE: To present a comprehensive analysis of ocular features observed in pediatric patients diagnosed with Loeys-Dietz syndrome (LDS). METHODS: This prospective observational study included pediatric patients with a confirmed diagnosis of LDS who presented to the Eye Clinic at The Hospital for Sick Children, Toronto, Ontario, from January 2016 to September 2024. Comprehensive ophthalmic examinations were performed, including refraction, corneal imaging, and optic nerve evaluation. Genetic testing results were reviewed to correlate ocular findings with pathogenic variants in TGFBR1, TGFBR2, or TGFB2. RESULTS: Seventeen pediatric patients (34 eyes) were included, with a mean age of 10.6 ± 3.8 years (range, 4-17 years). The mean spherical equivalent was +0.79 ± 2.39 D. Retinal vascular tortuosity was observed in 18 patients (53%). The mean central corneal thickness was 511 ± 42 μm. Flat corneal curvature (mean K ≤ 42.00 D) was present in 21 eyes (66%). Supernumerary optic disk vessels were noted in 12 eyes (40%), and seven (23%) had an optic disk area >2.50 mm. No lens abnormalities were identified. A single patient had significant myopia (> -1.00 D). No significant associations were found between genetic variants and ocular biometric parameters. CONCLUSIONS: In our small cohort of pediatric patients with LDS, ocular findings included retinal vascular tortuosity, reduced corneal thickness, and optic nerve anomalies. Lenticular abnormalities were absent, and significant myopia was nearly so.

Sequential correction of blepharophimosis syndrome: comparison of anatomical outcomes for surgery before and after 24 months of age.

Yılmaz İE, Doğan S, Doğan L … +2 more , Kara N, Arı Ş

J AAPOS · 2026 Jun · PMID 42092533 · Publisher ↗

PURPOSE: To evaluate the safety and morphometric outcomes of early sequential surgical correction in pediatric patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) with significant functional impairm... PURPOSE: To evaluate the safety and morphometric outcomes of early sequential surgical correction in pediatric patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) with significant functional impairment, comparing patients under and over 24 months of age. METHODS: The medical records of consecutive BPES patients undergoing two-stage treatment of Y-V epicanthoplasty followed by silicone frontalis suspension from 2019 to 2021 were retrospectively analyzed. Primary outcomes included morphometric parameters: ratio of inner intercanthal distance (IICD) to horizontal palpebral fissure length (HPFL), margin reflex distance-1 (MRD1), and vertical palpebral fissure length (VPFL). Secondary outcomes were visual axis clearance, compensatory posture resolution, and complications. Statistical analysis employed repeated measures ANOVA with Bonferroni correction. RESULTS: A total of 20 patients were included. Mean age at surgery was 43.4 ± 32.4 months (range, 6-120), with 11 patients (55%) under 24 months. At 6 months' follow-up, all morphometric parameters demonstrated significant improvement (P < 0.001): IICD/HPFL ratio decreased from 1.82 ± 0.23 to 1.13 ± 0.08; VPFL increased from 3.92 ± 0.71 mm to 8.22 ± 0.44 mm; and MRD1 improved from 0.45 ± 0.91 mm to 4.17 ± 0.40 mm. Visual axis clearance and resolution of compensatory chin-up posture were achieved in 100% of cases; surgical success (IICD/HPFL <1.3), in 95% of patients (19/20). Age-stratified analysis revealed no significant differences in outcomes between cohorts (P > 0.05). Grade I complications occurred in 5 patients (25%) and resolved conservatively. CONCLUSIONS: In select infants with severe BPES, early two-stage sequential correction can achieve visual axis clearance and anatomical outcomes comparable to those achieved in older children.

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Derks LA, Campbell JP, Tjiam AM

J AAPOS · 2026 Jun · PMID 42092532 · Publisher ↗

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