Journal of Aapos最新文献

Neurofibromatosis type 1 (NF1), a multisystemic autosomal dominant neurocutaneous disorder, presents with diverse ocular and systemic manifestations. It requires a multidisciplinary diagnostic and therapeutic approach. The ocular findings in NF1, such as Lisch nodules and optic pathway gliomas, are well studied and recognized as diagnostic criteria. We report the case of an infant with NF1 who was found on magnetic resonance imaging to have diffuse enlargement of the extraocular muscles.

A 5-year-old girl was referred for bilateral iridodonesis. Clinical evaluation revealed an enlarged horizontal corneal diameter, a markedly deep anterior chamber, diffuse iris transillumination, and bilateral posterior subcapsular cataracts. Gonioscopic examination demonstrated angle dysgenesis with posterior embryotoxon. Ultrasound biomicroscopy confirmed the bilateral anterior segment clinical abnormalities. Axial length was within normal limits. Intraocular pressure remained within normal limits, and there was no evidence of juvenile glaucoma. A diagnosis of anterior megalophthalmos was established. Genetic analysis revealed a pathogenic mutation in the CPAMD8 gene, which is known to be associated with anterior segment dysgenesis. This case supports the mutation of CPAMD8 as a genetic contributor to this rare developmental anomaly.

Purpose: To evaluate the feasibility and performance of AI-assisted portable fundus photography in children with glaucoma.

Methods: This case series describes the use of smartphone-based fundus imaging with integrated offline glaucoma artificial intelligence (AI) in children (≤18 years) with various types of glaucoma who were evaluated at a tertiary eye care center, and comparing AI-derived referral recommendations with presence or absence of structural optic nerve changes determined on clinical evaluation.

Results: AI-assisted fundus photography and clinical evaluation were completed for 21 children. For vertical cup:disk ratio, the 95% limits of agreement between AI image analysis and clinical assessment on Bland-Altman analysis were -0.15 to +0.23. The AI output recommended referral for 7 of 8 children who had structural optic nerve changes on clinical examination and did not recommend referral for any of the children without such optic nerve changes.

Conclusions: AI-assisted smartphone-based fundus imaging may help identify cases of pediatric glaucoma exhibiting structural optic nerve changes.

Epstein-Barr virus (EBV) infection manifests with diverse clinical presentations. Primary EBV infection in children less than 6 years of age typically presents asymptomatically or with nonspecific upper respiratory symptoms. EBV-associated acute dacryocystitis is exceptionally rare. We report the case of a 6-year-old boy with EBV-induced nasolacrimal duct obstruction and secondary acute dacryocystitis successfully managed via endoscopic dacryocystorhinostomy under general anesthesia.

Purpose: To compare the incidence of retinopathy of prematurity (ROP) among preterm infants born to mothers with and without a cannabis use disorder (CUD) diagnosis.

Methods: This retrospective cohort study used the UC San Diego Study of Outcomes in Mothers and Infants (SOMI) population-based database and restricted the sample to infants born between 22 and <31 weeks' gestation, and/or having birth weight of <1500 g, who survived to the appropriate age for ROP screening. Infant ROP and maternal CUD during pregnancy were identified from International Classification of Diseases diagnostic codes from hospital discharge records. Adjusted relative risk (aRR) of ROP was calculated using log-linear regression, comparing mothers with and without CUD while controlling for demographic and clinical factors.

Results: Of the 997 infants born between 22 and <31 weeks to mothers with CUD, 32.1% developed ROP, compared with 33.3% of the 30,1113 infants born to mothers without CUD. Adjusting for covariates, preterm infants born to mothers with CUD were not found to be at higher or lower risk of developing ROP than preterm infants born to mothers without CUD (aRR = 1.0; 95% CI, 0.9-1.1) CONCLUSIONS: In our study cohort, preterm infants born to mothers with CUD did not have an increased or decreased risk of developing ROP compared with those born to mothers without CUD.

Purpose: To assess macular perfusion in a pediatric population with Wilson disease (WD) using optical coherence tomography angiography (OCTA).

Methods: Twenty-six patients diagnosed with WD by conventional laboratory tests and liver biopsy in the pediatric gastroenterology department were enrolled. The superficial (VDs), deep (VDd) and choriocapillary (VDc) vascular densities of the patients were determined, Foveal avascular zones in the superficial (FAZs) and deep (FAZd) layers with central macular thickness (CMT) and subfoveal choroidal thickness (SFCT) were evaluated. OCTA measurements were compared with 35 age- and sex-matched healthy controls.

Results: Inferior sector values of VDs, VDd and VDc were significantly increased (P = 0.001, P = 0.002, P = 0.022, resp.). Mean FAZs and FAZd were significantly higher in WD cases (P = 0.001, P = 0.003). No statistical difference was detected in CMT and SFCT values (P > 0.05). Among patients with WD, the nasal sector values of the VDs, VDd and VDc were significantly correlated with 24-hour urinary copper excretion (r = 0.500, P = 0.009; r = 0.608, P = 0.001; r = 0.563, P = 0.003, resp.) and serum caeruloplasmin (r = 0.428, P = 0.029; r = 0.536, P = 0.005; and r = 0.548, P = 0.004, resp.). There was a statistically significant linear correlation between SFCT and hepatic copper level (r = 0.742 and P = 0.015).

Conclusions: Alterations of the macular microcirculation were observed in children with WD. OCTA may offer a noninvasive method to evaluate patients with WD when other classic signs may not yet have been presented.

Purpose: To compare the severity of corneal disease and complications associated with pediatric blepharokeratoconjunctivitis (PBKC) as well as barriers to care in Hispanic and non-Hispanic children.

Methods: The medical records of all children <18 years of age who met broadened PBKC spectrum criteria at Children's Hospital Colorado between 2019 and 2024 were reviewed retrospectively. Patients self-reported as Hispanic or non-Hispanic ethnicity. Data were collected on patient demographics, corneal disease severity, and adverse outcomes associated with PBKC at the time of diagnosis and worst stage during their care.

Results: A total of 405 records were reviewed. Of these, 175 children with PBKC were included, with 116 (66.3%) identifying as Hispanic, 52 (29.7%) as non-Hispanic, and 7 (4.0%) with unknown or unreported ethnicity. Hispanic children were more likely to have moderate and severe corneal disease at their worst stage than non-Hispanic children (P = 0.0002). A higher proportion of Hispanic children required interpreter services (P = 0.0002), lacked private insurance (P = 0.0008), and resided in areas with lower median incomes (P = 0.004) and overall childhood opportunity indices (P < 0.0001). Multivariable analysis showed moderate and severe corneal disease at the worst stage was associated only with Hispanic ethnicity (OR = 3.31; 95% CI, 1.53-7.14; P = 0.002).

Conclusions: In our patient cohort, Hispanic children are more frequently affected by PBKC, with worse corneal disease, in addition to, and independent of, experiencing differing social determinants of health compared with non-Hispanic children.

Purpose: To identify factors associated with variation in strabismus surgery charges at hospital-owned facilities across the United States.

Methods: This cross-sectional study included all strabismus-related patient encounters in the National Ambulatory Surgery Sample over a 5-year period (January 2016 to December 2020). The primary outcome was total charge per encounter. Multivariable linear regression was used to estimate the association of charge per encounter with patient, hospital, and regional characteristics, adjusting for procedure complexity and inflation. Sampling weights were used to generate nationally representative estimates and appropriate standard errors.

Results: We included 154,005 patient encounters. Most surgeries were performed on pediatric patients (69.9%) and at teaching facilities (91.8%). The median charge per encounter was $12,889 (Interquartile range, $8,840 to $17,573). Compared with the Midwest, charges were higher in the Northeast by 20.0% (95% CI, 8.4%, 32.9%; P = 0.0004) and South by 15.9% (95% CI, 4.8%-28.1%; P = 0.004). Nonteaching hospitals had 35.0% higher charges (95% CI, 17.6%-55.0%; P < 0.0001) compared with teaching hospitals. Rural hospitals had 26.6% (95% CI, 19.4%-33.1%; P < 0.0001) lower charges compared to urban hospitals. Patients residing in ZIP codes within the lowest income quartile had on average 6.8% (95% CI, 1.8%-12.2%; P = 0.008) higher charges than those in the highest income quartile.

Conclusions: Our findings highlight substantial variation nationwide in charges for strabismus surgeries, raising important questions about how these differences may influence subspecialty geographic distribution of care and affect treatment access for patients with strabismus.

Purpose: To explore associations between sociodemographic determinants and whether children received an eye examination within the previous year in the United States.

Methods: Using data from the 2022 National Health Interview Survey, this population-based study included participants <18 years of age for whom data were available to determine whether they had received an eye examination within the previous year. Multivariable logistic regression analyses were performed to explore associations between sociodemographic variables and caregiver-reported eye examinations.

Results: Of the 7,365 children included (mean age, 8.8 ± 6.3 years), 2,912 (39.5%) underwent an eye examination. In a multivariable model, children in all age groups older than 4 years (OR ranging from 4.16 to 6.91) and children of parents with a higher educational attainment (OR ranging from 1.44 to 1.52) were more likely to have had an eye examination compared with the youngest age group and lowest educational attainment group, respectively. Lack of health insurance coverage (OR = 0.58; 95% CI, 0.40-0.83; P = 0.003) and forgoing medical care due to cost (OR = 0.42; 95% CI, 0.21-0.87; P = 0.019) were both associated with lower odds of having had an eye examination. However, children living with a parent who was neither married nor living with a partner had higher odds of receiving an eye examination than those whose caregivers were married or living with a partner (OR = 1.27; 95% CI, 1.07-1.51; P = 0.006).

Conclusions: Having undergone a pediatric eye examination was associated with age, parental education, parental relationship status, insurance coverage, and the ability to afford medical care. Inequities prevail across the United States with respect to pediatric eye examination access, and ongoing public health initiatives are needed to proactively advocate for equitable access to eye care.