Familial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing.

INTRODUCTION: Familial Exudative Vitreoretinopathy (FEVR) is a heritable retinal vascular disease characterized by incomplete vascularization of the peripheral retina resulting in ischemia. Fifty percent of FEVR cases 10 are due to known pathogenic genetic variants, and disease phenotype can vary greatly. FEVR is a clinical diagnosis, however, genetic testing can play a key role in screening for FEVR in genetically susceptible populations, thus leading to early treatment and improved patient outcomes. CASE: A 2-year-old male with no known past ocular or medical history was diagnosed with FEVR upon examination under anesthesia and multimodal retinal imaging. Genetic testing identified a Jagged 1 (JAG1) variant of uncertain significance, 15 which has been linked to FEVR in recent studies. Despite close follow-up and treatment, the patient experienced a funnel retinal detachment in the right eye approximately one year after diagnosis. DISCUSSION: This case in conjunction with recent literature suggests that JAG1 variants are likely associated with FEVR. Further investigations are necessary to identify the frequency of JAG1 variants among patients with FEVR. Robust understanding of FEVR's heterogenous genetic profile will lead to improved treatment modalities 20 and patient outcomes.

Female Representation in Pediatric Ophthalmology at the American Academy of Ophthalmology Annual Meeting From 2018 to 2022.

PURPOSE: To identify trends in female pediatric ophthalmologist authorship and representation at the American Academy of Ophthalmology (AAO) Annual Meeting from 2018 to 2022. METHODS: Participant data from 2018 to 2022 were collected from the AAO website, organized by conference activity (papers, posters, instruction courses, videos, symposia, subspecialty day, and awards), and analyzed by sex using an online tool. Chi-squared and odds ratio analyses were performed to determine trends in authorship sex and associations between the sex of paper and poster authors in each category. RESULTS: Of 923 pediatric ophthalmology presentations from 2018 to 2022, 46.2% (426 of 923) of presenters and 46.6% (281 of 603) of unique individual participants were women. Overall, 48% (174 of 362) of first and senior authors of papers and posters were women. No significant difference or association between female first and senior authors was observed (52% vs 44%, P = .14; odds ratio 1.59, P = .13). There was no significant change in the proportion of total female presenters from 2018 to 2019 (-3.09%, P = .53), 2019 to 2020 (0.76%, P = .88), 2020 to 2021 (9.09%, P = .09), 2021 to 2022 (-5.68%, P = .30), or 2018 to 2022 (1.08%, P = .84). CONCLUSIONS: Since 2018, female representation at the AAO Annual Meeting has remained consistent and nears 50%. The lack of a significant difference between the proportion of female first and senior authors suggests that junior female pediatric ophthalmologists are climbing the ranks and more broadly engaging in mentorship roles. Considering the increasing proportion of female pediatric ophthalmologists, the absence of corollary, statistically significant increases in female participation may be of concern. [J Pediatr Ophthalmol Strabismus. 2024;61(1):6-13.].

Access to Pediatric Ophthalmological Care by Geographic Distribution and US Population Demographic Characteristics in 2022.

Importance: The geographic distribution of pediatric ophthalmological care has not been reported on since 2007; understanding this distribution could shed light on potential avenues to increase access, which is a necessary first step in addressing the pediatric ophthalmological needs of underserved areas. Objective: To analyze the number and location (ie, geographic distribution) of pediatric ophthalmologists in relation to US population demographic characteristics. Design, Setting, and Participants: In this cross-sectional study, public databases from the American Academy of Ophthalmology and American Association for Pediatric Ophthalmology and Strabismus were used to identify pediatric ophthalmologists in the US as of March 2022. Main Outcomes and Measures: Geographic distribution of pediatric ophthalmologists listed in public databases and any association between pediatric ophthalmologist distribution and US population demographic characteristics. Addresses were geocoded using ArcGIS Pro (Esri). Results: A total of 1056 pediatric ophthalmologists (611 men [57.9%]) were identified. States with the most pediatric ophthalmologists were California (n = 116 [11.0%]), New York (n = 97 [9.2%]), Florida (n = 69 [6.5%]), and Texas (n = 62 [5.9%]), the 4 most populous states. A total of 2828 of 3142 counties (90.0%) and 4 of 50 states (8.0%) had 0 pediatric ophthalmologists. In 314 counties (10.0%) with 1 or more pediatric ophthalmologists, the mean (range) pediatric ophthalmologists per million persons was 7.7 (0.4-185.5). The range of practitioner to million persons has increased since 2007. Counties with 1 or more pediatric ophthalmologists had a higher median (SD) household income compared with counties with 0 pediatric ophthalmologists ($70 230.59 [$18 945.05] vs $53 263.62 [$12 786.07]; difference, -$16 966.97; 95% CI, -$18 544.57 to -$14 389.37; P < .001). Additionally, the proportion of families in each county without internet service (8.0% vs 4.7%; difference, 3.4%; 95% CI, 3.0%-3.7%; P < .001), the proportion of persons younger than 19 years without health insurance (5.7% vs 4.1%; difference, 1.6%; 95% CI, 1.1%-2.2%; P < .001), and the proportion of households without vehicle access (2.1% vs 1.8%; difference, 0.3%; 95% CI, 0.6%-5.2%; P = .001) were greater in counties with 0 compared with counties with 1 or more pediatric ophthalmologists. Conclusion and Relevance: This cross-sectional study found that disparities in access to pediatric ophthalmological care have increased over the past 15 years and are associated with lower socioeconomic status. As patients may rely on online sources to identify the nearest pediatric ophthalmologist, accurate publicly available databases are important.