Familial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report.

In this case report, we aim to illustrate a presentation of familial exudative vitreoretinopathy (FEVR) that closely resembles incontinentia pigmenti (IP) and the role of genetic testing that is of no cost to the patient in providing the correct diagnosis. We present a case of an 11-year-old female-to-male transgender patient with a history of hypodontia and skin hypopigmentation who was incidentally found to have a retinal lesion on ultra-widefield fundus imaging during routine screening. Ultra-widefield fluorescein angiography confirmed bilateral peripheral ischemic retinopathy that was successfully treated with laser. The patient was presumed to have IP; however, genetic testing was negative. Due to cost, further genetic testing was declined by the family, and the patient had no further ocular complaints. At age 16, genetic testing became available to the patient, and the patient was found to have FEVR with LRP5 mutation. The patient began screening for comorbidities associated with LRP5 mutation. This case highlights how the ophthalmologic findings of FEVR can present identically to those of IP, and genetic testing is an invaluable tool in distinguishing between these two pathologies. Correct diagnosis of FEVR is vital in assessing other comorbidities of the disease, including osteoporosis. Furthermore, increased use of ultra-widefield fundus imaging in routine eye screening may be of great benefit for community screening of retinal disease, and ultra-widefield fluorescein angiography is of significant use in the diagnosis of FEVR.

Neurodevelopmental Outcomes in Infants Screened for Retinopathy of Prematurity.

Importance: Preterm infants screened for retinopathy of prematurity (ROP) are at risk for heterogenous neurodevelopment outcomes that are difficult to predict. Objective: To characterize the potential association between socioeconomic and clinical risk factors and neurodevelopmental outcomes in a diverse, multicenter cohort of premature neonates screened for ROP. Design, Setting, and Participants: This was a retrospective cohort study using electronic medical records and US Census Bureau income data. This study was performed at academic (University of California, Los Angeles [UCLA] Mattel Children's Hospital and UCLA Santa Monica Hospital), community (Cedars-Sinai Medical Center), and LA county (Harbor-UCLA Medical Center) neonatal intensive care units. Participants included infants who met American Academy of Pediatrics guidelines for ROP screening and had records from at least 1 Bayley Scales of Infant and Toddler Development (BSID) neurodevelopment assessment between 0 and 36 months of adjusted age. Data analyses were conducted from January 1, 2011, to September 1, 2022. Exposures: Demographic and clinical information, proxy household income, and health insurance type were collected as risk factors. Main Outcomes and Measures: Neurodevelopmental outcomes in the cognitive, language, and motor domains measured via BSID were the primary outcomes. Results: A total of 706 infants (mean [SD] age, 28.6 [2.4] weeks; 375 male [53.1%]) met inclusion criteria. In a multivariable model, which included adjustments for birth weight, sex, insurance type, intraventricular hemorrhage (IVH), and age at assessment, public health insurance was associated with a 4-fold increased risk of moderate to severe neurodevelopmental impairment (NDI) in cognitive and language domains (cognitive, odds ratio [OR], 3.65; 95% CI, 2.28-5.86; P = 8.1 × 10-8; language, OR, 3.96; 95% CI, 2.61-6.02; P = 1.0 × 10-10) and a 3-fold increased risk in the motor domain (motor, OR, 2.60; 95% CI, 1.59-4.24; P = 1.4 × 10-4). In this adjusted model, clinical factors that were associated with an increased risk of moderate to severe NDI included lower birth weight, diagnosis of IVH, male sex, and older age at time of Bayley assessment. In unadjusted analyses, infants who received either laser or anti-VEGF treatment, compared with infants without treatment-requiring ROP, had lower BSID scores in multiple domains at 0 to 12 months, 12 to 24 months, and 24 to 36 months (DATA). In the multivariable model, treatment type was no longer associated with worse neurodevelopmental outcomes in any domain. Conclusions and Relevance: Study results suggest an association between public insurance type and NDI in a diverse population screened for ROP, indicating the complexities of neurodevelopment. This study also supports the early neurodevelopmental safety of anti-VEGF treatment, as anti-VEGF therapy was not found to be independently associated with worse NDI in any domain.

A MULTICENTER STUDY OF RETINOPATHY OF PREMATURITY FOLLOW-UP ADHERENCE.

PURPOSE: Characterize clinical and socioeconomic factors that impact follow-up to complete retinal vascularization and subsequent pediatric ophthalmology follow-up in neonates with retinopathy of prematurity. METHODS: Medical records of 402 neonates diagnosed with retinopathy of prematurity from neonatal intensive care units at the University of California, Los Angeles Mattel Children's Hospital and the University of California, Los Angeles Santa Monica Hospital, both academic medical centers, and the Harbor-University of California, Los Angeles Medical Center, a safety-net county hospital, were reviewed. Primary study outcomes were the rate of follow-up to complete retinal vascularization and adequate pediatric ophthalmology follow-up. Secondary outcome was the rate of nonretinal ocular comorbidity. RESULTS: In whole-cohort analysis, 93.6% of neonates were followed to complete retinal vascularization, and 53.5% had adequate pediatric ophthalmology follow-up. Public insurance was associated with lower rates of pediatric ophthalmology follow-up (Odds ratio 0.66, 95% confidence interval 0.45-0.98, P = 0.04). Participants screened at the academic medical center had lower rates of pediatric ophthalmology follow-up compared with the safety-net county hospital (50.7% vs. 63.5%, P = 0.034). In subgroup analysis, academic medical center participants with public insurance were less likely to have pediatric ophthalmology follow-up than safety-net county hospital participants with public insurance (36.5% vs. 63.8%, P < 0.001) or those with private insurance at the academic medical center (36.5% vs. 59.2%, P< 0.001). CONCLUSION: This study identified high follow-up rates to complete retinal vascularization, lower pediatric ophthalmology follow-up rates, and nonretinal ocular comorbidity at all hospitals. Insurance status relative to hospital type was identified as a risk factor for loss to follow-up. This demonstrates a need to further study health care disparities in retinopathy of prematurity infants.

Association Between Social Determinants of Health and Retinopathy of Prematurity Outcomes.

Importance: Previous studies suggest that race or ethnicity may be associated with risk for developing retinopathy of prematurity (ROP). Little is known about how socioeconomic factors mediate the relationship between race or ethnicity and ROP outcomes. Objective: To evaluate how socioeconomic factors, in the context of race and ethnicity, are associated with ROP outcomes. Design, Setting, and Participants: This retrospective cohort study used US Census Bureau income data and electronic medical records from neonatal intensive care units at 4 hospitals, UCLA Mattel Children's Hospital, UCLA Santa Monica Hospital, Cedars-Sinai Medical Center, and Harbor-UCLA Medical Center. Eligible participants included neonates born at a gestational age (GA) of 30 weeks or less, birth weight less than 1500 g, or a GA at birth greater than 30 weeks but with an unstable clinical course. Participants were screened for ROP between January 1, 2010, and December 31, 2020. Exposures: Race and ethnicity data, GA, demographic and clinical information, proxy household income, and health insurance status were collected as risk factors. Main Outcomes and Measures: Diagnosis and severity of ROP were the main study outcomes. Severity was determined according to a classification system developed by the Early Treatment for Retinopathy of Prematurity Cooperative Group. Results: In a crude model, Hispanic neonates were more likely to be diagnosed with ROP (OR, 1.70; 95% CI, 1.20-2.42) and had more severe ROP (OR, 2.24; 95% CI, 1.21-4.15) compared with non-Hispanic White neonates; these associations were no longer found when adjusting for GA and socioeconomic factors (OR, 1.12; 95% CI, 0.68-1.82, and OR, 1.67; 95% CI, 0.80-3.52, for ROP diagnosis and severity, respectively). In a fully adjusted model, lower GA was the primary predictor of ROP incidence (OR, 0.52; 95% CI, 0.48-0.57; P < .001), and higher median household income was associated with higher GA (OR, 0.26; 95% CI, 0.09-0.43; P = .002). Conclusions and Relevance: In this cohort study, GA was the primary driver of disparities in ROP outcomes in a heterogeneous population of neonates in Los Angeles, California. When examined in the context of socioeconomic factors, GA did not differ between racial and ethnic groups. Studies of disparities associated with race and ethnicity should consider these constructs in conjunction with other sociodemographic factors and social determinants of health.