Introduction:Early childhood vision screening is critical for detecting amblyopia and other vision-threatening conditions. Despite screening recommendations during well-child visits, rates remain low. Red reflex assessment is recommended to identify serious ocular pathology, yet its use in primary care is not well described. We examined rates and drivers of vision screening in pediatric primary care. Methods:We conducted a retrospective review of electronic health records for children 3-5 years attending well-child visits in 2022 in one of three representative primary care clinics within a university health system. Outcomes were documented red reflex and functional vision tests. We evaluated associations with patient demographics and clinic site using multivariable logistic regression. Results:Among 1,003 visits, 21.1% (n=212) had a documented red reflex assessment, and 60.8% (n=610) a functional vision test. Younger children (ages 3 and 4 vs. 5 years) had higher odds of red reflex assessment [adjusted odds ratio (aOR) 9.00 and 8.64], and lower odds of a functional vision (aOR 0.47 and 0.59) test. Females had higher odds of red reflex assessment (aOR 1.53). Other/Multiracial children had lower odds of red reflex assessment than Non-Hispanic White children (aOR 0.48). Screening rates varied significantly by clinic site. Conclusions:Visual function and red reflex assessment are inconsistently performed in pediatric primary care, with particularly low rates of red reflex documentation. Screening rates varied between clinics and were affected by age. These findings highlight missed opportunities for early detection of vision-threatening conditions and identify targets for improving adherence to pediatric vision screening recommendations.
PURPOSE. Infantile nystagmus syndrome (INS), the most prevalent form of nystagmus in children, often indicates underlying ocular and neurological conditions. Genetic assessment plays a crucial role in clinical management, genetic counseling, and access to emerging gene-based therapies. This study aims to characterize the clinical and genetic landscape of inherited ocular diseases (IODs) in children with INS. METHODS. We retrospectively analyzed clinical and genetic data from 205 unrelated pediatric patients with INS enrolled in an IRB-approved nystagmus registry (2010-2024). All underwent next-generation sequencing (NGS) with targeted gene panels to detect pathogenic variants. RESULTS. The cohort comprised 117 males and 88 females (mean [SD] age, 8.85 [10.37] years). The most common INS-associated IODs included albinism (32%), Leber congenital amaurosis (LCA) (14%), and achromatopsia (14%). Genetic testing achieved a definitive diagnosis in 85 of 205 patients, yielding a molecular diagnostic rate of 41.5%. A total of 83 pathogenic and likely pathogenic variants were identified across 30 genes. The seven most frequently disease-causing genes-TYR, CNGB3, RPGR, GPR143, ABCA4, OCA2 and FRMD7-accounted for 65% of the genetically solved cases. Additionally, eight genes associated with LCA (AIPL1, CABP4, GUCY2D, IMPDH1, NMNAT1, RDH12, PRPH2, and RPGRIP1) contributed to 15% of these cases. CONCLUSIONS. This study underscores the utility of NGS in diagnosing INS-associated IODs, providing essential insights for targeted interventions and identifying patients as candidates potentially eligible for ongoing gene-based therapy clinical trials.
Parts of material previously presented at Annual Meetings of the Association for Research in Vision and Ophthalmology and the American Association of Pediatric Ophthalmology and Strabismus. Trial Registration: ClinicalTrials.gov Identifier: NCT00212134.
Parts of material previously presented at Annual Meetings of the Association for Research in Vision and Ophthalmology and the American Association of Pediatric Ophthalmology and Strabismus. Trial Registration: ClinicalTrials.gov Identifier: NCT00212134.
BACKGROUND:Vision screening as part of well-child visits is recommended annually for US children 3 to 6 years. However, 63% of children do not get a vision screening in well-child visits. The Patient-Centered Medical Home (PCMH) improves the receipt of preventive care visits in other medical specialties but it is unknown if it improves receipt of vision screening. The objective of this study is to determine whether caregiver-reported receipt of care in a PCMH is associated with receiving a vision screening test in a well-child visit for children 3 to 6 years in a pediatrician/general doctor's office ('primary care'). METHOD:Population-based data for US children aged 3 to 6 years was derived from the National Survey of Children's Health (2018-2019). Children were excluded if they did not have a well-child visit in the previous 12 months. The primary exposure was receipt of care in a PCMH ('PCMH care'), and the primary outcome was receipt of a vision screening in primary care. Adjusted odds ratios (aOR) and predicted probabilities were computed for children with and without PCMH care. RESULTS:Among 9,587 children with well-child visits, 4,984 (50.9%) were males. There were 1,107 (23.3%) Hispanic, 6704 (52.8%) White/Non-Hispanic and 545 (11.8%) Black/Non-Hispanic children. There were 5,482 (51.8%) children who received PCMH care. Of those with PCMH care, 2,629 (52.2%) received a vision screening in primary care. Those with PCMH care (52.2%) had a higher odds of receiving a vision screening (aOR, 1.31; 95% CI 1.11, 1.55) in primary care compared to children without PCMH care (42.8%). The predicted probability of vision screening in primary care was 50.8% (95% CI 48.2, 53.5) for children that received PCMH care, and 44.3% (95% CI 41.3, 47.3) without PCMH care. CONCLUSIONS:Caregiver-reported receipt of PCMH care was associated with a greater likelihood of vision screening for children 3 to 6 years in a well-child visit. Further studies are needed to understand the mechanisms through which PCMH care contributes to the greater odds of vision screening in primary care to inform the creation of strategic interventions to prevent vision loss and its long-term implications.
PURPOSE:Achieving near normal vision after unilateral congenital cataract (UCC) surgery is possible but requires early surgery, optical correction, and consistent patching. Patching is often challenging for children and their caregivers. The goal of these analyses is to examine the association between reported consistency in patching during the first year after surgery and visual acuity (VA). DESIGN:Data from the Infant Aphakia Treatment Study (IATS) are used in a cohort design. PARTICIPANTS:A total of 101 children whose caregivers completed a prospective, 7-day patching diary 2 months after surgery or at 13 months of age. METHODS:Consistent patching was defined as patching every day and either an average patch start time before 9:00 am or the interquartile range of the first time a patch was applied of 60 minutes or less. MAIN OUTCOME MEASURES:Recognition VA was assessed at ages 54+ 1 months and 10.5 years. Near normal VA was defined as VA of 20/40 or better. RESULTS:Diary data were available for 101 children. Overall, 55% of children whose caregivers reported consistent patching at age 13 months had near normal vision at age 54 + 1 months and 45% had near normal vision at age 10.5 years compared with 14% and 19%, respectively, when caregivers reported less consistent patching (adjusted relative risk at 54 months of age 3.55, 95% confidence interval [CI], 1.61-7.80; adjusted relative risk at 10.5 years of age 2.31, 95% CI, 1.12-4.78). CONCLUSIONS:Consistent patching in the first year after surgery for UCC is associated with better VA. These findings can be used to provide evidence-based guidance to caregivers to help improve VA outcomes for their children. FINANCIAL DISCLOSURE(S):The author(s) have no proprietary or commercial interest in any materials discussed in this article.
PURPOSE:The goal of these analyses is to provide evidence that can help parents and healthcare providers determine whether or not to continue occlusion therapy once a reliable measure of optotype acuity can be obtained in children who are born with a unilateral congenital cataract. DESIGN:Data from the Infant Aphakia Treatment Study (IATS) are used in a cohort design. PARTICIPANTS:A total of 105 children who participated in the IATS and did not have a vision-threatening adverse event. METHODS:We assessed the relationship between visual acuity (VA) at age 10.5 years and average daily hours of patching reported by caregivers on quarterly 48-hour recall interviews and annual 7-day patching diaries obtained between 48 and 60 months of age. MAIN OUTCOME MEASURES:Monocular VA was assessed at the clinic visit closest to 48 months of age using the Amblyopia Treatment Study HOTV protocol. Final VA was measured at age 10.5 years using the electronic ETDRS testing protocol. RESULTS:Visual acuity measurements obtained at age 4 years were reliable, with a single-measure intraclass correlation coefficient of 0.83 (95% confidence interval [CI], 0.78-0.88), and predictive of those obtained at age 10.5 years (rSpearman = 0.83; P < 0.01). In 38% (n = 40) of the children, the VA measured at age 10.5 years was within ±0.10 logarithm of the minimum angle of resolution of the measurement obtained at age 4 years. The amount of patching that was received between the fourth and fifth birthdays was unrelated to changes in VA. CONCLUSIONS:These analyses suggest that optotype acuity measures obtained early in the fifth year of life are reliable and predictive of final visual outcomes. Additionally, our results suggest that less-aggressive patching protocols, or discontinuing patching altogether, may be justified in some children, particularly those with poor vision, once optotype acuity can be measured. However, the potential impact of latent nystagmus on uniocular VA measurement and the effect of patching on the child's quality of life, family relationships, and binocular visual field need to be considered before discontinuing occlusion therapy. FINANCIAL DISCLOSURE(S):Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Importance:Parents may be concerned about the adverse outcomes of occlusion therapy in children treated for unilateral congenital cataract (UCC). Objective:To determine whether occlusion therapy in children treated for UCC with poor visual outcomes is negatively associated with poorer child and/or family functioning. Design, Setting, and Participants:This cohort study was conducted in 2023 using data collected between 2006 and 2016 in the Infant Aphakia Treatment Study (IATS). IATS participants with a visual acuity (VA) of 20/200 or worse were included. Statistical analysis was performed from July 2022 to October 2023. Exposure:Caregivers reported the mean daily minutes of patching during the 12 months prior to the VA assessment at 4.5 years of age. Patching was categorized as minimal (<15 minutes per day), moderate (15 to <120 minutes per day), or extensive (≥120 minutes per day). Main Outcome Measures:At 4.25 and 10.5 years of age, caregivers reported stress associated with the parenting role using the Parenting Stress Index and the Ocular Treatment Index and child behavior problems using the Achenbach Child Behavior Checklist. Motor skills were assessed at age 54 months using the Movement Assessment Battery for Children-Second Edition. Children completed the Harter Self-Perception Profile for Children at age 10.5 years. One-way analysis of variance and χ2 tests were used to compare outcomes by amount of patching. Results:Patching data were available for 47 of 53 children (88.7%) with a VA of 20/200 or worse. Among these 47 children with patching data included in the study, 20 (42.5%) were female, 27 (57.5%) were male, 12 (25.5%) were reported to have been patched fewer than 15 minutes per day, 11 (23.4%) were patched 16 to 119 minutes per day, and 24 (51.1%) were patched at least 120 minutes per day. Parenting stress, child behavior problems, motor functioning, and child self-perception were similar in all groups. For example, after adjusting for gender and insurance status, there was a nonsignificant difference between mean stress scores of 11.0 (95% CI, -4.5 to 26.5) points for parents who reported minimal patching vs parents who reported patching at least 120 minutes per day, and there was no significant difference in children's report of their global self-worth (0.0 [95% CI, -0.4 to 0.3] points). Conclusions and Relevance:Occlusion therapy was not negatively associated with family or child functioning. Although the sample size was limited, these results do not support changes to the current practice guidelines.
Background The American Academy of Pediatrics recommends pediatric vision screening to detect and refer vision disorders during the critical early years when intervention yields the greatest benefits. We determined the rate of vision screening for US children 3-5 years of age with commercial insurance and compared rates among those living in rural versus urban areas. Children in rural compared with urban areas were expected to have lower rates of vision screening. Methods A cross-sectional study using commercial claims for 3- to 5-year-olds derived from the Merative MarketScan Database (IBM, Armonk, NY), 2011-2020, was conducted. Primary outcome was the proportion of children with a claim for vision screening. Adjusted incident rate ratios (aIRR) of vision screening with 95% confidence intervals were computed for children living in rural compared with urban areas of the United States. Results Claims for 2,299,631 children were included. Most children (1,724,923 [75.0%]) were enrolled in preferred provider organization plans and lived in urban areas (2,031,473 [88.3%]). A total of 662,619 (28.8%) had a claim for a vision screening. Children living in rural versus urban areas had a lower adjusted incident rate of vision screening (15.1 vs 30.6%, aIRR 0.57; 95% CI, 0.53- 0.61) after adjusting for sex, age, region, and insurance type. Conclusions For preschool age children with commercial insurance, vision screening is low, especially in rural compared with urban areas.
PURPOSE:Vision screening and regular eye care can help detect and treat potentially irreversible vision impairment. This study aims to investigate the associations between sociodemographic and health characteristics and the receipt of eye care among children aged 17 years and younger in the United States. DESIGN:This cross-sectional study used data from the National Survey of Children's Health (NSCH), a nationally representative and population-based survey of randomly sampled households. PARTICIPANTS:Participants were children aged 0 to 17 years, residing in all 50 states and the District of Columbia, whose caregivers or parents answered an address-based survey by mail or online. METHODS:Weighted prevalence calculations were applied to analyze the data, and logistic regression was performed to explore associations between reported eye care and demographic, health, and parent-related variables. MAIN OUTCOME MEASURES:Caregiver-reported vision screenings, referral to an eye doctor after vision screening, eye doctor visits, and prescription of corrective lenses. RESULTS:Caregivers reported that 53.2% of children had a vision screening at least once (if child ≤ 5 years) or within the past 2 years (if child > 5 years). Of those screened, 26.9% were referred to an eye doctor. Overall, 38.6% of all children had a previous eye doctor visit, and among them, 55.4% were prescribed corrective lenses during the visit. Factors associated with decreased odds of vision screening included younger age, lack of health care visits, no insurance coverage, parent education high school or less, and lower household income. Non-White ethnicities, households with a non-English primary language, and lower incomes were more likely to be referred to an eye doctor after vision screening. Lower rates of eye doctor visits were associated with younger age, lack of insurance coverage, and primary household languages other than English. CONCLUSIONS:Children from disadvantaged backgrounds are less likely to receive vision screening and eye care. Targeted strategies are needed to increase vision screening and access to eye care services in these vulnerable groups. FINANCIAL DISCLOSURE(S):Proprietary or commercial disclosure may be found after the references.
Pediatric vision screening during well child checks is an integral part of determining a child's amblyopia risk. The screens are time consuming and technically difficult to perform, particularly for children ages 3-5, which can lead to a high rate of children who fail to receive a timely screen. We aim to compare the rate of successful vision screens performed with the SPOT instrument-based vision screener to traditional optotype-based visual acuity assessment. The rate of ophthalmology referral will also be evaluated.
Infants born with a unilateral congenital cataract (UCC) are frequently unable to perceive depth based on binocular cues because of the patching regimen employed to ensure optimal vision in the treated eye, as well as the disparity in acuity between their eyes. At the 4½ year visual assessment approximately 25% of the IATS patients demonstrated some level of binocular functioning. We determined that retesting stereopsis at age 10½ years would provide valuable information.