Background: Pupillary evaluation is a crucial element of physical exams. Noting size, reactivity, and consensual response is critical in assessing for optic nerve dysfunction. We aim to establish normative data for scotopic pupillary size and function in the pediatric population in a clinical setting. Methods: Pupillometry was obtained prospectively for consecutive, normal patients < 18 years old being evaluated by Lurie Children’s Ophthalmology. Quantitative data included maximum (MAX) and minimum (MIN) diameters, constriction percentage (CON), latency (LAT), average (ACV) and maximum (MCV) constriction velocities, average dilation velocity (ADV), and 75% recovery time (T75). Iris color was noted as light, intermediate, or dark. Results: 196 eyes of 101 participants (42.6% male, ages 1–17 years, average age 10.3 years) were analyzed. Mean MAX was 6.6 mm (5.1–8.1 mm 95% CI); MIN was 4.7 mm (3.1–6.1 mm 95% CI); CON was 30% (17–42 95% CI); LAT was 230 milliseconds (160–300 ms 95% CI); ACV was 3.70 mm/sec (2.21–5.18 mm/sec 95% CI); and ADV was 0.88 mm/sec (0.38–1.38 mm/sec 95% CI). Age had a positive correlation with MAX, MIN, and CON. 84.2 and 95.8% of participants showed resting pupil asymmetry of ≤0.5 mm and ≤ 1.0 mm, respectively. Conclusions: Quantitative pupillometry can be a useful tool for screening pediatric patients. We sought to establish normative data in this group. We found males to have significantly greater MCV and CON than females (p < 0.05). Also, age had a positive correlation with MAX, MIN, and CON.

The diagnostic yield of genetic testing for ocular/oculocutaneous albinism (OA/OCA) in a diverse pediatric population in the United States (U.S.) is unclear. Phenotypes of 53 patients who presented between 2006–2022 with OA/OCA were retrospectively correlated with genetic testing results. Genetic diagnostic yield was defined as detection of pathogenic/likely pathogenic variant(s) matching the anticipated inheritance for that gene–disease relationship. Variant reclassifications of those with variants of uncertain significance (VUS) and without positive diagnostic yield were completed. Overall initial genetic diagnostic yield of OA/OCA was 66%. There was no significant difference (p = 0.59) between race and ethnicities (Black (78%), White (59%), Hispanic/Latino (64%)); however, the diagnostic yield of OA (33%) was significantly lower (p = 0.007) than OCA (76%). Causative variants in OCA2 (28%) and TYR (20%) were most common. Further, Hermansky–Pudlak syndrome variants were identified in 9% of patients. Re-classification of VUS in non-diagnostic cases resulted in genetic diagnoses for 29% of individuals and increased overall diagnostic yield to 70% of all subjects. There is a high diagnostic yield of genetic testing of patients overall with OA/OCA in a diverse U.S. based pediatric population. Presence or absence of cutaneous involvement of albinism significantly affects genetic diagnostic yield.

The aim of this study was to evaluate the diagnostic yield from prior genetic testing in a 20-year cohort of pediatric patients with congenital cataracts. A retrospective review of patients with congenital cataracts who underwent genetic testing was completed from 2003–2022. The diagnostic yield of the test was determined by variant classification and inheritance pattern. Variants from initial testing underwent reclassification in accordance with ACMG-AMP (American College of Medical Genetics and Genomics—American Association of Molecular Pathology) 2015 or 2020 ACMG CNV guidelines. A total of 95 variants were identified in 52 patients with congenital cataracts (42 bilateral, 10 unilateral); 42 % were White, 37% were Hispanic, 8% were Black, and 6% were Asian. The majority of patients (92%) did not have a family history of congenital cataracts but did have systemic illnesses (77%). Whole exome sequencing and targeted congenital cataract panels showed diagnostic yields of 46.2% and 37.5%, respectively. Microarray had the lowest yield at 11%. Compared to the initial classification, 16% (15 of 92 variants) had discrepant reclassifications. More testing is needed, and an increased focus is warranted in the field of ocular genetics on congenital cataracts, particularly in those with systemic illnesses and no family history, to advance our knowledge of this potentially blinding condition.

Background Remote learning during the COVID-19 pandemic caused behavioural changes such as increased screen time and decreased outdoor time. This study aimed to investigate myopia progression in children during the COVID-19 pandemic. Methods This was a retrospective observational study performed among 2064 patients ages 2–17 with cycloplegic refractions in the months of January 2019–March 2021 at a tertiary children’s hospital. Exclusion criteria were a medical history of relevant connective tissue diseases, myopia control treatment, pseudophakia and aphakia. Results The overall cohort (n=2064) had a mean spherical equivalent (SE) of 0.12±3.70 D in 2019, −0.07±3.95 D in 2020 and −0.49±3.85 D in 2021. The change in mean SE (0.42 D) from 2020 to 2021 was 2.2 times greater than the change (0.19 D) from 2019 to 2020 at baseline. In the cohort of return patients, there was a significant difference in myopic shift between years (F-ratio=14.4, p<0.00001), and a significant change from 2020 to 2021 (p=0.00008) but not from 2019 to 2020. When observing the prevalence of myopia grouped by age, 8-year-old and 17-year-old patients had the greatest increase compared with baseline. When grouped by refractive error, low myopia children (−0.5 D to −3.00 D) displayed the greatest change in mean SE 2020–2021. Conclusions There was a substantial increase in myopia progression for children in the Chicagoland area after the period of COVID-19 changes. The behavioural changes of home confinement and online learning during the pandemic may explain these findings.

The MAF gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the MAF variants in the C-terminal DNA-binding domain associated with non-syndromic congenital cataracts and describe a patient with a novel, disease-causing de novo missense variant. Published reports of C-terminal MAF variants and their associated congenital cataracts and ophthalmic findings were reviewed. The patient we present and his biological parents had genetic testing via a targeted gene panel followed by trio-based whole exome sequencing. A 4-year-old patient with a history of bilateral nuclear and cortical cataracts was found to have a novel, likely pathogenic de novo variant in MAF, NM_005360.5:c.922A>G (p.Lys308Glu). No syndromic findings or anterior segment abnormalities were identified. We report the novel missense variant, c.922A>G (p.Lys308Glu), in the C-terminal DNA-binding domain of MAF classified as likely pathogenic and associated with non-syndromic bilateral congenital cataracts.