PURPOSE:To determine whether videos designed to be educational and entertaining ("edutainment") may enhance trainees' clinical knowledge and interest in the field of pediatric ophthalmology and strabismus (PO&S). METHODS:Medical students and residents from six US academic institutions watched edutainment videos related to PO&S within one week of starting their ophthalmology exposure. Questionnaires were administered to each participant before and after watching the videos to assess knowledge and experience with the videos. RESULTS:A total of 52 participants completed both the pre- and post-video questionnaires, of whom 44 (85%) were medical students; 8 (15%) were residents. For medical student respondents, the mean pre-video test score was 44.2% ± 12.3%; post-video, 74.1% ± 14.1%. For resident respondents, the mean pre-video test score was 75.8% ± 9.4%; post-video, 95.8% ± 5.0. All 52 respondents felt the videos enhanced their understanding of strabismus; 46 (89%) felt the videos helped them feel more comfortable with examining pediatric patients in ophthalmology clinic. Most respondents (45/52 [87%]) indicated that they were likely or very likely to review study material presented in video form compared to material presented in other formats, such as book chapters, journal articles, and lectures. Overall, 30 of 52 (58%) were more interested in the field of PO&S after watching the videos. CONCLUSIONS:Edutainment videos are an effective adjunct to traditional modes of teaching with the potential to enhance trainees' knowledge, confidence, and interest in the field of pediatric ophthalmology and strabismus.

PURPOSE:To evaluate the clinical outcomes and prognostic factors in unilateral Coats disease in the era of anti-VEGF therapy. DESIGN:Global, multicenter, retrospective case series. SUBJECTS:Six hundred fifty-six eyes of 656 subjects with Coats disease were included in this study. Exclusion criteria were Coats disease secondary to retinitis pigmentosa as well as bilateral cases. METHODS:Clinical data from patients with Coats disease were collected from 20 ophthalmic practices around the world. We compared early-stage (stage 1-2) and advanced-stage (stage 3-5) Coats disease in terms of clinical characteristics and treatment modalities. MAIN OUTCOME MEASURES:Functional outcomes include achieving visual acuity (VA) of 0.3 logarithm of the minimum angle of resolution or better and VA improvement or stability. Anatomical failure was defined as the development of phthisis, chronic retinal detachment, massive fibrosis, or the requirement for enucleation. RESULTS:Subjects with early-stage disease were significantly older, with a mean age of 17.4 ± 17.8 years, compared with 7.1 ± 7.1 years in the advanced-stage group (P < 0.001). There was a male predominance in both early and advanced stages (84.7%). Advanced disease was associated with a higher incidence of strabismus (20.2% vs. 6.7%, P < 0.001) and leukocoria (12.3% vs. 3.2%, P < 0.001). More subjects with early-stage disease received laser photocoagulation as monotherapy (44.7% vs. 21.1%, P < 0.001). Additionally, early-stage disease received more sessions of intravitreal anti-VEGF injections as adjunct therapy (4.4 ± 6.2 vs. 2.7 ± 2.1, P = 0.005). Factors associated with poorer functional outcomes included worse presenting VA, advanced disease stage, and the presence of a foveal nodule. Worse presenting VA and advanced disease stage were associated with lower likelihood of anatomical success, whereas combination therapy increased the odds of anatomical success. CONCLUSIONS:Unilateral Coats disease predominantly affects males, regardless of disease stage. Identifying a foveal nodule is crucial for visual prognosis. Laser photocoagulation remains the primary treatment. Although anti-VEGF may prevent enucleation, its role in early-stage disease requires further clarification. FINANCIAL DISCLOSURE(S):Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

PurposeTo determine whether extremely premature infants require screening for retinopathy of prematurity (ROP) if <31 weeks’ postmenstrual age (PMA).MethodsThe medical records of infants born in community hospital settings at <31 weeks’ gestational age (GA) were reviewed retrospectively. Prevalence and progression of ROP in infants born at <24 weeks’ GA were compared with infants born at 24-30 weeks’ GA.ResultsA total of 2,061 records were reviewed: 1,969 infants were born at 24-30 weeks’ GA; 92, at <24 weeks. Infants born <24 weeks’ GA were more likely to develop pre-plus and plus disease or require treatment than infants born 24-30 weeks’ GA (P < 0.0001) and did so earlier (P = 0.0001). Eight infants developed pre-plus or greater ROP <31 weeks’ PMA; 6 were born <24 weeks’ GA. Three infants developed plus disease or required treatment <31 weeks’ PMA, the earliest at 27 and 3/7 weeks.ConclusionsClinicians should consider initiating ROP screening examinations before 31 weeks’ PMA, particularly for infants born <24 weeks’ GA and those with lower birth weights.

Purpose:Current treatments for retinoblastoma facilitate globe salvage but can result in vitreoretinal disorders that may require surgery. There is controversy on surgical approaches in eyes with retinoblastoma. Here, we describe a transcorneal vitrectomy approach that avoids the use of chemotherapy or cryotherapy. Methods:Retrospective chart review was performed on five consecutive patients with regressed retinoblastoma for >12 months (Group D/ct2b) at Children's Hospital Los Angeles who had vitrectomy between November 2022 and December 2023. Results:Five patients underwent eight vitrectomies for various indications including intraocular lens fibrosis, vitreous hemorrhage, cataract, retinal detachment, and silicone oil removal. Mean age at first vitrectomy was 6.2 years (range: 2-9 years); mean time from last retinoblastoma treatment was 50.4 months (range: 20-82 months). Radially oriented corneal incisions were made with the 23-G or 25-G trocar system, and the Versa HD LenZ (Oculus) was used with the RESIGHT (Zeiss) for top-down visualization. Neither chemotherapy nor cryotherapy was used. Wounds were sutured parallel to the limbus with 10-0 polyglactin 910 suture (Vicryl, Ethicon), and a final water rinse was performed to lyse any potential retinoblastoma cells. Surgical objectives were achieved, vision remained stable, and no retinoblastoma spread was noted with a mean follow-up of 7.6 months (range: 3-12 months). Conclusion:This vitrectomy technique for eyes with regressed retinoblastoma permits top-down viewing with the Versa HD LenZ. Radial placement of corneal wounds avoids suturing through the uveal tract, and a postsurgical water rinse lyses any retinoblastoma cells. This approach may obviate the need for chemotherapeutics or cryotherapy.

Introduction The purpose of this study was to assess the validity of using video glasses as part of an asynchronous telemedicine screening protocol for paediatric blepharoptosis. Methods A physician assistant wearing Pivothead SMART Series glasses recorded videos of paediatric patients referred for blepharoptosis in primary, down and upgaze while holding a ruler next to the eyes. An oculoplastic surgeon viewed the stored videos and recorded margin-reflex distance 1 and levator function. Using these measurements, the surgeon determined whether surgical intervention was recommended and, if so, which procedure was recommended. The surgeon recorded the same parameters for each patient based on an in-person examination performed later that day. Videos were reviewed eight months later and the same parameters were recorded. Results Twenty-nine children ( n = 58 eyes) were enrolled. Margin-reflex distance 1 and levator function measurements based on same-day video review agreed with in-person examination 94.8% (intraclass correlation coefficient = 0.82) and 98.3% (intraclass correlation coefficient = 0.96) of the time, respectively. Margin-reflex distance 1 and levator function measurements based on later video review agreed with in-person examination 93.1% (intraclass correlation coefficient = 0.85) and 94.8% (intraclass correlation coefficient = 0.93) of the time, respectively. Agreement in identifying surgical candidates was almost perfect (= = 0.93) for same-day video review and substantial (= = 0.73) for later video review. Sensitivity of identifying surgical patients was 100% for both same-day video review and later video review; though specificity was lower at 94.1% for same-day video review and 76.5% for later video review. Discussion Asynchronous telemedicine encounters employing video glasses are a useful screening modality for identifying surgical paediatric blepharoptosis patients.

PURPOSE:To analyze demographic and ophthalmic data in patients with and without chorioretinal atrophy after voretigene neparvovec-rzyl (VN) to identify possible causes for this phenomenon. DESIGN:Retrospective cohort study with longitudinal follow-up. PARTICIPANTS:A total of 71 eyes of 38 patients aged 2 to 44 years with RPE65-mediated retinal dystrophy treated with VN across 2 large gene therapy centers in the United States and Germany. METHODS:Patients treated with VN who developed atrophy were compared with those who did not. MAIN OUTCOME MEASURES:Gender, age, surgical center, spherical equivalent refraction, best-corrected visual acuity (BCVA), baseline full-field scotopic threshold testing (FST), and posttreatment change in FST. RESULTS:A total of 20 eyes of 12 patients developed atrophy after treatment with VN (28% of all eyes). There was no significant difference in gender, age, surgical center, or spherical equivalent refraction between the atrophy group and the no atrophy group. However, patients between school age and young adulthood were predominantly affected, whereas the youngest and the oldest patients did not develop atrophy. Baseline BCVA was better in patients who developed atrophy than those who did not (P = 0.006). The postoperative improvement in FST at 1 month was significantly higher in the atrophy group than in the no atrophy group (P = 0.0005), and this difference remained statistically significant at 1 year (P = 0.0001). There was no correlation to baseline FST, to inflammation, or to which eye was treated first. CONCLUSIONS:The degree of FST improvement after VN appears to be strongly correlated with the development of VN-related chorioretinal atrophy. This finding raises the possibility that atrophy may develop as a toxic or metabolic sequela of vector-mediated RPE65 expression. In light of the expanding number of retinal gene therapy clinical trials, this complication warrants further study because it may not be limited to VN. FINANCIAL DISCLOSURE(S):Proprietary or commercial disclosure may be found after the references.

Retinoblastomas form in response to biallelic RB1 mutations or MYCN amplification and progress to more aggressive and therapy-resistant phenotypes through accumulation of secondary genomic changes. Progression-related changes include recurrent somatic copy number alterations and typically non-recurrent nucleotide variants, including synonymous and non-coding variants, whose significance has been unclear. To assess synonymous and non-coding variant contributions to recurrently altered processes, we identified altered genes and over-represented variant gene ontologies in 168 exome or whole-genome-sequenced retinoblastomas and 12 tumor-matched cell lines. In addition to initiating RB1 mutations, MYCN amplification, and established retinoblastoma SCNAs, the analyses revealed enrichment of variant genes related to diverse biological processes including histone monoubiquitination, mRNA processing (P) body assembly, and mitotic sister chromatid segregation and cytokinesis. Importantly, inclusion of non-coding and synonymous variants increased the enrichment significance of each over-represented biological process term. To assess the effects of such mutations, we performed functional tests of 3’ UTR variants of PCGF3 (a BCOR-binding component of Polycomb repressive complex I) and CDC14B (a regulator of sister chromatid segregation) and a synonymous variant of DYNC1H1 (a regulator of P-body assembly). PCGF3 and CDC14B 3’ UTR variants impaired gene expression whereas a base-edited DYNC1H1 synonymous variant altered protein structure and stability. Compared to tumors, retinoblastoma cell lines had a partially overlapping variant gene spectrum and enrichment for p53 pathway mutations. These findings reveal potentially important differences in retinoblastoma cell lines and antecedent tumors and implicate synonymous and non-coding variants, along with non-synonymous variants, in retinoblastoma oncogenesis.

We report a series of three young patients (ages: 22 months, 2 years, and 5 years) who developed subretinal deposits at post-operative week one following subretinal voretigene neparvovec-rzyl treatment for RPE65-mediated retinal dystrophy. In the 5-year-old, subretinal deposits were also observed in the inferior periphery of both eyes. All three patients experienced improved visual function with treatment, and both the macular and inferior subretinal deposits have improved or resolved over the follow-up period. These findings may inform the delivery parameters and safety profile of AAV-based gene therapy as the number of retinal gene therapy trials continues to grow.

Supplemental Figure 1, online only: a positive correlation was seen between the age at diagnosis and genomic instability which is defined as the overall size of the copy number variation found in the initial AH samples (p=<0.0001, R2=0.658). For the 3 bilateral patients, only 1 eye was included in the analysis, for a total of 26 eyes.

BACKGROUND AND OBJECTIVE:We report our initial experience with intravitreal bevacizumab-bvzr, a bevacizumab biosimilar approved by the US Food and Drug Administration in 2019 and recently introduced by our institution for off-label ophthalmologic use in children.PATIENTS AND METHODS:This was an Institutional Review Board-approved single-institution retrospective case series of pediatric patients 21 years or younger who received at least one intravitreal injection of biosimilar bevacizumab-bvzr.RESULTS:Twelve eyes of 9 patients were identified as having received intravitreal bevacizumab-bvzr, with a total of 13 injections performed. Indications for injection included retinopathy of prematurity (7/13), choroidal neovascularization (3/13), retinal vein occlusion (2/13), and Coats disease (1/13). Following injection of bevacizumab-bvzr, all patients experienced a positive clinical response. No occurrences of postinjection inflammation, intraocular pressure anomalies, or endophthalmitis were observed with a median follow-up of 18 weeks.CONCLUSION:In the absence of controlled studies, this case series supports the use of intravitreal bevacizumab-bvzr as an anti-vascular endothelial growth factor therapy option, including in the pediatric population and resource-poor settings. [Ophthalmic Surg Lasers Imaging Retina 2023;54:84-88.].

Supplemental Figure 5, online only: Copy Number Alteration (CNA) profiles from Case 11, 21, and 25 demonstrating change in amplitude of the alterations in longitudinal AH samples taken over time. Case 11 showed a progressive gain of 6p and was eventually enucleated whereas Cases 21 and 25 showed a decrease in the amplitude of alterations and these eyes were salvaged.

Supplemental Figure 4, online only: Initial Copy Number Alteration (CNA) profile from eyes that were successfully salvaged with treatment

Supplemental Figure 2, online only: Hierarchical clustering matrix based on the genomic instability of the Copy Number Alteration (CNA) profiles of all the AH samples included in this analysis. Samples are listed by Case number_# based on the order of AH sampling (e.g. 1, 2, 3). Samples from eyes that were enucleated are indicated by the red bar adjacent the dentogram, those from eyes that were salvaged are indicated in blue.

Introduction This study aimed to assess the validity of telemedicine consultations using digital slit-lamp videos to detect anterior segment pathology in a paediatric population. Methods A paediatric anterior segment specialist simultaneously performed and recorded anterior segment examinations using the Topcon digital-ready slit lamp. Components of the examination included the eyelids/eyelashes, conjunctiva/sclera, cornea, anterior chamber, iris and lens. Masked to clinical findings, a paediatric ophthalmologist reviewed and graded the live video feed transmitted at 4 Mbps. At least three months later, both ophthalmologists graded the stored videos. We compared the sensitivity, specificity, percent agreement and weighted kappa (κ) of diagnosing anterior segment pathologies via live-streamed and store-and-forward video clips compared to the in-person standard examination. Results Examinations of 89 eyes from 45 children (5–17 years old) with known anterior segment pathology were included. Agreement between live-streamed and in-person standard examinations for conjunctiva/sclera, anterior chamber, iris and lens findings was almost perfect (sensitivity 89–96%, specificity 95–100%, κ = 0.87–0.97). Substantial agreement was found for cornea pathology (sensitivity 88%, specificity 90%, κ = 0.72), and moderate agreement was found for eyelids/eyelashes pathology (sensitivity 54%, specificity 92%, κ = 0.46). Store-and-forward results were similar, though slightly better for eyelids/eyelashes and slightly worse for conjunctiva/sclera. Discussion Digital slit-lamp videos hold promise for synchronous and asynchronous telemedicine in diagnosing paediatric anterior segment pathologies.

Supplementary Figure 1 The most frequent phylogenetic tree based on sampling mutations according to their detection power (276/1000 samples). Supplementary Figure 2 Allelic copy number profiles generated by ABSOLUTE (see Methods).

Supplemental Figure 3, online only: Initial Copy Number Alteration (CNA) profile from eyes that required enucleation + indicates that in Case 11 the second AH sample (which had good alignment and demonstrates gain of 6p) is shown instead of the initial sample (see also Table 1).

Purpose:Telemedicine adoption hinges on positive experiences for patients and providers. We report participants' experience from our prospective study. Patients and Methods:Ophthalmic examinations for children 0-17 years of age were conducted by an optometrist using digital exam instruments and streamed to an ophthalmologist. The ophthalmologist, optometrist, parent, and patient (≥10 years) completed surveys capturing patient and provider experience outcomes. Results:Three hundred forty-eight examinations were conducted with 210 patients in a hospital-based pediatric ophthalmology clinic. About 99% of parents were comfortable with exam quality, and 97% indicated they would have another telemedicine examination. Fifty-four of 55 consented for surgery during the initial telemedicine examination. Thirty-seven percent of families traveled ≥2 hours round-trip to their appointment; 1/3 of parents and patients missed a full day of work/school. Video glasses were by far the most useful instrument, while technical proficiency was most challenging with the digital indirect ophthalmoscope. Problem-focused examinations took 33 minutes of the ophthalmologist's time on average. Equipment challenges caused delays in 40/348 (11.5%) of visits, with the majority lasting 5-10 minutes. In a few cases, a backup device was used. Despite seeing significantly fewer patients on telemedicine days, the ophthalmologist's surgical volume increased 25%. Conclusion:All participants were satisfied with telemedicine visits despite longer durations and learning curve. Results indicate an opportunity for telemedicine in community settings to improve access to specialized care. Telemedicine enabled the optometrist to manage or co-manage more complex patients with a pipeline to the ophthalmologist for surgical cases. In the right setting, collaborative telemedicine consultations may be beneficial to one's practice.

BACKGROUND AND PURPOSE:To determine the efficacy of standardized definitions of degenerative change in reducing variability in interpretation of lumbar spine magnetic resonance imaging within and between groups of subspecialty-trained neuroradiologists (NR) and musculoskeletal radiologists (MSK).MATERIALS AND METHODS:Six radiologists, three from both NR and MSK groups were trained on a standardized classification system of degenerative change. After an 11-month washout period, they independently re-interpreted fifty exams at the L4-L5 and L5-S1 levels. Responses were converted to a six-point ordinal scale for the assessment of neural foraminal stenosis and spinal canal stenosis (SCS), three-point scale for lateral recess stenosis, and four-point scale for facet osteoarthritis (FO). Intra-subspecialty and inter-subspecialty analysis was performed using the weighted Cohen's kappa with a binary matrix of all reader pairs.RESULTS:Inter-subspecialty agreement improved from k=0.527 (moderate) to k=0.602 (substantial) for neural foraminal stenosis, from k=0.540 (moderate) to k=0.652 (substantial) for SCS, from k=0.0818 (slight) to k=0.337 (fair) for lateral recess stenosis, and from k=0.176 (slight) to k=0.495 (moderate) for FO. The NR group demonstrated improved intra-subspecialty agreement for the assessment of SCS, from k=0.368 (fair) to k=0.638 (substantial). The MSK group demonstrated improved intra-subspecialty agreement for the assessment of FO, from k=0.134 (slight) to k=0.413 (moderate). Intra-subspecialty agreement was similar for other parameters before and after training.CONCLUSIONS:As result of the standardized definitions training, the NR and MSK groups each improved in one of the four parameters, while inter-subspecialty variability improved in all four parameters. These definitions may be useful in clinical practice across radiology subspecialties.

PURPOSE:To describe the case of a 12-year-old woman with vitreoretinal manifestations of Type 3 Gaucher disease.METHODS:A retrospective case report including multimodal imaging and histologic examination of the vitreous.RESULTS:A 12-year-old woman with a history of Gaucher disease Type 3 was referred to the ophthalmology service for evaluation of vitreous deposits in both eyes. Funduscopic examination was notable for white vitreous opacities in both eyes. Ultra-widefield fluorescein angiography demonstrated areas of blockage associated with the deposits and focal areas of leakage. Optical coherence tomography angiography showed shadow artifact without intrinsic flow at these sites. Three years after presentation, she developed a right hemorrhagic posterior vitreous detachment, requiring pars plana vitrectomy with scleral buckle. A vitreous sample was sent to pathology, which demonstrated Gaucher cells.CONCLUSION:Gaucher disease is a rare metabolic condition caused by an autosomal recessive deficiency of glucocerebrosidase. To the best of our knowledge, this is the first report of hemorrhagic posterior vitreous detachment in Type 3 Gaucher disease, including ultra-widefield imaging, optical coherence tomography angiography, and histopathology.