A 4-year-old boy presented with poor vision following an episode of febrile illness with abdominal distension, seizures, and respiratory distress with metabolic acidosis. He had bilateral partial optic atrophy. Neuroimag...A 4-year-old boy presented with poor vision following an episode of febrile illness with abdominal distension, seizures, and respiratory distress with metabolic acidosis. He had bilateral partial optic atrophy. Neuroimaging revealed bilateral symmetric post-contrast enhancement of the optic nerves, diffuse white matter T2-hyperintensities, and a lactate peak on magnetic resonance spectroscopy. Serology for aquaporin-4 and myelin-oligodendrocyte antibodies were negative. Whole exome sequencing showed a homozygous pathogenic variant in the LYRM7 gene (c.2T>C) known to cause mitochondrial complex III deficiency. Following initiation of mitochondrial cocktail therapy, his visual behavior improved.
Twelker JD, Arthur AW, Bhakta R
… +11 more, Davis AL, Dennis LK, Enriquez SG, Gerhart KD, Hsu CH, González Marshall MS, Martin J, McGrath ER, Miller JM, Ramesh D, Harvey EM
BACKGROUND: We investigated the agreement between the Spot Vision Screener (Welch Allyn) and gold standard cycloplegic retinoscopy in infants and toddlers, with special attention to astigmatism. METHODS: Participants wer...BACKGROUND: We investigated the agreement between the Spot Vision Screener (Welch Allyn) and gold standard cycloplegic retinoscopy in infants and toddlers, with special attention to astigmatism. METHODS: Participants were children 12-35 months of age who failed a routine photoscreening using the Spot conducted at a recent well-child visit and who subsequently received a cycloplegic eye examination through the Spectacle Prescribing in Early Childhood Study (SPECS). RESULTS: The final sample included 410 children, with an average age of 20.24 months. The Spot mean spherical equivalent value (M) was significantly less hyperopic than cycloplegic retinoscopy M (+0.35 D vs +0.80 D, t[409] < 0.001), and mean Spot Vision Screener cylinder (CYL) was significantly higher than cycloplegic retinoscopy CYL (1.84 D. vs 1.58 D, t[409] < 0.001). CONCLUSIONS: Cycloplegic retinoscopy found more hyperopic, or conversely, less myopic sphere power, in 60% of participants at the clinically significant level of >0.50 D. When using the Spot, this could result in under-referral to an eye care professional for moderate to high hyperopia. About 1 in 4 subjects showed higher clinically significant cylinder (>1.00 D) using the Spot compared with cycloplegic retinoscopy, which could result in over-referral for astigmatism when using the 2013 criteria for astigmatism.
PURPOSE: To determine associations of income and education level with a diagnosis of strabismus and to identify socioeconomic variables that may affect timely access to diagnosis. METHODS: Annual income, highest level of...PURPOSE: To determine associations of income and education level with a diagnosis of strabismus and to identify socioeconomic variables that may affect timely access to diagnosis. METHODS: Annual income, highest level of education completed, and ZIP code income, high school completion, poverty, and socioeconomic deprivation metrics were collected from 413,360 participants in the database. A χ test was used to determine significant differences in distributions of income, education, and ZIP code metrics in 3,734 strabismus patients compared with the overall database. RESULTS: Participants living in ZIP codes with lower multidimensional deprivation indices (less deprivation) are more likely to be diagnosed with strabismus. Participants with annual income below $10,000 (10.10%) or who completed education between fifth grade and a high school diploma or GED (20.06%) are less likely to receive a diagnosis for certain strabismus subtypes. Participants with annual income over $200,000 (7.07%), advanced degrees (27.02%), living in ZIP codes with higher income, and higher high school completion rates were more likely to be diagnosed with certain strabismus subtypes. CONCLUSIONS: Participants diagnosed with strabismus tend to have higher incomes, an advanced degree, and reside in more affluent ZIP codes, whereas those with lower income and education levels are less likely to be diagnosed. These findings reveal potential socioeconomic disparities in access to ophthalmic diagnostic services and care. Findings emphasize the importance of addressing socioeconomic barriers in eye care to enable equitable access.
PURPOSE: To determine the prevalence of adult-diagnosed strabismus and its associations with sex, age, and race in a large, diverse population database in the United States. METHODS: Sex, age, and race data were collecte...PURPOSE: To determine the prevalence of adult-diagnosed strabismus and its associations with sex, age, and race in a large, diverse population database in the United States. METHODS: Sex, age, and race data were collected from 413,457 individuals in the All of Us database. The χ test with post hoc pairwise comparisons was used to determine significant differences in distributions of sex, age, and race data in 3,734 strabismus patients compared with the overall database. RESULTS: There is a higher proportion of males among patients with strabismus compared with the overall database (43.34% vs 38.34% [P < 0.001]). There is a significantly higher proportion of patients aged over 65 years among patients with strabismus compared with the overall database (45.77% vs 24.7% [P < 0.001]). There is also a significantly different racial distribution of individuals with strabismus compared with the overall database (P < 0.001). Pairwise comparisons showed a significantly lower proportion of Asian individuals among patients with strabismus or heterotropia, a lower proportion of Black individuals with most subtypes, and a higher proportion of White individuals among patients with any strabismus. CONCLUSIONS: These results suggest that there is a lower proportion of females, Asian, and Black participants with diagnosed strabismus compared with the overall population in the All of Us database. These findings may indicate that strabismus affects patient populations differently, or that there is differential access to care and diagnosis of strabismus across sex, age, and race.
Accessory extraocular fibrous bands are orbital structures that are typically symptomatic in patients with congenital cranial dysinnervation disorders. However, orbital imaging studies have documented asymptomatic access...Accessory extraocular fibrous bands are orbital structures that are typically symptomatic in patients with congenital cranial dysinnervation disorders. However, orbital imaging studies have documented asymptomatic accessory extraocular fibrous in individuals without strabismus. The role of preexisting symptomatic fibrotic bands in causing persistent restrictive strabismus in patients with acquired strabismus and the possibility that inflammatory conditions affecting the extraocular muscles could also affect those bands is rarely discussed. We present 2 cases of thyroid eye disease (TED) in which asymptomatic bands likely became clinically significant with progression of TED. Both patients developed restrictive strabismus and underwent strabismus surgery. Both showed persistent positive forced duction tests (FDT) despite muscle disinsertion. Intraoperative identification and excision of fibrotic bands led to normalization of the FDT and improved surgical outcomes. These bands may contribute to atypical motility patterns in TED.
Obtaining parental consent is a crucial step for students to receive eye examinations in school-based vision programs (SBVPs). Using paper consent forms is challenging and may limit responses. We explored a novel, phased...Obtaining parental consent is a crucial step for students to receive eye examinations in school-based vision programs (SBVPs). Using paper consent forms is challenging and may limit responses. We explored a novel, phased, multimodal consent approach in a Baltimore SBVP to increase program participation during the 2022-23 school year. Vision screenings were provided for all students as part of the program. Consent outreach was conducted for all students prior to vision screening (universal phase) and again after for students who failed a vision screening (targeted phase). Email consent only was used during the universal phase, whereas a tiered approach that combined email, paper, and telephone was used in the targeted phase. Of the 46 schools that implemented multimodal consenting, the mean overall consent response rate was 86% ± 9.3% (range, 62%-99%). Mean universal and targeted consent response rate was 15% (95% CI, 13%-18%) and 71% (95% CI, 68%-74%), respectively. Among targeted consent responses, 10% were obtained by email, 26% by paper, and 64% by telephone.
Moebius syndrome is a rare congenital disorder in which bilateral abduction is impaired, resulting in moderate- to large-angle esotropia. Various surgical procedures have been developed to correct esotropia in Moebius sy...Moebius syndrome is a rare congenital disorder in which bilateral abduction is impaired, resulting in moderate- to large-angle esotropia. Various surgical procedures have been developed to correct esotropia in Moebius syndrome, including bilateral medial rectus (bimedial) recessions for moderate angles and bimedial recessions combined with vertical rectus transpositions or superior rectus transpositions for larger deviations. We describe a case of Moebius syndrome treated with modified Nishida's procedure and bimedial recession to correct large-angle esotropia.
Research investigating an association between vision impairment and toddlers' ability to reach developmental milestones is sparse. Medical records of children 11-37 months of age who had automated vision screening were r...Research investigating an association between vision impairment and toddlers' ability to reach developmental milestones is sparse. Medical records of children 11-37 months of age who had automated vision screening were retrospectively reviewed to evaluate whether such an association was present. A lower likelihood of development delay was associated with female sex and Hispanic patients. However, developmental delay diagnosis was not associated with failing automated vision screening.
The uvea is a rare site for primary or recurrent lymphoma, but it is a potentially sight- and life-threatening pediatric presentation. The differential diagnosis is broad, and tissue biopsy is necessary for confirmation...The uvea is a rare site for primary or recurrent lymphoma, but it is a potentially sight- and life-threatening pediatric presentation. The differential diagnosis is broad, and tissue biopsy is necessary for confirmation and appropriate management. We present the first published case of relapsed atypical B-cell lymphoma with KMT2A gene rearrangement involving the iris. Despite a high index of clinical suspicion of recurrent systemic lymphoma, biopsy of aqueous was nondiagnostic. The child required further aqueous sampling and iris biopsy, which confirmed the diagnosis and allowed for appropriate treatment. Pearls for acquiring a representative aqueous biopsy, as well as a surgical video describing aqueous and iris biopsy technique are provided.
BACKGROUND: Missed appointments, in addition to imposing a high financial burden on the health care sector, are well-documented to result in poorer health outcomes and may impact a child's overall well-being. This study...BACKGROUND: Missed appointments, in addition to imposing a high financial burden on the health care sector, are well-documented to result in poorer health outcomes and may impact a child's overall well-being. This study aimed to identify pediatric factors associated with appointment non-attendance in a large public hospital in New Zealand. METHODS: Clinic non-attendance from the Auckland District Health Board Ophthalmology Department from January 1, 2018, to December 31, 2019 was analyzed retrospectively. Demographic data collected included: age, sex, and ethnicity. Deprivation index was calculated. Appointments were classified as new patients and follow-ups, and acute or routine. Categorical and continuous variables were analyzed using logistic regression to assess the likelihood of non-attendance. RESULTS: In total, 22,818 pediatric (age <18) appointments were scheduled, of which 2,965 visits (13.0%) were missed. Mean age in the pediatric cohort was 6.8 ± 4.6 years and 12,106 (53.1%) were male. Ethnicity was White in 8,762 (41.0%), Māori in 3,147 (14.75%), Pacific peoples in 3,188 (14.9%), Asian in 5,290 (24.8%) and other in 982 (4.6%). Multivariable logistic regression analysis for all appointments showed that male sex (OR = 1.136; P = 0.002), Māori ethnicity (OR = 2.982; P < 0.001), Pacific peoples ethnicity (OR = 2.905; P < 0.001), other ethnicity (OR = 1.467; P < 0.001) and deprivation index (OR = 1.072; P < 0.001) were associated with missed appointments. CONCLUSIONS: Male Māori and Pacific children living in high social deprivation disproportionately experience higher rates of missed appointments. Further research exploring barriers families face when seeking ophthalmic care for their children is needed to inform appropriate interventions.
PURPOSE: To characterize how pediatric screening demographic characteristics changed after the COVID-19 pandemic in children attending Give Kids Sight Day (GKSD), a free vision screening program in Philadelphia. METHODS:...PURPOSE: To characterize how pediatric screening demographic characteristics changed after the COVID-19 pandemic in children attending Give Kids Sight Day (GKSD), a free vision screening program in Philadelphia. METHODS: Three data sets were analyzed: (1) prospective survey from guardians attending GKSD 2023, (2) retrospective analysis of GKSD attendee records, and (3) pre-pandemic (2009-2020) GKSD data. RESULTS: A total of 293 children attended GKSD in 2023, and 189 surveys were completed. Compared with pre-pandemic GKSD events, there were more repeat participants (15% to 26% [P < 0.001]), greater percentage uninsured (26%-27% to 38% [P < 0.001]), and more insured without vision coverage (30% to 46% [P = 0.002]). More children required refractive correction (28%-61% to 76% [P < 0.001]) and subsequent follow-up (10%-15% to 17% [P = 0.004]). Of children receiving their first pair of glasses, 47% had not failed a previous vision screening. Ninety-one percent of missed appointments were for first-time attendees. Eye-care-naive attendees commonly learned of GKSD from school (59%). Perceived barriers to care were diverse and equally distributed among respondents. CONCLUSIONS: Since the COVID-19 pandemic, insurance coverage for vision care has declined, with rising unmet ophthalmic needs in event attendees. Many children with refractive pathology had never failed prior school-based vision screening, suggesting lapses in current screening systems. School-based initiatives, funding, and community social worker support are needed to connect eye-care-naive patients with ophthalmic care, ensure community screening is completed effectively, and connect families to subsidized insurance plans.
PURPOSE: To investigate predictors of access to pediatric eye care appointments in the United States. METHODS: A comprehensive list of pediatric ophthalmologists and optometrists was compiled, and offices were contacted...PURPOSE: To investigate predictors of access to pediatric eye care appointments in the United States. METHODS: A comprehensive list of pediatric ophthalmologists and optometrists was compiled, and offices were contacted to respond to a structured telephone survey regarding private insurance and Medicaid acceptance and appointment availability. Simple logistic regressions were used to assess risk factors affecting proportions of successful appointments and appointment wait times. Multivariable analysis adjusted for potential confounding factors, including physician type, practice type, geographic location, insurance type, and race majority in county. The main outcome measures were percentages of successful appointments, predictors associated with higher chances for a successful appointment, and average appointment wait times. RESULTS: A total of 925 offices of 1,528 providers were contacted (62% ophthalmologists). The percentage of successful appointments was significantly lower with ophthalmologists (39.7%) than optometrists (65.6% [P < 0.001]). Average wait times for successful appointments were significantly shorter at the offices of optometrists (25.4 ± 36.5 days) versus ophthalmologists (52.8 ± 58.3 days [P < 0.001]). Medicaid patients had a statistically significantly lower appointment success rate (37.2%) compared with the privately insured (62.0% [P < 0.001]), and their average wait times were 46.5 ± 56.19 days, compared with 40.0 ± 50.7 days for privately insured patients (P < 0.093). In majority White counties, appointments booked 50.2% (95% CI, 48.4-52.0) compared with 41.3% (95% CI, 34.6-48.0) in predominantly minority counties (P = 0.014). CONCLUSIONS: Disparities in the proportions of booked appointments and wait times for pediatric eye care visits based on insurance type, provider type, and demographics underscore the need for increased access to pediatric eye care.
A 5-year-old girl was brought to the emergency room with unequal pupil size, fever, and ear pain. Computed tomography and magnetic resonance imaging showed left otomastoiditis complicated with a subperiosteal abscess in...A 5-year-old girl was brought to the emergency room with unequal pupil size, fever, and ear pain. Computed tomography and magnetic resonance imaging showed left otomastoiditis complicated with a subperiosteal abscess in the posteromedial left temporomandibular joint. Magnetic resonance angiography revealed enhancement of the left canalicular carotid vessel wall due to adjacent inflammatory process, with irritation of post synaptic sympathetic fibers, causing left Horner syndrome. Horner syndrome can be caused by apical lung tumors, carotid artery dissection, and metastatic neuroblastoma, but otomastoiditis is an uncommon etiology. Recognition and further workup of anisocoria is crucial to management of extracranial complications of otomastoiditis.
PURPOSE: To compare the clinical characteristics and outcomes of pediatric patients with and without craniofacial abnormalities who underwent dacryocystorhinostomy (DCR) for recalcitrant congenital nasolacrimal duct obst...PURPOSE: To compare the clinical characteristics and outcomes of pediatric patients with and without craniofacial abnormalities who underwent dacryocystorhinostomy (DCR) for recalcitrant congenital nasolacrimal duct obstruction (CNLDO). METHODS: This multicenter retrospective cohort study included all patients <17 years of age who underwent DCR for CNLDO over a 20-year period, from 2003 to 2023. Outcome measures included residual epiphora following surgery and need for additional surgery including DCR revision. RESULTS: A total of 40 patients (55 eyes) underwent DCR, of whom 28 (51%) had associated craniofacial abnormalities. Mean age at surgery was 6.3 ± 4.0 years, and 30 (55%) were female. There were no significant differences in age at surgery, sex, or surgical approach between isolated CNLDO and CNLDO associated with craniofacial abnormalities, but the craniofacial cohort was significantly more likely to require multispecialty surgical care (43% vs 7% [P < 0.05]) and have proximal lacrimal system pathology (OR = 7.92, P = 0.001). In the craniofacial cohort, 46% of eyes had residual symptoms following surgery compared with 26% in the isolated group (OR = 3.3, P = 0.06), and patients with craniofacial abnormalities who underwent multispecialty surgery were significantly more likely to have complete symptom resolution (OR = 8.33, P = 0.017). In the craniofacial group, there were 6 revisions; in the isolated group, 2. CONCLUSIONS: In our patient cohort, CNLDO associated with craniofacial abnormalities had a higher likelihood of persistent epiphora following DCR than isolated CNLDO, but multidisciplinary surgical care was associated with improved outcomes. Surgeons should be prepared to address proximal lacrimal pathology at the time of DCR in children with craniofacial abnormalities.
PURPOSE: To provide updated epidemiologic data on pediatric traumatic hyphema. METHODS: This multicenter retrospective, population-based cohort study included all patients <19 years of age diagnosed with a closed-globe t...PURPOSE: To provide updated epidemiologic data on pediatric traumatic hyphema. METHODS: This multicenter retrospective, population-based cohort study included all patients <19 years of age diagnosed with a closed-globe traumatic hyphema from January 1, 2000, through December 31, 2009, in a single United States county. RESULTS: During the 10-year study period, 70 patients (52 males [74%]) sustained a traumatic hyphema, yielding an incidence of 19 per 100,000 patients. Mean age at diagnosis was 13 years (range, 4.8-18.6). The most common injury mechanisms were sports (43%) and projectiles (23%). Mean logMAR visual acuity at presentation was 0.218 (range, 0.0 to light perception), and 14 patients (20%) had ocular hypertension during the first month post-injury. Microhyphema was present in 27 patients (44%), and 2 (3%) had a grade III hyphema or worse. Mean final logMAR visual acuity was 0.03 (range, -0.1 to 0.54). No patient had persistently elevated or asymmetric intraocular pressure. Long-term sequelae occurred in 29 patients (41%), most commonly angle abnormalities, but 27 (39%) did not undergo gonioscopy during the follow-up period. CONCLUSIONS: The population-based incidence of traumatic hyphema is similar to that reported five decades ago. Expected visual recovery is good, although long-term sequelae are relatively common. The risk of ocular hypertension or glaucoma following traumatic hyphema is low through young adulthood, but one-third of patients did not receive gonioscopy following injury.
PURPOSE: To compare the results of telemedicine versus in-person initial postoperative evaluations of patients who underwent strabismus surgery. METHODS: We conducted a retrospective chart review of patients who underwen...PURPOSE: To compare the results of telemedicine versus in-person initial postoperative evaluations of patients who underwent strabismus surgery. METHODS: We conducted a retrospective chart review of patients who underwent strabismus surgery at a single institution by a single surgeon between June 2020 and December 2022. Initial postoperative visits were consistently conducted via telemedicine. Collected data included the percentage of visits completed successfully, average time to complete visits, technical difficulties, no-show rates, and average numbers of complications. This data was compared with the same measures from in-person initial postoperative visits for the period January 2018 to March 2020. Statistical analysis was conducted to determine significant differences in the two data sets. RESULTS: A total of 276 charts were reviewed, 109 of which were from in-person postoperative visits and 167 were from telemedicine visits. Telemedicine was found to significantly reduce the length of the initial postoperative visit compared with in-person visits (P < 0.001), with no significant differences noted in visit attendance rates (P = 0.12). Additionally, there were no significant differences in complications or adverse outcomes of strabismus surgery between telemedicine and in-office visits (P = 0.50). CONCLUSIONS: In our single-center study cohort, telemedicine proved a viable option for initial postoperative visits following strabismus surgery, with reduction in duration of visits and no significant difference in completion rates and adverse outcomes compared with in-person visits.
There are few investigations into low-penetrance heritable retinoblastoma (RB) mutations and sparse reports of identical twins with RB. To our knowledge, this is the first report of monozygotic twins with molecularly pro...There are few investigations into low-penetrance heritable retinoblastoma (RB) mutations and sparse reports of identical twins with RB. To our knowledge, this is the first report of monozygotic twins with molecularly proven discordant RB and the largest pedigree published describing a low-penetrance RB1 mutation with multiple successive generations of silent carriers.
BACKGROUND: Published reports, all of which are underpowered to detect a difference, demonstrate conflicting findings on the benefit of inferior turbinate infracture during congenital nasolacrimal duct (CNLD) probing. Th...BACKGROUND: Published reports, all of which are underpowered to detect a difference, demonstrate conflicting findings on the benefit of inferior turbinate infracture during congenital nasolacrimal duct (CNLD) probing. The purpose of this study was to report the effect of inferior turbinate infracture on outcomes of CNLD probing and assess for long-term complications from the procedure. METHODS: The medical records of all patients <6 years of age who underwent probing for congenital nasolacrimal duct obstruction (CNLDO) at a single referral center from January 1, 2002, through December 31, 2018, were retrospectively reviewed. RESULTS: Of 987 consecutive probing procedures, 184 (18.6%) underwent inferior turbinate infracture. The mean age at diagnosis and surgery, prevalence of prematurity, race, and sex did not differ between the infracture and control groups. Probing success was similar between infracture (80.4%) and control (80.6%) groups (P = 0.916). The subsequent development of long-term nasopharyngeal disorders including sleep apnea, chronic rhinitis, and chronic sinusitis was no different between groups. Subgroup analysis comparing outcomes of first-time probing versus first-time probing with infracture and single-surgeon analysis maintained no significant difference in outcomes between the two groups. Only late probings (age ≥24 months) tended to be more successful (but not significantly so; P = 0.16) when combined with an infracture (87.3%) compared with those without infracture (78.8%). CONCLUSIONS: Concurrent inferior turbinate infracture did not significantly improve probing success for children with CNLDO in this cohort. However, because potential nasopharyngeal complications are unlikely, the procedure may safely be considered. Future studies should clarify the benefit of infracture for children ≥24 months of age.
We describe the ophthalmic features in 2 siblings with genetically confirmed Cousin syndrome. Each sibling had a very large-angle exotropia with minimal ocular motility in any position of gaze. The younger had severe pto...We describe the ophthalmic features in 2 siblings with genetically confirmed Cousin syndrome. Each sibling had a very large-angle exotropia with minimal ocular motility in any position of gaze. The younger had severe ptosis. Magnetic resonance imaging of the brain revealed multiple skull abnormalities but normal cranial nerve pathways and normal extraocular muscles. On exploration, the lateral rectus muscles were extremely tight. Forced duction testing was positive for all rectus muscles, with no rotation of the globe toward adduction and least positive for abduction. A homozygous pathogenic variant in TBX15 was identified.