Incidence and clinical characteristics of congenital nasolacrimal duct obstruction with concurrent craniofacial abnormalities among a population-based cohort.

PURPOSE: Data supporting treatment recommendations for congenital nasolacrimal duct obstruction (CNLDO) in patients with craniofacial abnormalities is scarce. This study reports the incidence, clinical features, and outcomes of patients with concomitant craniofacial abnormalities and CNLDO. METHODS: This multi-center, retrospective, population-based cohort study included all patients diagnosed with CNLDO before age 6 during a 10-year period in a single US county. RESULTS: Of the 17,713 live births during the study period, 1998 infants were diagnosed with CNLDO, among whom 41 (2.05%) had associated congenital craniofacial abnormalities, yielding a birth prevalence of 23.1 (95% CI 16.6-31.4) per 10,000 live births. Craniofacial patients were significantly older at time of diagnosis (6.2 months) compared to uncomplicated CNLDO (3.7 months; p = 0.035). There was no significant difference in mean age at spontaneous CNLDO resolution, but 31.7% of craniofacial patients required probing for CNLDO resolution, compared to 14.5% in the CNLDO group (OR 2.76 [95%CI 1.41-5.39] p = 0.003). All but two patients with craniofacial abnormalities had resolution of symptoms after initial probing. Intraoperative probing findings indicated that 8 of 13 craniofacial patients had complex obstructions. CONCLUSIONS: The similar age at spontaneous resolution indicates that watchful waiting until approximately one year of age is a reasonable approach even in patients with craniofacial abnormalities, though more of these patients may require surgical intervention.

Vascular Risk Factors in Isolated Microvascular Ischemic Third Nerve Palsy: A Population-Based Study.

BACKGROUND: Although presumed microvascular third nerve palsies (TNP) have been associated with vascular risk factors and/or stroke, these associations have not been explored in a population-based cohort. The purpose of this population-based case-control study was to determine whether these factors are associated with TNPs that had been classified as isolated microvascular ischemic events and determine future risk of mortality. METHODS: Participants were subjects >18 years old with new onset of isolated TNP attributed to presumed microvascular ischemia (n = 55) while residing in Olmsted County, Minnesota, from January 1, 1978 to December 31, 2014. Control subjects (n = 55) were randomly selected from the same population and matched for gender, age, and length of medical follow-up. We identified all cases of new-onset isolated presumed microvascular ischemic TNP using the Rochester Epidemiology Project, a record-linkage system of medical records for all patient-physician encounters in Olmsted County, Minnesota. All medical records of cases and controls were reviewed for potential risk factors, including diabetes mellitus, diabetic retinopathy, hypertension, hyperlipidemia, smoking, and symptomatic ischemic stroke. Multivariable and univariate logistic regression analyses were used to compare the prevalence of potential risk factors between microvascular ischemic cases and controls according to the number of subjects, and odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Kaplan-Meier curves were used to compare mortality between cases and controls. RESULTS: The annual incidence of microvascular ischemic TNP was 1.7 per 100,000. Univariate analysis demonstrated that hypertension ( P < 0.001; OR, 4.80; 95% CI, 2.11-11.58), diabetes mellitus ( P < 0.001; OR, 6.55; 95% CI, 2.72-17.32), diabetic retinopathy ( P = 0.014; OR, 13.50; 95% CI, 2.48-251.55), coronary artery disease ( P = 0.047; OR, 2.27; 95% CI, 1.02-5.18), and symptomatic ischemic stroke ( P = 0.039; OR, 3.56; 95% CI, 1.07-11.85) all occurred more frequently in patients with microvascular ischemic TNP than controls. In multivariate analysis, only hypertension (OR of 4.14, 95% CI, 1.61-10.65, P < 0.001) and diabetes (OR of 4.12, 95% CI, 1.43-11.92, P = 0.003) remained independently statistically significant. There was numerically higher mortality in microvascular cases than in controls, but it did not reach statistical significance. CONCLUSIONS: There are multiple cardiovascular diseases that are associated with isolated microvascular ischemic TNP, including hypertension, coronary artery disease, diabetes mellitus, diabetic retinopathy, and symptomatic ischemic stroke. Given that the main drivers of this association seem to be diabetes and hypertension, patients with microvascular ischemic TNP should be evaluated for these conditions.

Prevalence and clinical features of orbital vascular anomalies in children.

PURPOSE: To report the prevalence, clinical characteristics, and natural history of orbital vascular anomalies diagnosed among children over a 50-year period. METHODS: The medical records of all patients <19 years diagnosed with any form of an orbital vascular anomaly (OVA) at Mayo Clinic, Rochester, Minnesota from January 1 1966, through December 31 2015, were retrospectively reviewed. RESULTS: A total of 109 children were diagnosed with OVA during the 50-year period, of which 24 were from Olmsted County, MN, yielding a birth prevalence of 1 in 4,305 live births. The median age at diagnosis for the 109 patients was 1.2 years (range, 0-17.9 years) and 67 (61.5%) were female. Common presenting symptoms included proptosis in 80 (73.4%) patients, abnormalities in skin color in 45 (41.3%) patients, and pain in 18 (16.5%) patients. There were 55 (50.5%) vascular malformations [50 (91%) low-flow lymphatic malformations, 3 (5.5%) high-flow arteriovenous malformations, and 2 (3.5%) low-flow venous malformations] and 54 (49.5%) vascular tumors [53 (98%) capillary hemangiomas and 1 (2%) kaposiform hemangioendothelioma]. During a mean follow-up of 5.95 years (range 0-27.7 years), amblyopia and/or strabismus were diagnosed in 46 (43.4%) patients. CONCLUSIONS: Capillary hemangiomas and low-flow lymphatic malformations comprise most of the orbital vascular anomalies in this cohort of children. Amblyopia and strabismus are common sequelae, highlighting the importance of early diagnosis and appropriate management.

Three-year observation of children 12 to 35 months old with untreated intermittent exotropia.

PURPOSE: To describe the clinical course of untreated intermittent exotropia (IXT) in children 12-35 months of age followed for 3 years. METHODS: We enrolled 97 children 12-35 months of age with previously untreated IXT who had been randomly assigned to the observation arm of a randomised trial of short-term occlusion versus observation. Participants were observed unless deterioration criteria were met at a follow-up visit occurring at 3 months, 6 months, and 6-month intervals thereafter for 3 years. The primary outcome was deterioration of the IXT by 3 years, defined as (1) a constant exotropia ≥10 prism dioptres (∆) at distance and near (i.e., motor deterioration) or (2) treatment prescribed despite not having met motor deterioration. The primary analysis used the Kaplan-Meier method to determine the cumulative proportion of participants meeting deterioration by three years and 95% confidence interval (CI). RESULTS: The cumulative probability of deterioration by 3 years was 28% (95% CI = 20%-39%). Of the 24 participants meeting the primary outcome of deterioration, seven met motor deterioration and 17 were prescribed treatment without meeting motor deterioration. The cumulative probability of motor deterioration by 3 years was 10% (95% CI = 5%-19%). CONCLUSIONS: Given the modest rate of motor deterioration over three years, watchful waiting may be a reasonable management approach in 12- to 35-month-old children with IXT. To confirm this recommendation would require a long-term randomised trial of immediate treatment versus observation followed by deferred treatment if needed.

Three-Year Observation of Children 3 to 10 Years of Age with Untreated Intermittent Exotropia.

PURPOSE: To describe the course of intermittent exotropia (IXT) in children followed up without treatment for 3 years. DESIGN: Observation arm from randomized trial of short-term occlusion versus observation. PARTICIPANTS: One hundred eighty-three children 3 to 10 years of age with previously untreated IXT and 400 seconds of arc (arcsec) or better near stereoacuity. METHODS: Participants were to receive no treatment unless deterioration criteria were met at a follow-up visit occurring at 3 months, 6 months, or 6-month intervals thereafter for 3 years. MAIN OUTCOME MEASURES: The primary outcome was deterioration by 3 years, defined as meeting motor criterion (constant exotropia ≥10 prism diopters [Δ] at distance and near) or near stereoacuity criterion (≥2-octave decrease from best previous measure). For the primary analysis, participants also were considered to have deteriorated if treatment was prescribed without meeting either deterioration criterion. RESULTS: The cumulative probability of protocol-specified deterioration by 3 years was 15% (95% confidence interval, 10%-22%), but that was likely an overestimate, partly because of misclassification. Among 25 deteriorations, 2 met motor deterioration, 11 met stereoacuity deterioration, and 12 started treatment without meeting either criteria (7 for social concern, 1 for diplopia, 4 for other reasons). Among the 132 participants who completed the 3-year visit and had not been treated during the study, only 1 (<1%) met motor or stereoacuity deterioration criteria at 3 years. Of the 4 participants completing the 3-year visit who met deterioration criteria previously and had not started treatment, none still met deterioration criteria. Between the baseline and 3-year examination for these 132 patients, improvement occurred in distance and near stereoacuity (mean improvement, 0.14 and 0.14 logarithm of arcsec; P ≤ 0.001 and P ≤ 0.001, respectively), distance exotropia control (mean improvement, 0.6 points; P ≤ 0.001), and distance exodeviation magnitude (mean improvement, 2.2 Δ; P = 0.002). CONCLUSIONS: Among children 3 to 10 years of age with IXT for whom surgery was not considered to be the immediately necessary treatment, stereoacuity deterioration or progression to constant exotropia over 3 years was uncommon, and exotropia control, stereoacuity, and magnitude of deviation remained stable or improved slightly.

The incidence and clinical characteristics of adult-onset convergence insufficiency.

OBJECTIVE: The purpose of this study was to describe the clinical characteristics and natural history of convergence insufficiency (CI) in a population-based cohort of adults. DESIGN: Retrospectively reviewed population-based cohort. PARTICIPANTS: Adult (age ≥19 years) residents of Olmsted County, Minnesota. METHODS: The medical records of all adults diagnosed with CI over a 20-year period were reviewed retrospectively. MAIN OUTCOME MEASURES: Clinical characteristics and outcomes for adult-onset CI. RESULTS: A total of 118 adults (annual incidence, 8.44 per 100 000 patients older than 19 years) were diagnosed with CI during the 20-year period, constituting 15.7% of all forms of adult-onset strabismus observed in this population. The median age at diagnosis was 68.5 years (range, 21.7-97.1 years), and 68 (57.6%) were female. The mean initial exodeviation at near was 14.1 prism diopters (PD; range, 1-30 PD) and 1.7 PD (range, 0-10 PD) at distance. The Kaplan-Meier rate of exotropia increasing over time by 7 PD or more at near was 4.2% at 5 years, 13.5% at 10 years, and 24.4% at 20 years. Approximately 88% were managed with prisms, whereas less than 5% underwent surgical correction. CONCLUSIONS: Adult-onset CI included approximately 1 in 6 adults who were newly diagnosed with strabismus in this 20-year cohort. There was a significant increase in incidence with increasing age. Nearly one-fourth had an increase of their near exodeviation of at least 7 PD by 20 years after their diagnosis, and most patients were managed conservatively.

A Randomized Trial Comparing Part-time Patching with Observation for Intermittent Exotropia in Children 12 to 35 Months of Age.

PURPOSE: To determine the effectiveness of part-time patching for treating intermittent exotropia (IXT) in young children. DESIGN: Multicenter, randomized clinical trial. PARTICIPANTS: Two hundred one children 12 to 35 months of age with untreated IXT meeting the following criteria: (1) IXT at distance OR constant exotropia at distance and either IXT or exophoria at near, and (2) 15-prism diopter (Δ) or more exodeviation at distance or near by prism and alternate cover test (PACT) but at least 10 Δ exodeviation at distance by PACT. METHODS: Participants were assigned randomly to either observation (no treatment for 6 months) or patching prescribed for 3 hours daily for 5 months, followed by 1 month of no patching. MAIN OUTCOME MEASURES: The primary outcome was deterioration, defined as constant exotropia measuring at least 10 Δ at distance and near or receipt of nonprotocol treatment for IXT. RESULTS: Of the 177 participants (88%) completing the 6-month primary outcome examination, deterioration occurred in 4.6% (4 of 87) of the participants in the observation group and in 2.2% (2 of 90) of the participants in the patching group (difference, 2.4%; P = 0.27; 95% confidence interval, -3.8% to +9.4%). Motor deterioration occurred in 2.3% (2 of 87) of the observation group and in 2.2% (2 of 90) of the patching group (difference, 0.08%; P = 0.55; 95% confidence interval, -5.8% to +6.1%). For the observation and patching groups, respectively, 6-month mean PACT measurements were 27.9 Δ versus 24.9 Δ at distance (P = 0.02) and 19.3 Δ versus 17.0 Δ at near (P = 0.10); 6-month mean exotropia control scores were 2.8 versus 2.3 points at distance (P = 0.02) and 1.4 versus 1.1 points at near (P = 0.26). CONCLUSIONS: Among children 12 to 35 months of age with previously untreated IXT, deterioration over 6 months was uncommon, with or without patching treatment. There was insufficient evidence to recommend part-time patching for the treatment of IXT in children in this age group.

Incidence, types, and lifetime risk of adult-onset strabismus.

OBJECTIVE: To describe the incidence and types of adult-onset strabismus in a geographically defined population. DESIGN: Retrospectively reviewed population-based cohort. PARTICIPANTS: All adult (≥19 years of age) residents of Olmsted County, Minnesota, diagnosed with new-onset adult strabismus from January 1, 1985, through December 31, 2004. METHODS: The medical records of all potential cases identified by the resources of the Rochester Epidemiology Project were reviewed. MAIN OUTCOME MEASURES: Incidence rates for adult-onset strabismus and its types. RESULTS: Seven hundred fifty-three cases of new-onset adult strabismus were identified during the 20-year period, yielding an annual age- and gender-adjusted incidence rate of 54.1 cases (95% confidence interval, 50.2-58.0) per 100 000 individuals 19 years of age and older. The 4 most common types of new-onset strabismus were paralytic (44.2% of cases), convergence insufficiency (15.7%), small-angle hypertropia (13.3%), and divergence insufficiency (10.6%). The incidence of adult-onset strabismus overall and its 4 most common forms significantly increased with age (P <0.001 for all), with a peak incidence in the eighth decade of life. The lifetime risk of being diagnosed with adult-onset strabismus was 4.0% in women and 3.9% in men. CONCLUSIONS: Paralytic strabismus was the most common subtype of new-onset adult strabismus in this population-based cohort. All of the most common forms of adult-onset strabismus increased with age, especially after the sixth decade of life. Further characterization of strabismus types found in this study is warranted to better define this disorder.

Associations between health-related quality of life and the decision to perform surgery for childhood intermittent exotropia.

OBJECTIVE: To assess associations between health-related quality of life (HRQOL) and the decision to perform strabismus surgery for children with intermittent exotropia. DESIGN: Retrospective chart review. PARTICIPANTS: Children with intermittent exotropia. METHODS: Included subjects, identified in a clinical practice, had assessment of HRQOL using the intermittent exotropia questionnaire (IXTQ), comprising child, proxy, and parent components (parent domains: function, psychosocial, and surgery). The IXTQ scores were evaluated for association with surgery, along with standard clinical measures: prism and alternate cover test (PACT), stereoacuity, and control score (mean of the 3 most recent scores). Included data were from preoperative examination (surgical cohort) or from most recent follow-up examination (nonsurgical cohort). Univariate and multivariate logistic regression analyses were performed, and relative risk (RR) ratios were calculated. Spearman rank correlations were calculated to identify highly correlated items. MAIN OUTCOME MEASURES: Association of individual factors with the decision to perform surgery, calculated using RR ratios. RESULTS: One hundred six children with intermittent exotropia (median age, 6 years; range, 2-16 years) were eligible for inclusion. Nineteen (18%) of 106 underwent surgery. Using all available data, the IXTQ proxy score, IXTQ parent function score, IXTQ parent psychosocial score, distance control score, near control score, near PACT, and Randot Preschool stereoacuity (Stereoptical Co, Inc, Chicago, IL) were associated with undergoing surgery (P<0.1). Sixty-nine of 106 patients had complete data on all factors identified in univariate analysis and were included in multivariate analyses. Fourteen (20%) of these 69 patients underwent surgery. In multivariate analyses, poor distance control score (RR, 1.83; 95% confidence interval [CI], 1.25-2.68) and reduced IXTQ parent function score (RR, 0.96; 95% CI, 0.92-0.99) were associated with surgical intervention. Repeat multivariate analyses retaining only 1 of the highly correlated items showed IXTQ proxy, IXTQ parent psychosocial, larger near PACT, and worse near control were also associated with surgery. CONCLUSIONS: After accounting for poorer exodeviation control at distance, reduced parent and proxy HRQOL were associated with undergoing strabismus surgery for childhood intermittent exotropia. Recognizing reduced parental HRQOL may be important, with a possible role for educational or counselling interventions.

A randomized trial comparing part-time patching with observation for children 3 to 10 years of age with intermittent exotropia.

OBJECTIVE: To determine the effectiveness of prescribed part-time patching for treatment of intermittent exotropia (IXT) in children. DESIGN: Multicenter, randomized clinical trial. PARTICIPANTS: Three hundred fifty-eight children 3 to <11 years of age with previously untreated (except for refractive correction) IXT and near stereoacuity of 400 seconds of arc or better were enrolled. Intermittent exotropia met the following criteria: (1) IXT at distance OR constant exotropia at distance and either IXT or exophoria at near; (2) exodeviation (tropia or phoria) of at least 15 prism diopters (PD) at distance or near by prism and alternate cover test (PACT); and (3) exodeviation of at least 10 PD at distance by PACT. METHODS: Participants were assigned randomly either to observation (no treatment for 6 months) or to patching for 3 hours daily for 5 months, with a 1-month washout period of no patching before the 6-month primary outcome examination. MAIN OUTCOME MEASURES: The primary outcome was deterioration at either the 3-month or the 6-month follow-up visit, defined as: (1) constant exotropia measuring at least 10 PD at distance and near by simultaneous prism and cover test, and/or (2) near stereoacuity decreased by at least 2 octaves from baseline, both assessed by a masked examiner and confirmed by a retest. Participants who were prescribed any nonrandomized treatment without first meeting either deterioration criteria also were counted as having deteriorated. RESULTS: Of the 324 participants (91%) completing the 6-month primary outcome examination, deterioration occurred in 10 of the 165 participants (6.1%) in the observation group (3 of these 10 started treatment without meeting deterioration criteria) and in 1 of the 159 participants (0.6%) in the part-time patching group (difference, 5.4%; lower limit of 1-sided exact 95% confidence interval, 2.0%; P = 0.004, 1-sided hypothesis test). CONCLUSIONS: Deterioration of previously untreated childhood IXT over a 6-month period is uncommon with or without patching treatment. Although there is a slightly lower deterioration rate with patching, both management approaches are reasonable for treating children 3 to 10 years of age with IXT.

The incidence of pediatric dacryocystitis among a population-based cohort of infants with congenital nasolacrimal duct obstruction.

PURPOSE: To report the incidence, clinical characteristics, and outcomes of acute dacryocystitis among a large, population-based cohort of children born with congenital nasolacrimal duct obstruction (CNLDO) over a 10-year period. METHODS: This multicenter retrospective, population-based cohort study included all patients diagnosed with acute dacryocystitis in a cohort of patients diagnosed with CNLDO before age 5 years in Olmsted County, Minnesota, United States of America from January 1, 1995, through December 31, 2004. RESULTS: Of 1,998 patients with CNLDO, there were 70 cases (36 female [(51%)]) of acute dacryocystitis during the study, yielding an incidence rate of 243 per 100,000 children (95% CI, 170-316). Mean age at diagnosis was 9.0 months. Patients who developed dacryocystitis were significantly less likely to be born via C-section (OR = 0.29, P = 0.009). Less than half of patients with dacryocystitis were treated with oral/intravenous antibiotics (46%), but whose who were had a significantly higher odds of requiring probing (OR = 8.50, P = 0.004). Spontaneous CNLDO resolution was significantly less likely to occur in patients diagnosed with acute dacryocystitis compared with those without (OR = 2.46, P = 0.001). The median age of spontaneous resolution in the dacryocystitis group (6.0 months) was significantly older than the uncomplicated CNLDO group (P = 0.012). CONCLUSIONS: Pediatric acute dacryocystitis is an uncommon complication of CNLDO and is associated with both a lower likelihood of and older age at spontaneous resolution of CNLDO symptoms.

Incidence and sex differences of diabetes among youth: a 50-year population-based cohort study.

AIMS: Although the literature on childhood diabetes has traditionally focused on Type 1 diabetes (T1D), youth-onset Type 2 diabetes (T2D) and its associated morbidities have become increasingly prevalent. This study reports on the incidence and demographics of a population-based cohort of children diagnosed with diabetes over a 50-year period. METHODS: Medical records of patients < 22 years diagnosed with diabetes from January 1, 1970, through December 31, 2019, were retrospectively reviewed using the Rochester Epidemiology Project, a database of clinics and hospitals in Olmsted County, Minnesota. RESULTS: Of 606 children diagnosed with diabetes, 519 (85.6%) were diagnosed with T1D at a mean age of 10.9 ± 5.3 years. 87 (14.4%) were diagnosed with T2D at a mean age of 17.4 ± 3.4 years. The incidence of T2D increased 23-fold (p < 0.001) over the five-decade period (5 per 100,000 children/year) while T1D remained stable (26 per 100,000 children/year; p = 0.08). The mean body mass index at T2D diagnosis (35.5 kg/m2 ± 10.4) was significantly higher than in T1D (18.9 kg/m2 ± 4.6 [95% CI for difference 14.2-19.0]; p < 0.0001). Sixty-nine percent of children diagnosed with T2D were female, and the hazard ratio of developing diabetic retinopathy in females with T2D compared to males was 6.83 (95% CI 1.53-30.44; p = 0.012). CONCLUSIONS: The incidence of youth-onset T2D increased significantly over the 50-year period while the incidence of T1D remained stable. A higher proportion of females were diagnosed with youth-onset T2D. Females with T2D were more than six times likelier to develop diabetic retinopathy than males.

Appropriateness of Ophthalmology Recommendations From an Online Chat-Based Artificial Intelligence Model.

Objective: To determine the appropriateness of ophthalmology recommendations from an online chat-based artificial intelligence model to ophthalmology questions. Patients and Methods: Cross-sectional qualitative study from April 1, 2023, to April 30, 2023. A total of 192 questions were generated spanning all ophthalmic subspecialties. Each question was posed to a large language model (LLM) 3 times. The responses were graded by appropriate subspecialists as appropriate, inappropriate, or unreliable in 2 grading contexts. The first grading context was if the information was presented on a patient information site. The second was an LLM-generated draft response to patient queries sent by the electronic medical record (EMR). Appropriate was defined as accurate and specific enough to serve as a surrogate for physician-approved information. Main outcome measure was percentage of appropriate responses per subspecialty. Results: For patient information site-related questions, the LLM provided an overall average of 79% appropriate responses. Variable rates of average appropriateness were observed across ophthalmic subspecialties for patient information site information ranging from 56% to 100%: cataract or refractive (92%), cornea (56%), glaucoma (72%), neuro-ophthalmology (67%), oculoplastic or orbital surgery (80%), ocular oncology (100%), pediatrics (89%), vitreoretinal diseases (86%), and uveitis (65%). For draft responses to patient questions via EMR, the LLM provided an overall average of 74% appropriate responses and varied by subspecialty: cataract or refractive (85%), cornea (54%), glaucoma (77%), neuro-ophthalmology (63%), oculoplastic or orbital surgery (62%), ocular oncology (90%), pediatrics (94%), vitreoretinal diseases (88%), and uveitis (55%). Stratifying grades across health information categories (disease and condition, risk and prevention, surgery-related, and treatment and management) showed notable but insignificant variations, with disease and condition often rated highest (72% and 69%) for appropriateness and surgery-related (55% and 51%) lowest, in both contexts. Conclusion: This LLM reported mostly appropriate responses across multiple ophthalmology subspecialties in the context of both patient information sites and EMR-related responses to patient questions. Current LLM offerings require optimization and improvement before widespread clinical use.

Incidence and de novo mutation rate of Marfan syndrome and risk of ectopia lentis.

PURPOSE: To investigate the population-based incidence and de novo mutation rate of Marfan syndrome and risk of ectopia lentis. METHODS: Patients newly diagnosed with Marfan syndrome in Olmsted County, Minnesota, from January 1, 1976, through December 31, 2005, were identified through medical records review. Outcome measures were Marfan incidence, de novo mutation rate, risk of ectopia lentis. RESULTS: Marfan syndrome was identified in 17 patients during the 30-year period, yielding an incidence of 0.52 per 100,000 people/year (95% CI, 0.27-0.77). Mean age at diagnosis was 24.4 years (range, 1.7 year to 51.3 years). Nine patients (53%) were female. Of the 17, 5 (29%) were new mutations, with a calculated mutation rate of 3.8 ± 1.7 × 10-5. Four (24%) were diagnosed with ectopia lentis, including 3 at the time of their Marfan diagnosis. Of the 14 patients at risk for developing ectopia lentis after being diagnosed with Marfan syndrome, 1 (7%) developed it during a mean follow-up of 9 years (range, 0-6.4). Twelve (71%) were diagnosed with dilated ascending aorta during a mean follow-up of 13.2 years (range, 6.7 months to 28.9 years). CONCLUSIONS: Incidence and de novo mutation rate of Marfan syndrome in this population-based cohort was higher than prior reports. Ectopia lentis, whose prevalence in North America has not been reported previously, occurred in approximately one-fourth of study patients and more commonly around the time of initial Marfan diagnosis.

Psychosocial and mental health disorders among a population-based, case-control cohort of patients with congenital upper eyelid ptosis.

BACKGROUND/AIM: Recent studies have demonstrated adverse psychosocial and mental health disorders among children with ocular disorders. The mental health burden of children with simple congenital ptosis, however, is unknown. The purpose of this study was to compare the psychosocial and mental health findings of children with simple congenital ptosis with controls. METHODS: The medical records of all children (<19 years) diagnosed with simple congenital ptosis from 1 January 1965 through 31 December 2004 while residing in Olmsted County, Minnesota were retrospectively reviewed for psychosocial and mental health morbidity. One-to-one randomly selected age-matched and gender-matched controls from the same population were similarly reviewed. RESULTS: 81 children with ptosis were diagnosed at a mean age of 3.2 years (range, 1 month-16 years), 35 (43.2%) of whom were girls. An adverse psychosocial development was diagnosed in 41 (50.6%) patients with simple congenital ptosis monitored to a mean age of 21.4 years, compared with 26 (32.5%) controls (p=0.02). A mental illness was diagnosed in 31 (38.3%) patients with ptosis compared with 16 (20%) controls (p=0.01). Children with ptosis were 2.5 times more likely than controls to develop a mental illness and 2.1 times more likely to develop a psychosocial maladjustment. Patients with ptosis were also significantly more likely to have more mental health disorders (p=0.02) and a longer duration of psychotropic medication use (p=0.005). CONCLUSIONS: Children diagnosed with simple congenital ptosis in this population had significantly greater psychosocial and mental health morbidity compared with controls. Children with ptosis may benefit from early psychosocial intervention.

Characteristics of childhood intermittent exotropia with and without DVD.

Purpose: Although dissociated vertical deviation (DVD) is reported to occur rarely in children with intermittent exotropia (IXT), little is known regarding the clinical features of these children. The purpose of this study was to compare the demographic and clinical characteristics of children with intermittent exotropia and DVD to those without DVD. Methods: The medical records of all children diagnosed with intermittent exotropia at our institution from 1 January 2002, through 31 December 2018, who had 2 or more exams with 3 or more assessments of control, were retrospectively reviewed. Exotropic children with DVD were compared to those without DVD. Results: During the 17-year study period, 115 children met the inclusion criteria, of which 25 (21.7%) had DVD. Compared to the 90 exotropic children without DVD, children with IXT and DVD were more likely to have a motility disorder (p = .021), a worse mean distance control score (2.8 vs 2.4; p = .09), a larger mean angle of deviation (27.8 prism diopters [PD] vs 25.1 PD; p = .04), and a lower median stereopsis (200 secs vs 100 secs; p = .08). The children with DVD were more likely to have undergone surgery (p = .17) although there was no difference in the mean age at initial surgery between the two groups. Conclusions: The presence of dissociated vertical deviation in children with intermittent exotropia is associated with more motility disorders and worse binocular function compared to those without DVD. These children will likely require closer observation and earlier intervention.

Birth prevalence and characteristics of congenital corneal opacities.

PURPOSE/AIM: To report the birth prevalence and natural history of congenital corneal opacities among a population-based cohort of children. MATERIALS AND METHODS: The medical records of patients <5 years diagnosed with a congenital onset corneal opacity while residing in Olmsted County, Minnesota, from January 1, 1977, through December 31, 2016, were retrospectively reviewed. RESULTS: Fourteen patients were diagnosed with a congenital corneal opacity during the 40-year study period for a birth prevalence of 1 in 5188 live births. The mean age at diagnosis was 7.5 months (range 0-48 months) and 9 (64.3%) were males. Four patients had congenital glaucoma, 4 had limbal dermoids, 2 had sclerocornea, and 1 patient each had Descemet's tear from birth trauma, herpes simplex virus type 1 keratitis, corneal leukoma, and an undiagnosed scar. Six (42.8%) patients required treatment for their underlying corneal opacity including the four patients with congenital glaucoma. The other 8 (57.1%) patients had a clear central axis. Four (28.6%) of 14 patients required amblyopia therapy, and 4 (28.6%) developed strabismus. Four (28.6%) patients had associated systemic conditions. During a mean follow up of 5.4 years (range 1.3-27.0 years), the median best corrected visual acuity (BCVA) was logmar 0.16 (20/25) (range 20/20-hand motion) with one patient with unilateral BCVA less than 20/60 and one patient with bilateral BCVA less than 20/60. CONCLUSIONS: In this 40-year cohort, congenital corneal opacities were relatively rare and the result of a variety of disorders. Although amblyopia and strabismus occurred commonly, most patients had good visual outcomes.

Incidence and clinical characteristics of paediatric keratitis.

BACKGROUND/AIMS: To report the incidence and clinical characteristics of paediatric keratitis diagnosed over a 10-year period in a well-defined population. DESIGN: Retrospective, population-based study. METHODS: Setting: multicentre. POPULATION: patients (<19 years) diagnosed with keratitis as residents of Olmsted County from 1 January 2000, through 31 December 2009. MAIN OUTCOME MEASURES: calculated annual age-specific and gender-specific incidence rates, demographic information and initial and final visual acuity. RESULTS: A total of 294 diagnoses of keratitis occurred in 285 children during the 10-year period, yielding an incidence of 78.0 per 100 000 younger than 19 years (95% CI 69.0 to 87.1) or approximately 1 in 1282 children. The incidence increased throughout the 10-year study period (p<0.001). The mean age at diagnosis was 15.3 years (range, 0.2-18.9) and 172 (60.4%) were women. The observed forms included keratitis due to contact lens wear in 134 (45.6%), infectious keratitis in 72 (24.5%), keratitis not otherwise specified in 65 (22.1%) and keratitis sicca in 23 (7.8%). The visual acuity was reduced to ≤20/40 in 61 (21.4) of the 285 patients at the initial examination and in 24 (8.4%) at the final examination. Children with infectious keratitis had the poorest presenting vision and the best final vision, whereas the reverse was true for those with keratitis sicca. CONCLUSIONS: Keratitis, regardless of aetiology, was observed in approximately 1 in 1300 children by 19 years of age in this population-based cohort. Nearly half were related to contact lens wear and a decrease in vision to ≤ 20/40 occurred in 1 in 12 patients.

Incidence and clinical features of pediatric ocular trauma in a population-based cohort.

PURPOSE: To report the incidence and clinical characteristics of pediatric ocular and adnexal injuries diagnosed over a 10-year period in Olmsted County, Minnesota. METHODS: This multicenter retrospective, population-based cohort study included all patients <19 years of age in Olmsted County diagnosed with ocular or adnexal injuries from January 1, 2000, through December 31, 2009. RESULTS: A total of 740 ocular or adnexal injuries occurred during the study period, yielding an incidence of 203 (95% CI, 189-218) per 100,000 children. Median age at diagnosis was 10.0 years, and 462 (62.4%) were males. Injuries presented to the emergency department or urgent care setting most frequently (69.6%) and often occurred while outdoors (31.6%) during summer months (29.7%). Common injury mechanisms included blunt force (21.5%), foreign bodies (13.8%), and sports activities (13.0%). Isolated anterior segment injuries occurred in 63.5% of injuries. Ninety-nine patients (13.8%) had visual acuity of 20/40 or worse at initial examination, and 55 patients (7.7%) had visual acuity of 20/40 or worse at final examination. Twenty-nine injuries (3.9%) required surgical intervention. Significant risk factors for reduced visual acuity and/or the development of long-term complications include male sex, age ≥12 years, outdoor injuries, sport and firearm/projectile injury mechanism, and hyphema or posterior segment injury (P < 0.05). CONCLUSIONS: Most pediatric eye injuries are minor anterior segment injuries with infrequent long-lasting effects on visual development.

Incidence and distribution of ocular disorders in the first year of life.

PURPOSE: To describe the incidence and distribution of eye diseases affecting children in the first year of life in Olmsted County, Minnesota. METHODS: We conducted a population-based, retrospective medical record review of infants (≤1 year of age) residing in Olmsted County diagnosed with an ocular disorder from January 1, 2005, through December 31, 2014. RESULTS: A total of 4,223 infants were diagnosed with an ocular disorder, yielding an incidence of 20,242/100,000 births per year, or 1 in 4.9 live births (95% CI, 19,632-20,853). The median age at diagnosis was 3 months, and 2,179 (51.5%) were female. The most common diagnoses included conjunctivitis, in 2,175 (51.5%), nasolacrimal duct obstruction, in 1,432 (33.6%), and pseudostrabismus, in 173 (4.1%). Visual acuity was decreased in one or both eyes in 23 (0.5%) infants because of strabismus in 10 (43.5%) and cerebral visual impairment in 3 (13.0%). A majority of the infants (3,674 [86.9%]) were diagnosed and managed by a primary care provider, and 549 (13.0%) were evaluated and/or managed by an eye care provider. CONCLUSIONS: Although ocular disorders occurred in 1 in 5 infants in this cohort, most conditions were evaluated and managed by primary care providers. Understanding the incidence and distribution of ocular diseases among infants is useful for planning clinical resources.