Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.

Axenfeld-Rieger Syndrome (ARS) type 1 is a rare autosomal dominant condition characterized by anterior chamber anomalies, umbilical defects, dental hypoplasia, and craniofacial anomalies, with Meckel's diverticulum in some individuals. Here, we describe a clinically ascertained female of childbearing age with ARS for whom clinical targeted sequencing and deletion/duplication analysis followed by clinical exome and genome sequencing resulted in no pathogenic variants or variants of unknown significance in PITX2 or FOXC1. Advanced bioinformatic analysis of the genome data identified a complex, balanced rearrangement disrupting PITX2. This case is the first reported intrachromosomal rearrangement leading to ARS, illustrating that for patients with compelling clinical phenotypes but negative genomic testing, additional bioinformatic analysis are essential to identify subtle genomic abnormalities in target genes.

De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype.

An infant was referred for evaluation of congenital glaucoma and corneal clouding. In addition, he had a pelvic kidney, hypotonia, patent ductus arteriosus, abnormal pinnae, and developmental delay. Exome sequencing identified a previously unpublished de novo single nucleotide insertion in PBX1 c.400dupG (NM_002585.3), predicted to cause a frameshift resulting in a truncated protein with loss of function (p.Ala134Glyfs*65). Identification of this loss of function variant supports the diagnosis of congenital anomalies of the kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (CAKUTHED). Here, we propose glaucoma as an extra-renal manifestation associated with PBX1-related disease due to the relationship of PBX1 with MEIS1, MEIS2, and FOXC1 transcription factors associated with eye development.

Outcomes of Bilateral Cataract Surgery in Infants 7 to 24 Months of Age Using the Toddler Aphakia and Pseudophakia Treatment Study Registry.

PURPOSE: To evaluate outcomes of bilateral cataract surgery in children aged 7 to 24 months and compare rates of adverse events (AEs) with other Toddler Aphakia and Pseudophakia Study (TAPS) registry outcomes. DESIGN: Retrospective clinical study at 10 Infant Aphakia Treatment Study (IATS) sites. Statistical analyses comparing this cohort with previously reported TAPS registry cohorts. PARTICIPANTS: Children enrolled in the TAPS registry between 2004 and 2010. METHODS: Children underwent bilateral cataract surgery with or without intraocular lens (IOL) placement at age 7 to 24 months with 5 years of postsurgical follow-up. MAIN OUTCOME MEASURES: Visual acuity (VA), occurrence of strabismus, AEs, and reoperations. RESULTS: A total of 40 children (76 eyes) who underwent bilateral cataract surgery with primary posterior capsulectomy were identified with a median age at cataract surgery of 11 months (7-23); 68% received a primary IOL. Recurrent visual axis opacification (VAO) occurred in 7.5% and was associated only with the use of an IOL (odds ratio, 6.10; P = 0.005). Glaucoma suspect (GS) was diagnosed in 2.5%, but no child developed glaucoma. In this bilateral cohort, AEs (8/40, 20%), including glaucoma or GS and VAO, and reoperations occurred in a similar proportion to that of the published unilateral TAPS cohort. When analyzed with children aged 1 to 7 months at bilateral surgery, the incidence of AEs and glaucoma or GS correlated strongly with age at surgery (P = 0.011/0.004) and glaucoma correlated with microcornea (P = 0.040) but not with IOL insertion (P = 0.15). CONCLUSIONS: Follow-up to age 5 years after bilateral cataract surgery in children aged 7 to 24 months reveals a low rate of VAO and very rare glaucoma or GS diagnosis compared with infants with cataracts operated at < 7 months of age despite primary IOL implantation in most children in the group aged 7 to 24 months. The use of an IOL increases the risk of VAO irrespective of age at surgery.

Impact of Standardized Prescribing Guidelines on Postoperative Opioid Prescriptions after Ophthalmic Surgery.

PURPOSE: To determine the effect of implementing standardized opioid prescribing guidelines on prescription patterns for acute pain after ophthalmic surgery in opioid-naïve patients. DESIGN: Quality improvement study. PARTICIPANTS: Ophthalmic surgeons in an academic department of ophthalmology. METHODS: Postoperative opioid prescribing patterns were compared before and after the implementation of standardized opioid prescribing guidelines for ophthalmic surgery at an academic institution. Only prescriptions provided to opioid-naïve patients 18 years of age or older were included. Surgeons reached a consensus for standardized prescribing guidelines appropriate for the type of surgery within their subspecialty. Guidelines were disseminated in conjunction with postsurgical pain management education to all ophthalmologists in the department, including trainees. The frequency of opioid prescriptions, the quantity of opioid prescribed (converted to oral morphine equivalent [OME]), and opioid prescription refill rates were compared before and after intervention. MAIN OUTCOME MEASURES: Prescriptions with more than 80 OME, frequency of opioid prescriptions, mean OME, and refill rates. RESULTS: Of 5349 ophthalmic surgeries performed during the 2 assessment periods, 196 (3.7%) were associated with opioid prescriptions for acute postoperative pain. The frequency of opioid prescriptions decreased to 3.0% (81/2736) after intervention compared with 4.4% (115/2613) before intervention (P = 0.005). When opioids were prescribed, the mean OME decreased from 93 (range, 27-500) before intervention to 42 (range, 14-100) after intervention (P = 0.003). The number of prescriptions for more than 80 OME decreased from 56 (2.1%) before intervention to 4 (0.1%) after intervention (P < 0.001). Based on the standardized guidelines, 103 of the 115 (89.6%) preintervention opioid prescriptions would not have adhered to the guidelines, whereas 39 of the 81 (48.1%) postintervention prescriptions did not adhere to the guidelines (P < 0.001). The proportion of refill prescriptions did not differ before and after intervention (P = 0.44). CONCLUSIONS: The process of discussing postsurgical pain management and developing standardized opioid prescribing guidelines reduces overprescribing of opioids after ophthalmic surgery without increasing refill rates. Continued education is required to improve adherence to the prescribing guidelines further.

Outcomes of Bilateral Cataracts Removed in Infants 1 to 7 Months of Age Using the Toddler Aphakia and Pseudophakia Treatment Study Registry.

PURPOSE: To evaluate outcomes of bilateral cataract surgery in infants 1 to 7 months of age performed by Infant Aphakia Treatment Study (IATS) investigators during IATS recruitment and to compare them with IATS unilateral outcomes. DESIGN: Retrospective case series review at 10 IATS sites. PARTICIPANTS: The Toddler Aphakia and Pseudophakia Study (TAPS) is a registry of children treated by surgeons who participated in the IATS. METHODS: Children underwent bilateral cataract surgery with or without intraocular lens (IOL) placement during IATS enrollment years 2004 through 2010. MAIN OUTCOME MEASURES: Visual acuity (VA), strabismus, adverse events (AEs), and reoperations. RESULTS: One hundred seventy-eight eyes (96 children) were identified with a median age of 2.5 months (range, 1-7 months) at the time of cataract surgery. Forty-two eyes (24%) received primary IOL implantation. Median VA of the better-seeing eye at final study visit closest to 5 years of age with optotype VA testing was 0.35 logarithm of the minimum angle of resolution (logMAR; optotype equivalent, 20/45; range, 0.00-1.18 logMAR) in both aphakic and pseudophakic children. Corrected VA was excellent (<20/40) in 29% of better-seeing eyes, 15% of worse-seeing eyes. One percent showed poor acuity (≥20/200) in the better-seeing eye, 12% in the worse-seeing eye. Younger age at surgery and smaller (<9.5 mm) corneal diameter at surgery conferred an increased risk for glaucoma or glaucoma suspect designation (younger age: odds ratio [OR], 1.44; P = 0.037; and smaller cornea: OR, 3.95; P = 0.045). Adverse events also were associated with these 2 variables on multivariate analysis (younger age: OR, 1.36; P = 0.023; and smaller cornea: OR, 4.78; P = 0.057). Visual axis opacification was more common in pseudophakic (32%) than aphakic (8%) eyes (P = 0.009). Unplanned intraocular reoperation occurred in 28% of first enrolled eyes (including glaucoma surgery in 10%). CONCLUSIONS: Visual acuity after bilateral cataract surgery in infants younger than 7 months is good, despite frequent systemic and ocular comorbidities. Although aphakia management did not affect VA outcome or AE incidence, IOL placement increased the risk of visual axis opacification. Adverse events and glaucoma correlated with a younger age at surgery and glaucoma correlated with the presence of microcornea.

Outcomes of Unilateral Cataracts in Infants and Toddlers 7 to 24 Months of Age: Toddler Aphakia and Pseudophakia Study (TAPS).

PURPOSE: To evaluate outcomes of unilateral cataract surgery in children 7 to 24 months of age. DESIGN: Retrospective case series at 10 Infant Aphakia Treatment Study (IATS) sites. PARTICIPANTS: The Toddler Aphakia and Pseudophakia Study is a registry of children treated by surgeons who participated in the IATS. METHODS: Children underwent unilateral cataract surgery with or without intraocular lens (IOL) placement during the IATS enrollment years of 2004 and 2010. MAIN OUTCOME MEASURES: Intraoperative complications, adverse events (AEs), visual acuity, and strabismus. RESULTS: Fifty-six children were included with a mean postoperative follow-up of 47.6 months. Median age at cataract surgery was 13.9 months (range, 7.2-22.9). Ninety-two percent received a primary IOL. Intraoperative complications occurred in 4 patients (7%). At 5 years of age, visual acuity of treated eyes was very good (≥20/40) in 11% and poor (≤20/200) in 44%. Adverse events were identified in 24%, with a 4% incidence of glaucoma suspect. An additional unplanned intraocular surgery occurred in 14% of children. Neither AEs nor intraocular reoperations were more common for children with surgery at 7 to 12 months of age than for those who underwent surgery at 13 to 24 months of age (AE rate, 21% vs. 25% [P = 0.60]; reoperation rate, 13% vs. 16% [P = 1.00]). CONCLUSIONS: Although most children underwent IOL implantation concurrent with unilateral cataract removal, the incidence of complications, reoperations, and glaucoma was low when surgery was performed between 7 and 24 months of age and compared favorably with same-site IATS data for infants undergoing surgery before 7 months of age. Our study showed that IOL implantation is relatively safe in children older than 6 months and younger than 2 years.

A novel explanation of corneal clouding in a bone marrow transplant-treated patient with Hurler syndrome.

One common complication of mucopolysaccharidosis I-Hurler (MPS1-H) is corneal clouding, which occurs despite current treatments, including bone marrow transplantation. Human corneas were obtained from a 14 year old subject with MPS1-H and visual disability from progressive corneal clouding despite a prior bone marrow transplant at age 2. This was compared to a cornea from a 17 year old donated to our eye bank after his accidental death. The corneas were analyzed microscopically after staining with Alcian blue, antibodies to collagen I, IV, VI, and α-smooth muscle actin. Differences in levels of expression of the indicated molecules were assessed. Corneas from Hurler and control mice were examined similarly to determine potential mechanistic overlap. The MPS1-H subject cornea showed elevations in mucopolysaccharide deposition. The MPS1-H and Hurler mice corneas showed increased and disorganized expression of collagen I and IV relative to the control corneas. The MPS1-H corneas also showed increased and disordered expression of collagen VI. Positive expression of α-smooth muscle actin indicated myofibroblast conversion within the MPS1-H cornea in both the patient and mutant mouse material compared to normal human and control mouse cornea. Increased deposition of collagens and smooth muscle actin correlate with corneal clouding, providing a potential mechanism for corneal clouding despite bone marrow transplantation in MPS1-H patients. It might be possible to prevent or slow the onset of corneal clouding by treating the cornea with drugs known to prevent myofibroblast conversion.

Novel superior oblique anterior fiber plication with or without adjustable sliding knot for extorsion.

PURPOSE: To report a novel surgical technique to correct excyclotropia, consisting of a superior oblique anterior fibers plication (SOAFP) with or without a hemihangback anterior knot, allowing access for postoperative adjustment. METHODS: A retrospective interventional case series was conducted. Fourteen patients, 21-92 years of age, underwent SOAFP (18 eyes, 14 eyes on adjustable), at the Mayo Clinic in Rochester, Minnesota. SOAFP was the only procedure performed in 12 eyes; in 6 it was performed in conjunction with up to four horizontal rectus muscle recession, resection, and/or plication. Ocular alignment was assessed with prism and alternate cover and double Maddox rod tests; preoperatively, at initial and final (closest to 6-8 weeks) postoperative visits. RESULTS: Preoperative torsion ranged from 2° to 30° of extorsion (mean, 10.14 ± 7.01). A SOAFP of 2-30 mm (mean, 8.93 ± 5.63) was performed. At the initial postoperative examination, mean intorsional shift was 11.18 ± 7.37, accounting for 1.86° ± 1.04° of correction per millimeter of plication. Three eyes were adjusted after the initial visit to obtain a stronger plication effect targeting of 5° intorsion. At the final visit, 61 ± 23 days postoperatively, mean extorsion was 1.21° ± 2.29°, ranging from 5° of extorsion to 3 of intorsion. Mean final intorsional shift was 9.14 ± 7.53°, accounting for a 1.16 ± 0.50° of correction per millimeter of plication. Of our 14 patients, 13 had improvement in diplopia. CONCLUSIONS: In our study cohort, SOAFP allowed for targeted and easily adjustable correction of extorsion.

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.

One-year strabismus outcomes in the Infant Aphakia Treatment Study.

OBJECTIVE: To evaluate the characteristics of strabismus in infants who underwent cataract surgery with and without intraocular lens (IOL) implantation. DESIGN: Secondary outcome analysis in a prospective, randomized clinical trial. PARTICIPANTS: The Infant Aphakia Treatment Study is a randomized, multicenter (n = 12), clinical trial comparing treatment of aphakia with a primary IOL or contact lens in 114 infants with a unilateral congenital cataract. INTERVENTION: Infants underwent cataract surgery with or without placement of an IOL. MAIN OUTCOME MEASURES: The proportion of patients in whom strabismus developed during the first 12 months of follow-up was calculated using the life-table method and was compared across treatment groups and age strata using a log-rank test. RESULTS: Strabismus developed within the first 12 months of follow-up in 38 pseudophakic infants (life-table estimate, 66.7%) and 42 infants (life-table estimate, 74.5%) treated with contact lenses (P = 0.59). The younger cohort (<49 days) at the time of surgery demonstrated less strabismus (29 of 50; life-table estimate, 58.0%) than the older cohort (≥ 49 days; 51 of 64; life-table estimate, 80.0%; P<0.01). CONCLUSIONS: Intraocular lens placement does not prevent the early development of strabismus after congenital cataract surgery. However, strabismus was less likely to develop in infants whose cataract was removed at an earlier age. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.

Role of Intraocular Lens Implantation in Children.

PURPOSE: To summarize recent literature and provide an update on the role of intraocular lens implantation in children. DESIGN: AOC/AACO/AAO 2022 Symposium Summary. INTERVENTION: None. RESULTS: Literature review surrounding the use of intraocular lenses in children. Attention was given to multicenter study efforts including the Infant Aphakia Treatment Study, the Toddler Aphakia and Pseudophakia Study, and the Pediatric Eye Disease Investigator Group Cataract Registry. CONCLUSIONS: Intraocular lenses are a valuable tool in the care of children with lens abnormalities. Recent studies and advancements in fixation techniques have complimented our care and highlighted age and ocular dependent risks. Thorough initial clinical assessment and long-term postoperative management are critical in maximizing 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.

Incidence of Glaucoma-Related Adverse Events in the First 5 Years After Pediatric Lensectomy.

Importance: Glaucoma can develop following cataract removal in children. Objective: To assess the cumulative incidence of glaucoma-related adverse events (defined as glaucoma or glaucoma suspect) and factors associated with risk of these adverse events in the first 5 years after lensectomy prior to 13 years of age. Design, Setting, and Participants: This cohort study used longitudinal registry data collected at enrollment and annually for 5 years from 45 institutional and 16 community sites. Participants were children aged 12 years or younger with at least 1 office visit after lensectomy from June 2012 to July 2015. Data were analyzed from February through December 2022. Exposures: Usual clinical care after lensectomy. Main Outcomes and Measures: The main outcomes were cumulative incidence of glaucoma-related adverse events and baseline factors associated with risk of these adverse events. Results: The study included 810 children (1049 eyes); 443 eyes of 321 children (55% female; mean [SD] age, 0.89 [1.97] years) were aphakic after lensectomy, and 606 eyes of 489 children (53% male; mean [SD] age, 5.65 [3.32] years) were pseudophakic. The 5-year cumulative incidence of glaucoma-related adverse events was 29% (95% CI, 25%-34%) in 443 eyes with aphakia and 7% (95% CI, 5%-9%) in 606 eyes with pseudophakia; 7% (95% CI, 5%-10%) of aphakic eyes and 3% (95% CI, 2%-5%) of pseudophakic eyes were diagnosed as glaucoma suspect. Among aphakic eyes, a higher risk for glaucoma-related adverse events was associated with 4 of 8 factors, including age less than 3 months (vs ≥3 months: adjusted hazard ratio [aHR], 2.88; 99% CI, 1.57-5.23), abnormal anterior segment (vs normal: aHR, 2.88; 99% CI, 1.56-5.30), intraoperative complications at time of lensectomy (vs none; aHR, 2.25; 99% CI, 1.04-4.87), and bilaterality (vs unilaterality: aHR, 1.88; 99% CI, 1.02-3.48). Neither of the 2 factors evaluated for pseudophakic eyes, laterality and anterior vitrectomy, were associated with risk of glaucoma-related adverse events. Conclusions and Relevance: In this cohort study, glaucoma-related adverse events were common after cataract surgery in children; age less than 3 months at surgery was associated with elevated risk of the adverse events in aphakic eyes. Children with pseudophakia, who were older at surgery, less frequently developed a glaucoma-related adverse event within 5 years of lensectomy. The findings suggest that ongoing monitoring for the development of glaucoma is needed after lensectomy at any age.

Normal exophthalmometry measurements in a United States pediatric population.

PURPOSE: The normal distribution of exophthalmometry measurements in a U.S. pediatric population was determined as a reference for clinical practice. METHODS: This was a cross-sectional study, in which 673 normal subjects, between 1 and 17 years of age, randomly selected from patients presenting to our institution, were measured with an exophthalmometer. Normal volunteers also participated at a booth at the annual state fair. Subjects were excluded for a prior history of orbital tumor, craniofacial anomaly, thyroid disease, orbital trauma, or inability to tolerate the measurement. RESULTS: A total of 673 subjects (52% female) with a mean age of 9.6 years were studied. There was no difference in exophthalmometric measurements between male and female subjects. Mean exophthalmometric measurements increased with age: less than 4 years old (13.2 mm), 5-8 years old (14.4 mm), 9-12 years old (15.2 mm), and 13-17 years old (16.2 mm). Asymmetric measurements occurred in 100 (14.9%) subjects, with a 2-mm maximal difference in 2 subjects. CONCLUSION: Exophthalmometric measurements vary with age among the pediatric population. Reference data are presented for each age group in a U.S. cohort.

Orbital anatomy magnetic resonance imaging in diplopic versus non-diplopic patients after glaucoma drainage device placement.

PURPOSE: New-onset persistent diplopia has become a common complication after glaucoma drainage device (GDD) placement. Understanding the orbital anatomy of such patients may provide information regarding risk of diplopia, GDD selection, and post-operative management. The purpose of this study was to examine the orbital anatomic differences in diplopic and non-diplopic patients after GDD implantation using high-resolution MRI. METHODS: Seven eyes (N = 4 with diplopia and N = 3 without diplopia after GDD placement) of seven patients that had undergone placement of Baerveldt 250 (B250), Baerveldt 350 (B350), or Ahmed FP7 (FP7) GDD were prospectively enrolled at a single institution. All patients underwent a 3.0T orbital MRI with 3D volumetric T1 and T2 weighted sequence. Images were analyzed for orbital volume, axial length, orbital distances, presence of superior rectus-lateral rectus (SR-LR) band, position of GDD, and SR-LR angles. RESULTS: Patients with diplopia had smaller mean ± SD orbital axial (911.5 ± 111.8 mm3 vs 931.7 ± 79.7 mm3) and coronal volumes (1162.5 ± 145.5 mm3 vs 1180 ± 34.6 mm3) compared to non-diplopic patients. Average orbital rim distances were larger for the diplopic group. The SR-LR displacement angle for diplopic patients was larger (101.6° ± 8.1 vs 94.7° ± 17.6) while the SR-LR quadrantic angle (86.6° ± 4.2 vs 89.1° ± 4.3) was smaller. SR-LR band was present and intact in all patients. GDD malpositioning was not evident in any patient. CONCLUSION: The decreased orbital axial and coronal volumes as well as increased orbital rim distances in diplopic patients suggests the need for further studies to understand the role of orbital anatomy in occurrence of diplopia. Dynamic MRI imaging may be helpful in identifying differences in extraocular muscle function that reveal an etiology of diplopia in patients with GDD implantation.

Applying Normal PedEyeQ Thresholds to Assess Eye-related Quality of Life among Children with Strabismus.

PURPOSE: To determine proportions of children with strabismus with below-normal Pediatric Eye Questionnaire (PedEyeQ) scores. METHODS: Ninety-eight children with strabismus (70 aged 5-11 years; 28 aged 12-17 years) were evaluated. Children completed the Child 5-11 or 12-17 PedEyeQ (Functional Vision, Bothered by Eyes/vision, Social, and Frustration/worry domains). Parents completed the Proxy (same domains plus Eye Care) and Parent PedEyeQ (Impact on Parent and Family, Worry about Child's Eye Condition, Worry about Child's Self-perception and Interactions, and Worry about Functional Vision domains). Previously published normal (5th percentile) thresholds were applied to calculate proportions with below-normal scores for each domain. RESULTS: For the Child PedEyeQ more than 20% of 5- to 11-year-olds scored below normal, on all but the Social domain, whereas more than 50% of 12- to 17-year-olds scored below normal on all domains. On the Proxy PedEyeQ, more than 50% scored below normal on all domains when parents reported on 5- to 11-year-olds and 12- to 17-year-olds. For the Parent PedEyeQ, more than 50% of the parents of both 5- to 11-year-olds and 12- to 17-year-olds scored below normal on all domains. CONCLUSIONS: The majority of children with strabismus have below-normal PedEyeQ scores, particularly children aged 12-17 years.

Accuracy of the International Classification of Diseases, 9th Revision for Identifying Infantile Eye Disease.

PURPOSE: To determine the predictive value of International Classification of Diseases, 9th Revision (ICD-9) codes for identifying infantile eye diagnoses. METHODS: Population-based retrospective cohort study of all residents of Olmsted County, Minnesota diagnosed at ≤1 year of age with an ocular disorder. The medical records of all infants diagnosed with any ocular disorder from January 1, 2005, through December 31, 2014, were identified. To assess ICD-9 code accuracy, the medical records of all diagnoses with ≥20 cases were individually reviewed and compared to their corresponding ICD-9 codes. Main outcome measures included positive predictive value (PPV), negative predictive value (NPV), sensitivity, and specificity of ICD-9 codes. RESULTS: In a cohort of 5,109 infants with ≥1 eye-related ICD-9 code, 10 ocular diagnoses met study criteria. The most frequent diagnoses were conjunctivitis (N = 1,695) and congenital nasolacrimal duct obstruction (N = 1,250), while the least common was physiologic anisocoria (N = 23). The PPVs ranged from 8.3% to 88.0%, NPVs from 96.3% to 100%, sensitivity from 3.0% to 98.7%, and specificity from 72.6% to 99.9%. ICD-9 codes were most accurate at identifying physiologic anisocoria (PPV: 88.0%) and least accurate at identifying preseptal cellulitis (PPV: 8.3%). In eye specialists versus non-eye specialists, there was a significant difference in PPV of ICD-9 codes for conjunctivitis (26.8% vs. 63.9%, p < .001), pseudostrabismus (85.9% vs. 25.0%, p < .001), and physiologic anisocoria (95.5% vs. 33.3%, p = .002). CONCLUSION: The predictive value of ICD-9 codes for capturing infantile ocular diagnoses varied widely in this cohort. These findings emphasize the limitations of database research methodologies that solely utilize claims data to identify pediatric eye diseases.Abbreviations/Acronyms PPV: positive predictive value; NPV: negative predictive value; CNLDO: congenital nasolacrimal duct obstruction.