Aplasia of the Optic Nerve: A Report of Seven Cases.

Optic nerve aplasia (ONA) is a rare congenital anomaly with a limited number of published reports. A retrospective review was performed on seven patients with ONA seen during 2004-2017. Patient's ocular and extraocular manifestations, imaging findings, and clinical course were described. Magnetic resonance imaging (MRI) showed anomalies of the optic chiasm and tracts and other central nervous system involvement. In conclusion, in addition to thorough ophthalmic examinations, MRI is important in evaluating and diagnosing ONA. The patients need to be monitored for both ocular and extraocular concerns.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms with associated features including intellectual disability. Here, we report the identification of mutations in transport protein particle complex 11 (TRAPPC11) in three individuals of a consanguineous Syrian family presenting with LGMD and in five individuals of Hutterite descent presenting with myopathy, infantile hyperkinetic movements, ataxia, and intellectual disability. By using a combination of whole-exome or genome sequencing with homozygosity mapping, we identified the homozygous c.2938G>A (p.Gly980Arg) missense mutation within the gryzun domain of TRAPPC11 in the Syrian LGMD family and the homozygous c.1287+5G>A splice-site mutation resulting in a 58 amino acid in-frame deletion (p.Ala372_Ser429del) in the foie gras domain of TRAPPC11 in the Hutterite families. TRAPPC11 encodes a component of the multiprotein TRAPP complex involved in membrane trafficking. We demonstrate that both mutations impair the binding ability of TRAPPC11 to other TRAPP complex components and disrupt the Golgi apparatus architecture. Marker trafficking experiments for the p.Ala372_Ser429del deletion indicated normal ER-to-Golgi trafficking but dramatically delayed exit from the Golgi to the cell surface. Moreover, we observed alterations of the lysosomal membrane glycoproteins lysosome-associated membrane protein 1 (LAMP1) and LAMP2 as a consequence of TRAPPC11 dysfunction supporting a defect in the transport of secretory proteins as the underlying pathomechanism.

A Century of Board Directors.

The selection of directors of the American Board of Ophthalmology (ABO) initially was carried out by the 3 founding organizations of the ABO: the American Medical Association, the American Ophthalmological Society, and the American Academy of Ophthalmology and Otolaryngology. Since 1982, the ABO has chosen its own directors and, in 2001, began adding public directors. It is only in recent years that women comprise an increasing proportion of ABO directors.

Ocular findings in pediatric turner syndrome.

OBJECTIVE: Turner syndrome (TS) is associated with abnormalities across several organ systems, including the visual system. There is a relative paucity of literature describing ophthalmic manifestations of TS. We sought to investigate eye manifestations in our cross-sectional population of pediatric TS patients. METHODS: All patients managed by the TS program of a tertiary children's hospital were identified. Patients with documentation of at least one eye exam were included for analysis. Chart review was retrospectively performed to identify all documented ocular abnormalities as well as patient demographics, including TS karyotype. Statistical analysis was performed to identify any association between karyotype and ocular abnormality. RESULTS: A total of 187 patients with TS were identified. The mean age of the cohort was 14.3 ± 7.2 years. Ametropia was the most common ocular abnormality, occurring in 79 patients (42%), followed by strabismus in 25 (13%). Of the patients with strabismus, 17 had exotropia and 8 had esotropia, with only 2 patients requiring surgical intervention. Posterior segment abnormalities were identified in five patients without accompanying visual deficits. Two patients had ocular tumors: one with retinoblastoma and one with retinal astrocytic hamartoma. There was no association between TS karyotype and occurrence of ocular abnormalities. CONCLUSION: Ophthalmic manifestations of TS were common, particularly ametropia and strabismus. Management of strabismus was conservative in the vast majority of patients. Ocular manifestations were not associated with TS karyotype. Early screening and routine ophthalmic evaluation of patients with TS is needed to prevent progression of potentially vision-threatening abnormalities.

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

Optic atrophy (OA) and sensorineural hearing loss (SNHL) are key abnormalities in several syndromes, including the recessively inherited Wolfram syndrome, caused by mutations in WFS1. In contrast, the association of autosomal dominant OA and SNHL without other phenotypic abnormalities is rare, and almost exclusively attributed to mutations in the Optic Atrophy-1 gene (OPA1), most commonly the p.R445H mutation. We present eight probands and their families from the US, Sweden, and UK with OA and SNHL, whom we analyzed for mutations in OPA1 and WFS1. Among these families, we found three heterozygous missense mutations in WFS1 segregating with OA and SNHL: p.A684V (six families), and two novel mutations, p.G780S and p.D797Y, all involving evolutionarily conserved amino acids and absent from 298 control chromosomes. Importantly, none of these families harbored the OPA1 p.R445H mutation. No mitochondrial DNA deletions were detected in muscle from one p.A684V patient analyzed. Finally, wolframin p.A684V mutant ectopically expressed in HEK cells showed reduced protein levels compared to wild-type wolframin, strongly indicating that the mutation is disease-causing. Our data support OA and SNHL as a phenotype caused by dominant mutations in WFS1 in these additional eight families. Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1. Our findings suggest that patients who are heterozygous for WFS1 missense mutations should be carefully clinically examined for OA and other manifestations of Wolfram syndrome.

Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene.

PURPOSE: Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the NDP gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease. OBSERVATIONS: A retrospective chart review of the patient's ocular and systemic findings and imaging results was performed. The patient had received genetic testing, including mutational analysis of targeted genes associated with retrolental masses. The patient had a comprehensive eye exam for bilateral leukocoria, demonstrating large retrolental masses, anterior polar cataracts, stretched ciliary processes, and roving eye movements. B-scan ultrasonography and magnetic resonance imaging indicated total, funnel-shaped retinal detachments, which is a unique retinal configuration in Norrie disease. Genetic testing confirmed deletion of the coding region of all three exons in the NDP gene, which confirmed Norrie disease. He has not shown any extraocular involvement to date. CONCLUSIONS AND IMPORTANCE: This is a case demonstrating the association between deletion of the coding region NDP gene and Norrie disease. The phenotypical variation of this disease warrants further studies of genotype-phenotype correlations and mutations of the NDP gene.

The Long-term Visual Outcomes of Primary Congenital Glaucoma.

PURPOSE: To evaluate the long-term visual outcomes of ab externo trabeculotomy for primary congenital glaucoma (PCG) at a single pediatric ophthalmology center. METHODS: In this retrospective single-center case series, data from 63 eyes of 40 patients who underwent ab externo trabeculotomy between September 2006 and June 2018 were included. The data were analyzed for best corrected visual acuity (BCVA), stereopsis, and surgical success. Kaplan-Meier analysis was performed using the surgical success criteria defined as intraocular pressure (IOP) ≤ 21 mmHg and ≥ 20% below baseline without the need for additional glaucoma surgery. RESULTS: BCVA at the time of diagnosis was 0.37 ± 0.48 logMAR, which changed to 0.51 ± 0.56 logMAR at the final follow-up (P = 0.08). Twenty-five percent of patients had BCVA equal to or better than 20/40 at the final visit. The mean refraction at baseline was -4.78 ± 5.87 diopters, which changed to less myopic refraction of -2.90 ± 3.83 diopters at the final visit. Optical correction was prescribed in 66% of eyes at the final visit. The average final stereopsis was 395.33 sec of arc. The linear regression model showed a significant association between the surgery success rate and final BCVA as well as stereoacuity (P-values: 0.04 and 0.03, respectively). Intraocular pressure (IOP) decreased significantly from 29.79 ± 7.67 mmHg at baseline to 16.13 ± 3.41 mmHg at the final follow-up (P = 0.001). CONCLUSION: Patients with PCG can achieve an acceptable visual acuity and stereoacuity, particularly in cases of timely intervention and close follow-up.

Preventing corneal abrasions in critically ill children receiving neuromuscular blockade: a randomized, controlled trial.

OBJECTIVE: To determine the incidence of corneal abrasions in critically ill children requiring neuromuscular blockade (NMB) and to determine whether a moisture chamber over the eye is more effective in preventing corneal abrasions compared with standard therapy. DESIGN: Randomized controlled clinical trial. SETTING: Three pediatric intensive care units at two free-standing, university-affiliated children's hospitals. PATIENTS: Consecutive intubated, mechanically ventilated patients receiving NMB <36 hours, 2 weeks to 18 years of age. INTERVENTION: After confirming the absence of a corneal abrasion, patients' eyes were randomized to either control (Q6H lubrication and eye closure) or treatment (Q6H lubrication, eyelid closure and moisture chamber). Eyes were examined daily for 3 days then every other day until NMB was discontinued, a corneal abrasion developed, or on study day 9. Data were analyzed on an intention-to-treat basis. MEASUREMENTS AND MAIN RESULTS: Two hundred thirty-seven patients were enrolled. Thirty patients exited the study before randomization (17 upon confirmation of a corneal abrasion on initial examination [7%; 95% confidence interval 4%-11%]; 12 upon discontinuation of NMB; 1 patient death). The remaining 207 patients were randomized and evaluated twice (median; interquartile range [IQR] 1-4 observations). Twenty-one patients developed a corneal abrasion over the course of the study (10%; 95%confidence interval 6%-15%). Median time from enrollment to abrasion was 2 days (IQR 1-3 days). The incidence of corneal abrasion was not different between the patient's control and treatment eyes; specifically, eight corneal abrasions developed in the control eye, five corneal abrasions in the treatment eye, and eight corneal abrasions in both eyes (McNemar's test; p = 0.58). CONCLUSIONS: The occurrence of corneal abrasions in critically ill children receiving NMB is not trivial. The additional use of a moisture chamber over the eye was no more effective than Q6H lubrication and eye closure alone in preventing corneal abrasions in this at-risk patient group.

Imaging of congenital toxoplasmosis macular scars with optical coherence tomography.

PURPOSE: The purpose of this study is to document the appearance of macular toxoplasmosis scars with the high-resolution cross-sectional retinal imaging technique of optical coherence tomography (OCT) and investigate whether a correlation exists between the morphology of the toxoplasmosis scars, the OCT images, and visual acuity. METHODS: In this retrospective observational case series, fundus photos were taken of the macular lesions that were also documented by OCT. Photos were digitized for the purpose of sizing lesions. All images were classified by the authors. RESULTS: There were 10 consecutive patients (13 eyes) whose average age is 13.0 years. Macular lesions ranged from 1.6 mm2 to 20.2 mm2. OCT features included retinal thinning, retinal pigment epithelial hyperreflectivity, excavation, intraretinal cysts, and fibrosis. Patients with better than expected vision had either parafoveal lesions or an intact neurosensory layer. CONCLUSION: The most characteristic OCT features in this young population were prominent retinal thinning, retinal pigment epithelium hyperreflectivity, and excavation of varying severity. OCT imaging is helpful in explaining better than expected vision.

Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective.

Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutations in the fibrillin-1 gene located on chromosome band 15q15-21. Fibrillin, a glycoprotein, is widely expressed throughout the body and contributes to the elasticity and force-bearing capacity of connective tissue. In the eye, fibrillin is a key constituent of the ciliary zonules, which suspend the crystalline lens in place. The zonular defect leads to ectopia lentis, which is a hallmark of Marfan ocular abnormalities and occurs in 60% to 80% of cases. Other less common ocular features of Marfan syndrome are increased axial length, astigmatism, and flat cornea. Visual function in Marfan syndrome could be affected in several ways: ectopia lentis, refractive error, amblyopia, retinal detachment, cataract, and glaucoma. Management of a subluxated lens starts with the correction of refractive error with eyeglasses in mild cases. In more severe cases, especially when the lens bisects the pupil, complete correction of refractive error is impossible without removing the subluxated lens. The best method for visual rehabilitation after lens extraction is still debated. Aphakic Artisan lens implantation at the time of subluxated lens removal results in good visual outcomes with an acceptable safety profile. Studies with longer term follow-up and larger sample populations are needed to evaluate the safety of this procedure in patients with Marfan syndrome.

Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig.

Background: Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders characterized by hypoglycosylation of glycoproteins. CDG type I results in a defect in the assembly of lipid-linkedoligosaccharides or their transfer onto nascent glycoproteins. Ocular abnormalities are common in CDG, but there is no report of detailed ophthalmologic evaluation in patients with CDG type Ig in the literature.Materials and Methods: Retrospective chart review of a case of CDG type Ig with novel variant in the associated gene: ALG12.Results: In addition to typical systemic findings of CDG, our case was found to have exotropia, bilateralcataracts, and retinitis pigmentosa with extinguished electroretinography in photopic and scotopic conditions.Conclusions: We hope to extend the understanding of ALG12-related CDG type Ig with these ophthalmologic observations.

Long-term Clinical Outcomes of Ahmed and Baerveldt Drainage Device Surgery for Pediatric Glaucoma Following Cataract Surgery.

PRECIS: In this retrospective case series, both Baerveldt and Ahmed glaucoma drainage devices resulted in good long-term outcomes in eyes with pediatric glaucoma following cataract surgery (GFCS). BACKGROUND: The aim of this study was to describe the long-term safety and efficacy of primary glaucoma drainage device surgery in patients with pediatric GFCS. METHODS: We retrospectively identified 28 eyes of 28 patients with GFCS that underwent tube shunt surgery with the Ahmed Glaucoma Valve or Baerveldt Glaucoma Implant. The primary outcome measure was a surgical failure, defined as intraocular pressure (IOP) >21 mm Hg or not reduced by 20% below baseline on 2 consecutive follow-up visits after 3 months, IOP <5 mm Hg on 2 consecutive follow-up visits after 3 months, and reoperation for glaucoma. RESULTS: The mean duration between cataract removal and the diagnosis of glaucoma was 3.6±1.5 years. Kaplan-Meier survival curves indicated a mean time to failure of 41.9±2.1 months after drainage device surgery. The cumulative probability of failure at 1, 2, 3, and 4 years was 3.6%, 19%, 28%, and 28%. IOP was significantly decreased from 29.3±4.1 mm Hg preoperatively to 17.6±1.6 mm Hg at the final follow-up visit (P<0.001). The number of glaucoma medications at baseline was 3.1±0.6, which decreased to 2.1±0.7 at the final visit (P=0.001). CONCLUSIONS: Glaucoma drainage device surgery results in good long-term outcomes in patients with GFCS.

Long-term surgical outcomes of ab externo trabeculotomy in the management of primary congenital glaucoma.

PURPOSE: To analyze the long-term results of ab externo trabeculotomy with a Harms trabeculotome at a single, tertiary care pediatric hospital. METHODS: The medical records of pediatric patients operated on between September 2006 and June 2018 were reviewed retrospectively. Kaplan-Meier analysis was performed, with success defined as postoperative intraocular pressure (IOP) of ≤21 mm Hg, >20% reduction from preoperative IOP, and no need for further glaucoma surgery. Risk factors for failure were identified using Cox proportional hazards ratio. RESULTS: A total of 63 eyes of 40 patients were included. The cumulative probability of success rate was 83% at 3 months, 76% at 6, 73% at 12, 72% at 18, and 65% at final visit. Presentation within 3 months of life was associated with a less favorable outcome. Thirty-five eyes (56%) underwent repeat trabeculotomy to treat a different area of the trabecular meshwork because of inadequately controlled IOP after the first session. Of those who needed another session of trabeculotomy, the final success rate was 60.2%. IOP significantly decreased from 29.79 ± 7.67 mm Hg at baseline to 16.13 ± 3.41 mm Hg by final follow-up (P = 0.001). Patients were followed for an average of 85.74 ± 32.95 months. IOP and success rates remained stable 18 months after surgery. CONCLUSIONS: In our patient cohort, ab externo trabeculotomy was associated with good long-term results. More extensive trabeculotomy (ie, more than one procedure) was associated with better long-term success rates.

Pediatric Nd:YAG laser capsulotomy in the operating room: review of 87 cases.

AIM: To report a large series of children having Nd:YAG laser capsulotomy in the operating room using the lateral decubitus position. METHODS: Medical records of children who underwent Nd:YAG laser capsulotomy in the operating room at Ann & Robert H. Lurie Children's Hospital of Chicago between September 2008 and April 2017 were reviewed. Induction of general anesthesia and intubation was performed in the supine position after which the patient was placed in lateral decubitus position. The Nd:YAG laser capsulotomy was performed using a standard protocol. At the completion of the procedure, the patient was turned back into the supine position and extubated. RESULTS: This study included 87 eyes of 60 patients. Patient's age ranged from 1 to 18y (mean 6.4±4.1y). In most cases (84/87, 97%), the procedure was performed under general anesthesia. In all cases, good focus on the membrane was achieved, and the procedure was performed successfully. There were no intraoperative ocular or anesthesia-related complications. CONCLUSION: When performing Nd:YAG laser capsulotomy in the operating room, the lateral decubitus position allows an easy and safe approach without the risk of potentially devastating complications that have been associated with the previously described sitting and prone positions.

Outcomes of a two-drug chemotherapy regimen for intraocular retinoblastoma.

BACKGROUND: Retinoblastoma is the most common intraocular tumor of childhood. Vision salvage rates in advanced cases are less than ideal, and the optimal treatment for intraocular retinoblastoma has not been established. We report the results of an institutional retinoblastoma treatment trial to determine the vision salvage rates and toxicity of a regimen combining carboplatin and etoposide with focal retinal therapy. PROCEDURE: Twenty-nine patients diagnosed with retinoblastoma in 48 eyes were treated between 1992 and 2004 with at least six cycles of carboplatin and etoposide combined with focal retinal therapy. RESULTS: The response rate of eyes after six cycles of chemotherapy was 85.4%. Twenty-two eyes were enucleated, but only seven eyes received EBRT. The vision salvage rate without EBRT was 82.6% for eyes with Reese-Ellsworth (R-E) groups I-IV tumors and 20% for eyes with R-E group V tumors. The vision salvage rate without EBRT for eyes with Murphree groups A and B tumors was 77.3% but was only 26.9% for eyes with groups C and D tumors. Acute side effects were minimal. CONCLUSIONS: The combination of carboplatin and etoposide with focal therapy is a well-tolerated regimen that has acceptable vision salvage rates for R-E groups I-IV and Murphree groups A and B retinoblastoma. This combination avoids the use of EBRT and the toxicity of additional chemotherapy agents. However, patients with R-E group V and Murphree groups C and D retinoblastoma have poorer outcomes and require more intensive therapy.

Atypical persistence of tunica vasculosa lentis.

The authors report an unusual case of persistent tunica vasculosa lentis in a patient with minimal retinopathy of prematurity (ROP). A 3-month-old male infant who had been born at 31 weeks' gestation presented with a significant amount of persistent tunica vasculosa lentis and arteriolar tortuosity with minimal ROP and no plus disease. After weekly observation and no surgical intervention, the arteriolar tortuosity lessened but the tunica vasculosa lentis persisted. Persistent tunica vasculosa lentis can be mistaken for iris vascular engorgement, suggesting plus disease and high-risk prethreshold ROP. Differentiation between tunica vasculosa lentis and iris vascular engorgement, as well as correct diagnosis of plus disease, is critical when considering laser treatment for high-risk prethreshold ROP.

Congenital lymphocytic choriomeningitis virus-an underdiagnosed fetal teratogen.

Congenital lymphocytic choriomeningitis virus (LCMV) infection is associated with high mortality and morbidity. Although the number of cases reported in the literature has been increasing, it might still be clinically an underdiagnosed human fetal teratogen. We report 2 more cases of serologically proven congenital LCMV infection. One case presented with Aicardi-like syndrome features. Since congenital LCMV infection may mimic Aicardi syndrome, serologic testing should be considered in the workup of patients with Aicardi syndrome to rule out LCMV infection.

Ocular biometry and determinants of refractive error in a founder population of European ancestry.

BACKGROUND: The prevalence of myopia is increasing worldwide. Previous studies have found a positive association between myopia, education, and near activities, while others have noted a negative association with outdoor exposure. This study reports refractive error and biometry in a founder population of European ancestry, the Hutterites, and discusses risk factors contributing to myopia. METHODS: Cross-sectional study, including complete eye exams with retinoscopy and biometry. RESULTS: 939 study participants, ages 6 to 89, were examined. Females were significantly more myopic than males (SE -0.87 ± 2.07 and -0.40 ± 1.49 in females and males, respectively, p < 0.0001). Males had significantly longer axial lengths. Females had steeper corneas. This is the first epidemiological report of refractive error among the Hutterites. DISCUSSION: As a genetically isolated population with a communal lifestyle, the Hutterites present a unique opportunity to study risk factors for myopia. Hutterite females are more myopic than males, a finding which has only been reported in a few other populations. Hutterite children complete compulsory education through the 8th grade, after which women and men assume gender-specific occupational tasks. Men often work outside on the farm, while women engage in more domestic activities inside. These occupational differences likely contribute to the increased myopia comparing females to males, and their uniform lifestyle reduces the impact of potential confounding factors, such as education and income. CONCLUSIONS: The Hutterites are more myopic than most other North American and European populations. Greater time spent doing near work and less time spent outdoors likely explain the increased myopia comparing females to males.

Stereoacuity outcomes following surgical correction of the nonaccommodative component in partially accommodative esotropia.

BACKGROUND: Previous studies of partially accommodative esotropia (PAET) have assessed factors requiring surgery and alignment outcomes. The purpose of the present study was to additionally evaluate stereoacuity in patients who required surgery for their nonaccommodative component. METHODS: The medical records of consecutive patients with PAET who underwent bilateral medial rectus recession from April 1990 to July 2010 to treat the nonaccommodative component were reviewed retrospectively. Preoperative data included visual acuity, stereoacuity, cycloplegic refraction, deviation at distance and near, and age at surgery. The primary outcomes were stereoacuity and alignment. RESULTS: A total of 84 patients were included. Stereopsis by the Titmus StereoTest was demonstrated in 51 (61%) by the final visit. The average follow-up time was 4.4 ± 2.8 years (range, 0.8-11.0 years). Fine stereopsis (100 arcsec or better) was appreciated in 29 patients (35%, 57% of those with stereopsis). Of those with residual esotropia, 11 (50%) demonstrated stereopsis, and 7 (32%) appreciated fine stereoacuity. No exotropic patient had stereopsis. There was a statistically significant correlation between age at time of surgery and stereopsis at 1 year (ρ = 0.233; P = 0.033) but not at the final visit (ρ = 0.106, P = 0.34). Of the 84 patients, 56 (67%) had a favorable alignment (within 10Δ of orthotropia) at the final visit; 22 (26%) had residual esotropia; and 6 (7%) had consecutive exotropia. CONCLUSIONS: In this subset of esotropic patients who required surgery for their nonaccommodative component, favorable sensory outcomes can be achieved. Furthermore, favorable stereoacuity can be found even when there is a residual esodeviation.

Pupillary manifestations of Marfan syndrome: from the Marfan eye consortium of Chicago.

BACKGROUND: Marfan syndrome (MFS) is a genetic disorder that affects multiple organ systems, including the eye. The most common ocular manifestations include ectopia lentis and retinal detachment. The current literature qualitatively cites that MFS patients have miotic or "poorly dilating" pupils. This study was the first to quantitatively assess pupillary function in MFS patients. MATERIALS AND METHODS: 57 eyes from 29 MFS patients, 36 eyes from 18 pediatric age- and gender-matched controls, and 44 eyes from 22 adult age-matched controls were measured in a clinic-based cross sectional study. Pupillometry data were measured in scotopic conditions using the handheld NeurOptics PLR-200™ Pupillometer (NeurOptics, Irvine, CA, USA). Data obtained with the pupillometer were maximum and minimum diameter, constriction percentage, latency, average and maximum constriction velocities, average dilation velocity, and 75% recovery time (T75). RESULTS: Pediatric patients with MFS had significantly slower average constriction velocity measurements (ß = 0.65, p = 0.0003), maximum constriction velocity measurements (ß = 0.51, p = 0.0150) and average dilation velocity measurements (ß = -0.19, p = 0.0029) compared to control patients. In the adult cohort, results indicated significantly slower average dilation velocity measurements (ß = -0.13, p = 0.0077) compared to controls. CONCLUSIONS: Our data highlight pupillary parameters within a population of MFS patients under scotopic conditions. Constriction and dilation velocities were slower in the pediatric MFS patients compared to age- and gender-matched controls, and dilation velocities were slower in the adult MFS patients compared to age-matched controls. These findings, for the first time, quantitatively demonstrated differences in pupillary function in patients with MFS.