Bilateral compressive optic neuropathy and outer retinopathy due to optic canal hyperostosis in a child with isolated vitamin a deficiency.

PURPOSE: Vitamin A plays a crucial role in rod phototransduction, with deficient levels manifesting as night blindness. Animal models have demonstrated bone dysplasia in the setting of hypovitaminosis A. We present a rare case of bony overgrowth leading to bilateral compressive optic neuropathy, combined with outer retinopathy, in a paediatric patient secondary to isolated vitamin A deficiency. METHODS: A single case report was conducted from Toronto, Canada. RESULTS: A 12-year-old boy with known autism spectrum disorder presented with a 9-month history of progressive painless vision loss. Vision was 20/300 and hand motion in the right and left eye, respectively. Fundus photography demonstrated bilateral optic atrophy and yellow lesions notably in the right eye far periphery. Optical coherence tomography (OCT) imaging demonstrated thinning of the retinal nerve fibre layer, alterations in the ellipsoid zone, as well as retinal pigment epithelium deposits. Computed tomography imaging demonstrated sphenoid bone thickening with narrow optic canals and moderate optic atrophy bilaterally. Full-field electroretinogram (ERG) demonstrated mildly reduced dark adapted (DA) 0.01 b-wave amplitudes and electronegative configuration of DA 3.0 and DA 10.0 ERG; the light adapted ERGs were normal. The patient was treated with pulse vitamin A therapy. Subsequently, the DA ERG normalized, outer retinal changes reversed and vision stabilised; no surgical intervention was conducted. CONCLUSION: This case represents a rare presentation of compressive optic neuropathy with concomitant outer retinopathy secondary to isolated vitamin A deficiency. Despite improvement in outer retinal integrity on OCT imaging and ERG testing results following vitamin A supplementation, no functional improvement was obtained due to severe optic atrophy.

Use of Botulinum Toxin in Ophthalmology.

Botulinum toxin is an important treatment for many conditions in ophthalmology, including strabismus, nystagmus, blepharospasm, hemifacial spasm, spastic and congenital entropion, corneal exposure, and persistent epithelial defects. The mechanism of action of botulinum toxin for both strabismus and nystagmus is the neuromuscular blockade and transient paralysis of extraocular muscles, but when botulinum toxin is used for some forms of strabismus, a single injection can convey indefinite benefits. There are two unique mechanisms of action that account for the long-term effect on ocular alignment: (1) the disruption of a balanced system of agonist-antagonist extraocular muscles and (2) the reestablishment of central control of alignment by the binocular visual system. For other ocular conditions, botulinum toxin acts through transient paralysis of periocular muscles. Botulinum toxin is a powerful tool in ophthalmology, achieving its therapeutic effects by direct neuromuscular blockade of extraocular and periocular muscles and by unique mechanisms related to the underlying structure and function of the visual system.

Long-term visual outcomes of craniopharyngioma in children.

Visual function is a critical factor in the diagnosis, monitoring, and prognosis of craniopharyngiomas in children. The aim of this study was to report the long-term visual outcomes in a cohort of pediatric patients with craniopharyngioma. The study design is a retrospective chart review of craniopharyngioma patients from a single tertiary-care pediatric hospital. 59 patients were included in the study. Mean age at presentation was 9.4 years old (range 0.7-18.0 years old). The most common presenting features were headache (76%), nausea/vomiting (32%), and vision loss (31%). Median follow-up was 5.2 years (range 1.0-17.2 years). During follow-up, visual decline occurred in 17 patients (29%). On Kaplan Meier survival analysis, 47% of the cases of visual decline occurred within 4 months of diagnosis, with the remaining cases occurring sporadically during follow-up (up to 8 years after diagnosis). In terms of risk factors, younger age at diagnosis, optic nerve edema at presentation, and tumor recurrence were found to have statistically significant associations with visual decline. At final follow-up, 58% of the patients had visual impairment in at least one eye but only 10% were legally blind in both eyes (visual acuity 20/200 or worse or < 20° of visual field). Vision loss is a common presenting symptom of craniopharyngiomas in children. After diagnosis, monitoring vision is important as about 30% of patients will experience significant visual decline. Long-term vision loss occurs in the majority of patients, but severe binocular visual impairment is uncommon.

Long-term visual outcomes of optic pathway gliomas in pediatric patients without neurofibromatosis type 1.

Sporadic optic pathway gliomas (OPGs) have been reported to cause more vision loss than OPGs associated with neurofibromatosis type-1, but long-term visual outcome data are limited. The purpose of this study was to report the visual outcomes of a cohort of pediatric patients with sporadic OPGs. This was a retrospective, cohort study at a tertiary care pediatric hospital and cancer institute. The study included all patients with sporadic OPGs evaluated from 1990 to 2014. The primary outcome was visual acuity at final follow-up. Secondary outcomes were risk factors for a poor visual outcome and the rate of progression. There were 59 pediatric patients included in the study. Median age at presentation was 2.5 years old and median follow-up was 5.2 years. In the worse eye at final follow-up, 16 patients (27 %) were 20/30 or better, 9 patients (15 %) were between 20/40 and 20/80, and 34 patients (58 %) were 20/100 or worse. In the better eye at final follow-up, 33 patients (56 %) were 20/30 or better, 11 patients (19 %) were between 20/40 and 20/80, and 15 patients (25 %) were 20/100 or worse. Risk factors for a poor visual outcome included younger age at presentation, optic nerve pallor, and tumor extent. Of the 54 patients (92 %) who received treatment, 40 (74 %) experienced disease progression during or after treatment. A majority of pediatric patients with sporadic OPGs had significant long-term visual impairment. In spite of treatment, tumor progression is common. Serial ophthalmic examinations with quantitative vision measurements are essential in the management of sporadic OPGs.

Risk of serious intracranial pathology in children presenting with acute acquired comitant esotropia.

OBJECTIVE: Acute acquired comitant esotropia (AACE) is defined as a sudden-onset constant nonaccommodative esodeviation. The purpose of this study was to determine the risk of serious intracranial pathology in children presenting with AACE. DESIGN: Retrospective observational cohort study. SETTING: Tertiary care pediatric hospital. METHODS: The study included consecutive children who met the diagnostic criteria for AACE and had neuroimaging at a tertiary care pediatric hospital between 2000 and 2020. Patients were identified by searching the radiology database for all children who underwent neuroimaging for esotropia. The primary outcome measure was the proportion of patients with serious intracranial pathology. Secondary outcomes included risk factors for finding likely causative intracranial pathology and the proportion of patients with incidental findings. RESULTS: A total of 107 patients met the inclusion criteria. Most of the patients (75.7%) had normal neuroimaging. The next most common result was an incidental finding unrelated to the esotropia (18.7%). Five patients (4.7%) had findings with uncertain contribution to esotropia, including 3 cases of type I Chiari malformation. A serious intracranial pathology was found in 1 patient (0.9%) who had a cerebellar medulloblastoma. CONCLUSION: In this large series of pediatric patients with AACE who underwent neuroimaging, there was a small but nontrivial risk of serious intracranial pathology. In these patients, it is advisable either to obtain neuroimaging or to monitor closely for the development of concerning signs or symptoms.

Ocular manifestations and long-term complications of rhabdomyosarcoma in children.

BACKGROUND/OBJECTIVES: The purpose of the study was to describe the ocular manifestations of rhabdomyosarcoma in a large cohort of children. SUBJECT/METHODS: This was a retrospective observational cohort study. The medical records of all pediatric patients with head and neck rhabdomyosarcoma diagnosed between 1997 and 2021 at a tertiary-care pediatric hospital were analyzed. The main outcome measures were the incidence and prognostic role of ocular findings at presentation and long-term ocular complications. RESULTS: There were 77 children with head and neck rhabdomyosarcoma in the study cohort with 38 patients showing ocular manifestations at presentation. Median age at diagnosis was 6.0 years, the median follow-up was 5.7 years and 54.5% were male. At last follow-up, 70.1% had no evidence of progression, 26.0% were deceased, and 2.6% were on palliative treatment. Orbital signs were common (44.2%). The most common ocular findings were proptosis (18.2%), restriction of extraocular motility (28.6%), strabismus/diplopia (22.1%) and ptosis (16.9%). The most common long-term complications were bony hypoplasia/facial asymmetry (40.3%) and keratopathy/dry eye (31.2%). Poor visual acuity (≤20/200) was noted in 13 (16.9%) patients with 5 (6.5%) patients requiring an exenteration. Survival was 100% in primary orbital RMS (p = 0.02), whereas any or a combination of cranial nerve palsies carried a poor prognosis (42% survival, p = 0.008). CONCLUSIONS: In our cohort, half of children with rhabdomyosarcoma had ocular manifestations at presentation with about one-third showing orbital tumor involvement. Cranial nerve involvement carried a significantly worse prognosis for survival.

Acquired myelinated retinal nerve fiber layer in a child with neurofibromatosis 1-related optic pathway glioma.

Myelinated retinal nerve fiber layer (RNFL) is a rare structural anomaly that occurs from abnormal myelination extending anterior to the lamina cribrosa. Clinically, myelinated RNFL is characterized as a gray-white lesion with feathered, well-demarcated borders obscuring the retinal vasculature. Myelinated RNFL is typically congenital, benign, and asymptomatic. It is most commonly noted as an incidental finding on ophthalmic examination. However, cases of acquired myelinated RNFL have been reported. We report the case of a patient with neurofibromatosis type 1 and optic pathway glioma with unilateral acquired myelinated RNFL.

Diagnostic utility of point-of-care ultrasound and optical coherence tomography for papilloedema in children: a prospective pilot study.

BACKGROUND/AIMS: Papilloedema is an important sign of serious neurological disease, but it can be difficult to detect on funduscopy. The purpose of this study was to determine the diagnostic accuracy of point-of-care ultrasound (POCUS) and optical coherence tomography (OCT) for detecting papilloedema in children. METHODS: This was a prospective observational study at a tertiary care paediatric hospital. Patients were eligible for the study if they underwent a lumbar puncture with opening pressure and had high-quality POCUS and OCT imaging. RESULTS: A total of 63 eyes from 32 patients were included in the study, 41 (65%) with papilloedema and 22 (35%) without. There were statistically significant differences between the groups in the optic disc elevation (ODE) (p<0.001) and optic nerve sheath diameter (ONSD) (p<0.001) on POCUS, and in the average retinal nerve fibre layer (rNFL) thickness on OCT (p<0.001). Average rNFL thickness had the highest diagnostic accuracy with an area under the curve (AUC) of 0.999 and a 100% sensitivity and 95% specificity for papilloedema (threshold value of ≥108 µm). ODE had an AUC of 0.866 and a 93% sensitivity and 55% specificity (threshold value of ≥0.5 mm). ONSD had an AUC of 0.786 and a 93% sensitivity and 45% specificity (threshold value of ≥5.5 mm). CONCLUSION: Both OCT and POCUS are potentially useful tools to help diagnose papilloedema in children. Larger studies are needed to further define the role and accuracy of POCUS and OCT in assessing papilloedema in children.

Ensemble of deep convolutional neural networks is more accurate and reliable than board-certified ophthalmologists at detecting multiple diseases in retinal fundus photographs.

AIMS: To develop an algorithm to classify multiple retinal pathologies accurately and reliably from fundus photographs and to validate its performance against human experts. METHODS: We trained a deep convolutional ensemble (DCE), an ensemble of five convolutional neural networks (CNNs), to classify retinal fundus photographs into diabetic retinopathy (DR), glaucoma, age-related macular degeneration (AMD) and normal eyes. The CNN architecture was based on the InceptionV3 model, and initial weights were pretrained on the ImageNet dataset. We used 43 055 fundus images from 12 public datasets. Five trained ensembles were then tested on an 'unseen' set of 100 images. Seven board-certified ophthalmologists were asked to classify these test images. RESULTS: Board-certified ophthalmologists achieved a mean accuracy of 72.7% over all classes, while the DCE achieved a mean accuracy of 79.2% (p=0.03). The DCE had a statistically significant higher mean F1-score for DR classification compared with the ophthalmologists (76.8% vs 57.5%; p=0.01) and greater but statistically non-significant mean F1-scores for glaucoma (83.9% vs 75.7%; p=0.10), AMD (85.9% vs 85.2%; p=0.69) and normal eyes (73.0% vs 70.5%; p=0.39). The DCE had a greater mean agreement between accuracy and confident of 81.6% vs 70.3% (p<0.001). DISCUSSION: We developed a deep learning model and found that it could more accurately and reliably classify four categories of fundus images compared with board-certified ophthalmologists. This work provides proof-of-principle that an algorithm is capable of accurate and reliable recognition of multiple retinal diseases using only fundus photographs.

A Comparison of Chemodnervation to Incisional Surgery for Acute, Acquired, Comitant Esotropia: An International Study.

PURPOSE: To compare the efficacy of botulinum toxin injections to strabismus surgery in children with acute, acquired, comitant esotropia (ACE), and to investigate factors predicting success. DESIGN: International, multi-center nonrandomized comparative study METHODS: Setting: Cloud-based survey. STUDY POPULATION: Children aged 2 to 17 years who underwent a single surgical intervention for ACE. INTERVENTIONS: Botulinum toxin injection ("chemodenervation" group) or strabismus surgery ("surgery" group). MAIN OUTCOME MEASURES: Primary measure: success rate at 6 months in propensity-matched cohort, defined as total horizontal deviation of 10 prism diopters or less with evidence of binocular single vision. Secondary measure: Risk factors for poor outcomes in the full cohort. RESULTS: Surgeons from 19 centers contributed. There were 74 patients in the chemodenervation group and 97 patients in the surgery group. In the propensity-matched data (n = 98), success rate was not significantly different at 6 months (70.2% vs 79.6%; P = .2) and 12 months (62.9% vs 77.8%; P = .2), but was significantly lower in the chemodenervation group at 24 months (52% vs 86.4%; P = .015). Irrespective of treatment modality, treatment delay was associated with lower success rates at 6 months, with median time from onset to intervention 4.5 months (interquartile range (IQR): 2.1, 6.7) in the success group and 7.7 months (IQR: 5.6, 10.1) in the failure group (P < .001). CONCLUSIONS: In children with ACE, success rate after chemodenervation was similar to that of surgery for up to 12 months but lower at 24 months. Those with prompt intervention and no amblyopia had the most favorable outcomes, regardless of treatment modality.

Association Between Vitamin Deficiencies and Ophthalmological Conditions.

Vitamin deficiencies can have adverse effects on health, including on the visual system. The ocular manifestations of a vitamin deficiency are related to the underlying biochemical function of the particular nutrient. While vitamin deficiencies are not common in developed counties, they are still prevalent in parts of the developing world and in specific, vulnerable populations. Vitamin deficiencies can cause or contribute to many ophthalmological conditions and eye diseases may even be the first presenting finding of a vitamin deficiency. As such, it is important for ophthalmologists to be aware of the ocular manifestations of vitamin deficiencies, especially given that the complications can be severe and effectively treated if identified early. This review summarizes the literature on the main vitamins known to have characteristic ocular manifestations: vitamins A, B1, B2, B9, B12, C, D, E and K. The function, epidemiology, manifestations, workup, and management of each vitamin is discussed in detail.

Visual outcomes in idiopathic intracranial hypertension in children.

OBJECTIVE: The purpose of this study was to report the clinical characteristics and long-term visual outcomes in a cohort of children with idiopathic intracranial hypertension (IIH). DESIGN: Retrospective, observational cohort study. PARTICIPANTS: Consecutive children who met the diagnostic criteria for definite IIH at a tertiary care pediatric hospital between 2009 and 2020. METHODS: The charts of pediatric patients with IIH were reviewed. The main outcome measure was long-term visual impairment, with an analysis of clinical features by age and risk factors for a poor visual outcome. RESULTS: There were 110 children (75 females) with IIH. At presentation, younger children with IIH were less likely to present with headaches (p = 0.01) and more likely to be asymptomatic (p = 0.03). There was a strong association with female sex (p < 0.001) and higher body mass index (p < 0.001) in adolescents in comparison to younger children. Of the 90 patients with long-term visual outcome data, only 8 (9%) had evidence of mild visual impairment (1 loss of visual acuity, 7 loss of visual field) with no cases of severe visual impairment. On risk factor analysis, the only variable associated with a poor visual outcome was greater severity of papilledema at diagnosis. CONCLUSIONS: In this large series of pediatric IIH, the long-term visual outcomes were favourable, with evidence of mild visual impairment in less than 10% of patients.

Late surgery for unilateral persistent fetal vasculature: long-term visual and anatomic outcomes.

BACKGROUND: Persistent fetal vasculature (PFV) is a congenital anomaly caused by failure of the ocular vasculature to regress. We report the visual and anatomic outcomes in patients who underwent surgery for PFV between 7-48 months of age. METHODS: The medical records of patients who underwent lensectomy and anterior or core vitrectomy for unilateral PFV, with or without intraocular lens implantation, were reviewed retrospectively. Inclusion criteria were surgery between 7-48 months of age and at least 12 months of follow-up. Patients with severe posterior segment involvement were excluded. The primary outcome was the final visual acuity using age-appropriate tests converted to logMAR. Secondary outcomes included the rate of adverse events and number of subsequent intraocular procedures. RESULTS: A total of 20 patients with a mean age at surgery of 19.3 ± 10.5 months and mean follow-up of 73.7 ± 46.7 months were included. Sixteen patients had delayed surgery due to late presentation; the remaining 4 were managed initially with refractive correction and occlusion. Eight patients (40%) achieved a final visual acuity better than 1.0 logMAR. Four eyes had adverse events, including one retinal detachment. No patient developed glaucoma. Four eyes underwent subsequent procedures. CONCLUSIONS: In our study cohort, surgery for unilateral PFV between 7-48 months of age achieved functional visual acuity in over one-third of patients. This is comparable to results achieved with surgery before 7 months of age, but with fewer adverse events. Differences in disease severity could account for later PFV presentation and surgery as well as outcomes.

Ophthalmic involvement in PHACES syndrome: prevalence, spectrum of anomalies, and outcomes.

PURPOSE: To highlight prevalence, spectrum of anomalies, and outcome of ophthalmic involvement in PHACES syndrome (posterior fossa malformations, infantile hemangiomas, arterial, cardiac, eye, and sternal anomalies). METHODS: A retrospective, noncomparative, single-institution observational case series of children with PHACES was conducted from 2000 to 2019. Data on ocular presentations, interventions and visual outcomes were collected. Primary outcome measures were the frequency and spectrum of ocular involvement. Secondary outcomes were final visual acuity, long-term ocular sequelae, and frequency of surgical interventions. RESULTS: A total of 43 infants had PHACES, of whom 29 (67%) had periocular infantile facial hemangiomas (IFH) and 6 (14%) had primary ocular anomalies that were always ipsilateral to the IFH. Five patients (12%) met ocular PHACES-specific diagnostic criteria, including optic nerve (3), retinal vascular (1) and lenticular (2) anomalies. Non-PHACES-specific abnormalities were Peters anomaly (1), persistent pupillary membranes (2), dysmorphic optic nerves (1), and iris/choroidal hemangiomas (2). IFH-related periocular abnormalities were frequent: ptosis (29), proptosis (9), strabismus (6). Surgery was required in 8 of the 29 children: (strabismus [6], entropion [2], ptosis [2], and optical iridectomy [1]), all of whom had orbital/conjunctival hemangioma (P = 0.03). Final visual acuity (follow-up, 8.7 years) ranged between 20/20 and 20/80 in 26 of 29 patients. All patients with visual acuity worse than 20/200 (3/29 [10%]) had structural anomalies. CONCLUSIONS: Two-thirds of infants with PHACES have periocular IFH causing vision compromising complications of amblyopia and strabismus. Structural ocular anomalies exist in 1 of 7 patients and are always ipsilateral to the IFH. Long-term ophthalmic monitoring and management is required, and the majority of patients obtain good visual outcomes.

Comparison of Unilateral Versus Bilateral Lateral Rectus Recession for Small Angle Intermittent Exotropia: Outcomes and Surgical Dose-Responses.

PURPOSE: To compare the surgical outcomes of unilateral lateral rectus recession to bilateral lateral rectus recession for small angle intermittent exotropia. METHODS: This was a retrospective cohort study of pediatric patients with an intermittent exotropia between 16 and 20 prism diopters (PD) who underwent unilateral lateral rectus recession or bilateral lateral rectus recession at a single tertiary care pediatric hospital. The primary outcome was success (exotropia < 10 PD of esotropia < 5 PD, no decrease in stereopsis > 0.6 log arcsec, and no reoperation) at 12 months postoperatively. Secondary outcomes included survival analysis of time to surgical failure, surgical dose-response, and improvement in central fusion or stereopsis. RESULTS: At 12 months, successful outcomes were achieved in 13 of 27 patients (46%) in the bilateral lateral rectus recession group and 19 of 28 patients (70%) in the unilateral lateral rectus recession group, which was not a statistically significant difference (P = .10). Survival analysis showed a trend toward a higher rate of failure in the bilateral lateral rectus recession group compared to the unilateral lateral rectus recession group (P = .04). The mean surgical dose-response was 1.7 PD/mm at 1 week and 1.0 PD/mm at 12 months for the bilateral lateral rectus recession group, and 2.0 PD/mm at 1 week postoperatively and 1.4 PD/mm at 12 months postoperatively for the unilateral lateral rectus recession group. There were no cases of long-term postoperative lateral incomitance in either group. CONCLUSIONS: Unilateral lateral rectus recession and bilateral lateral rectus recession have similar success rates for small angle intermittent exotropia after at least 12 months of follow-up. Randomized controlled trials in surgical management of intermittent exotropia should consider unilateral lateral rectus recession as a treatment arm. [J Pediatr Ophthalmol Strabismus. 2022;59(5):350-355.].

Prevalence and Characteristics of Cytomegalovirus Ocular Disease in Children: A Multi-Center Study.

Purpose: The objective of this study was to identify the prevalence of CMV ocular disease in children and to identify associated risk factors for ocular involvement. Design: Retrospective multicenter, cross-sectional study. Methods: Setting: Hospitalized patients screened for CMV viremia by PCR between 2005 and 2018 at four pediatric referral centers. Participants: Seven-hundred and ninety-three children showed CMV viremia (>135 copies/mL by polymerase chain reaction; PCR). Main Outcomes and Measures: (1) Occurrence of ophthalmologic examination. (2) Presence of CMV ocular disease, defined as retinitis, vasculitis, hemorrhage, optic nerve atrophy, or anterior uveitis in the setting of CMV viremia without other identifiable causes. Results: A total of 296/793 (37%) underwent ophthalmologic examination following CMV viremia. A total of23/296 patients (8%) had ocular symptoms prompting evaluation while the rest had eye exams for baseline screening unrelated to CMV viremia. Of these, 13 cases (4% of those with an eye exam) with ocular disease were identified (three congenital CMV, five severe combined immunodeficiency disorder (SCID) status post-stem cell transplantation, three hematologic malignancy status post-stem cell transplantation for two of them, one Evans syndrome status post-stem cell transplantation, and one medulloblastoma status post-bone marrow transplantation). No patients with solid organ transplantation developed CMV ocular disease in our cohort. Conclusion: CMV ocular disease was a rare occurrence in this cohort without an identifiable pattern across sub-groups. Excluding the three congenital CMV cases, nine out of ten patients with CMV ocular disease were status post-stem cell transplantation. We provide integrated screening guidelines based on the best available evidence for this rare condition.

Prevalence of Choroidal Abnormalities and Lisch Nodules in Children Meeting Clinical and Molecular Diagnosis of Neurofibromatosis Type 1.

PURPOSE: To determine the prevalence of choroidal abnormalities (CAs) and Lisch nodules (LNs) in children who met the clinical diagnostic criteria (CDC) alone and those with a molecularly confirmed diagnosis (MCD) of neurofibromatosis type 1 (NF1), and to ascertain any differences between the groups. METHODS: This was a cross-sectional observational study. All children who met the CDC and/or had MCD of NF1 and underwent eye examination were included. At least two CAs or LNs between the two eyes were set as a threshold to define the presence of either abnormality. Frequencies alongside 95% confidence intervals (CIs) were calculated. The relationship between patient age and the presence of LNs and/or CAs was estimated using logistic regression. RESULTS: The study cohort included 94 patients; CAs (64%) were more prevalent than LNs (41%) (0.22; 95% CI, 0.08-0.36; P = 0.0023). The probability of the presence of LNs was lower than that of CAs across all ages (odds ratio = 0.37; 95% CI, 0.20-0.69; P = 0.00173). CAs were exclusively found in 37% of patients and LNs in 16%; 80% had either CAs or LNs, or both. In the CDC group (n = 41), the difference in prevalence (CAs = 68%, LNs = 51%) did not attain statistical significance (0.17; 95% CI, -0.06 to 0.40; P = 0.18). In the MCD group (n = 53), the difference in prevalence (CAs = 60%, LNs = 34%) was significant (0.26; 95% CI, 0.006-0.47; P = 0.023). CONCLUSIONS: CAs were more frequent than LNs in pediatric NF1 patients regardless of age and MCD status. Combining ophthalmological exams with near-infrared imaging will increase the diagnostic reach in pediatric NF1. TRANSLATIONAL RELEVANCE: CAs detected on near-infrared imaging are objective biomarkers in NF1. They are more prevalent and detected earlier in the pediatric population compared with LNs. Hence, the presence of CAs should be routinely ascertained in children suspected with NF1.

Ocular and adnexal anomalies in Treacher Collins syndrome: a retrospective multicenter study.

BACKGROUND: Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by bilateral hypoplasia of facial structures and periorbital, ocular, and adnexal anomalies. The purpose of this multicenter study was to report the prevalence of ocular and adnexal anomalies in TCS and to identify patients at risk for visual impairment. METHODS: The medical records of patients seen at four craniofacial centers were reviewed retrospectively. The following data were reported: primary and secondary ocular and adnexal anomalies, orthoptic and ophthalmological findings, and severity of TCS based on the facial deformity. RESULTS: A total of 194 patients were included, of whom 49.5% were examined by an ophthalmologist or optometrist. The mean age at the first visual acuity measurement was 6.96 ± 6.83 years (range, 1.50-47.08); at final measurement, 11.55 ± 10.64 years (range, 1.75-62.58). Primary ocular anomalies were reported in 98.5% of cases, secondary anomalies in 34.5%, strabismus in 27.3%, refractive errors in 49.5%, and visual impairment in 4.6%. We found no association between ocular anomalies and visual impairment or between the severity of TCS and ocular anomalies or visual impairment, except for an increased prevalence of secondary ocular anomalies in patients with more severe manifestations of TCS. CONCLUSIONS: Ocular anomalies were present in nearly all patients with TCS, even in mild cases.