Lacrimal Obstruction in Craniosynostosis: Anatomical and Genetic Risk Factors.

PURPOSE: To investigate whether patients with craniosynostosis exhibit higher rates of nasolacrimal duct obstruction (NLDO) and to explore potential risk factors. METHODS: Retrospective review including all craniosynostosis patients treated at both the Divisions of Ophthalmology and Plastic, Reconstructive, and Oral Surgery at The Children's Hospital of Philadelphia between 2009 and 2020 was conducted. Synostosis characteristics, lacrimal disorders, and genetic data were collected. Main outcome measures were the rate of NLDO and associations with anatomical and syndromic/genetic risk factors. RESULTS: The total of 767 participants had a mean age of 2.8 ± 3.8 years, 465 (60.6%) were males, 485 (63.2%) had no syndromic association; 631 (82.3%) had one major suture involved, 128 (17%) had involvement of 2 to 4 major sutures, and 429 (55.9%) underwent craniofacial surgery. Forty-eight (6.2%) patients had NLDO, which more prevalent in the genetic/syndromic group (11.0% vs. 3.5%, respectively, p < 0.001), with the highest prevalence observed in patients with Apert syndrome (n = 4, 30.8%). The genetic variants most associated with NLDO were EFNB1 (n = 1, 100%) and FGFR2 (n = 6, 19.4%). There was no association between NLDO and the number or types of sutures involved or a history of craniofacial surgery. CONCLUSIONS: Nasolacrimal duct obstruction is more common in patients with craniosynostosis compared to the general population. Having a putative syndrome or a putative genetic variant and female sex were risk factors for NLDO. Ophthalmic evaluations for all craniosynostosis patients and careful assessments of any symptoms of tearing are recommended.

Outcome of Primary Monocanalicular Stent Placement in Pediatric Down Syndrome Patients with Congenital Nasolacrimal Obstruction.

PURPOSE: Congenital Nasolacrimal duct obstruction (CNLDO) is a relatively common problem in children with Down syndrome (DS). Probing and irrigation (PI) with monocanalicular stent intubation may be less successful than in non-DS patients, thus raising some concerns regarding the preferred treatment in this population. We aimed to analyze the surgical outcome of PI along with monocanalicular stent intubation in children with DS compared with non-DS patients. METHODS: Retrospective cohort study. Thirty-five eyes of 19 children with DS and 1,472 eyes of 1,001 children without DS underwent PI-monocanalicular stent intubation as a primary treatment for CNLDO. All patients were operated on by a single surgeon at the Children's Hospital of Philadelphia between 2009 and 2020. The main outcome measure was a surgical success, defined as the resolution of symptoms after surgery. RESULTS: A total of 1,020 patients were included, 48% females; mean age of 1.9 ± 1.4 years. The mean follow-up time was 35.0 months. The DS patients group consisted of 19 patients. Higher rates of right nasolacrimal duct obstruction and bilateral obstructions were observed in the DS group (100% vs. 73.2%; p = 0.006, and 84.2% vs. 46.8%; p = 0.001, respectively). Patients with DS had a lower success rate (57.1% vs. 92.4%; p < 0 .0001). The median time to failure was 3.1 months in the DS group, and 5.2 months in the group of patients without DS. The hazard ratio comparing DS to the no-DS outcome was 6.6 (95% CI: 3.2-13.7; p < 0.001). CONCLUSIONS: CNLDO in DS is more likely to be bilateral and less likely to resolve after primary monocanalicular stent placement.

Silicone sling frontalis suspension for congenital ptosis: Outcome of 174 consecutive cases.

BACKGROUND: Frontalis suspension (FS) is the treatment of choice in congenital ptosis with poor levator function. We report the surgical outcome of FS using a double triangle configuration of silicone slings in children. METHODS: A retrospective cohort study of all paediatric patients with simple myogenic congenital ptosis repaired with FS over a 12-year period (2009-2020). Each silicone sling was secured by simple knots. Pre- and post-operative margin reflex distance (MRD1 ) measurements were determined from clinical photographs using ImageJ Software. Main outcome measures were improvement in eyelid height, eyelid asymmetry, reoperation rate and timing. RESULTS: One hundred and thirty nine patients (174 eyes) were included, with 35 (25%) having bilateral surgery. Mean (±SD) age was 1.4 ± 1.9 years. Mean follow up time was 32 ± 20.5 months. Sixteen patients (11%) had a history of previous ptosis repair surgery. Mean MRD1 improved by an average of 1.5 mm. The final MRD1 in the group of patients who did not have a second procedure was a mean of 2.1 mm. The MRD1 difference between both eyes in all unilateral cases improved from 2.5 mm preoperatively to 1.2 mm at final visit (p < 0.001). In the 123 cases without a history of previous ptosis surgery, repeat ptosis repair was performed in 37 (30%) patients, 34.9 ± 19.9 months after the initial procedure. Overall, repeat repair was performed in 47 patients (34%). CONCLUSIONS: Double triangle silicone sling frontalis suspension has a favourable outcome in two-thirds of paediatric patients with simple myogenic congenital ptosis. Failed cases can be addressed with a second repair, using either autogenous fascia lata or a second silicone sling.

Microdebridement of Intranasal Cysts Associated With Congenital Dacryocystoceles.

PURPOSE: The surgical management of congenital dacryocystoceles has evolved in recent decades. The aim of this study was to explore the effectiveness of endoscopic examination and powered microdebridement in the management of nasal cysts associated with congenital dacryocystoceles. METHODS: In this retrospective case series, all patients with congenital dacryocystoceles who underwent surgical intervention under general anesthesia at a single institution over a 12-year period (2009-2020) were included. RESULTS: Thirty-seven lacrimal drainage systems from 29 patients were included, 8 patients (28%) had bilateral dacryocystoceles. Twenty-two (76%) were females, and 5 (17%) patients had a history of prematurity. Mean (±SD) age at diagnosis was 15 ± 28 days, and 1.4 ± 1.7 months at surgical intervention. Mean follow-up was 7.5 months. The right side was more commonly involved (20 [69%] OD vs. 17 [59%] OS). Dacryocystitis was diagnosed at presentation in 23 lacrimal drainage systems (62%). Intraoperatively, intranasal cysts were observed in 32 lacrimal drainage systems (86%), and a powered microdebrider was used to excise each cyst. In 6 of the 21 supposed unilateral cases (29%), a contralateral cyst was identified and treated. The average birth age of patients with intranasal cysts was 39 weeks versus 36 weeks of patients without ( p = 0.03). Surgical success was found in 36 of 37 sides treated (97%); one case (3%) underwent unilateral endoscopic dacryocystorhinostomy during the follow-up period due to persistent symptoms. CONCLUSIONS: Congenital dacryocystoceles are associated with intranasal cysts in most cases. Surgical intervention with microdebrider is associated with a favorable outcome. Bilateral endonasal examination is ideal in all cases.

Primary Monocanalicular Stent Intubation for Children With Congenital Nasolacrimal Duct Obstruction: Surgical Outcome and Risk Factors.

PURPOSE: To determine the risk factors impacting the surgical success of primary monocanalicular stent intubation for congenital nasolacrimal duct obstruction (CNLDO). METHODS: This is a retrospective interventional case series of patients 18 years and younger treated more than a 12-year period with monocanalicular stent intubation with inferior turbinate fracture for CNLDO by a single surgeon. Patients with dacryocystoceles, dacryocystitis, Down syndrome and previous tear duct surgery were excluded. An intraoperative grading scale of tear duct stenosis, date of stent removal, stent length, and postoperative symptoms were recorded. Surgical success was defined as the complete resolution of symptoms. RESULTS: One thousand four hundred sixty-nine stents were placed in 1,001 pediatric participants (533 unilateral, 468 bilateral). The mean age at surgery was 1.86 years (0.1-18.07). The mean follow up was 34.99 months (0.43-134.3) with mean in-office stent removal at 3.41 months (0.63-36.9). Early stent loss occurred in 14.8% intubations (217/1,469). The overall success rate was 92.4% (1,357/1,469 eyes). Subjects less than the age of 4 years had a success rate of 92.8% (1,296/1,397) compared with 84.7% (61/72) in children more than 4. In multivariable analysis, bilateral surgery, severe tear duct stenosis, and early stent loss were significantly associated with higher risk of surgical failure. CONCLUSIONS: Severe tear duct stenosis, early stent loss, and bilateral surgery were significant risk factors for surgical failure. While the success rate stratified by age at surgery suggested a lower success after the age of 4. Primary monocanalicular stent intubation is an effective and safe treatment for CNLDO sparing a child the need for multiple staged surgeries.

Orbital and periorbital dermoid cysts: a retrospective analysis of 270 lesions.

PURPOSE: To report the clinical characteristics and intraoperative findings of periorbital and orbital dermoid cysts and their relationship to location and rupture. METHODS: Retrospective review of 270 cases with orbital or periorbital dermoid cysts that presented over a period of 11 years. Patients were included if diagnosis of dermoid cyst was made by histopathologic analysis. Clinical characteristics and operative outcomes were recorded and analyzed with Chi-squared analyses or univariate regression. Multivariate binary logistic regression was performed to assess predictors of location and rupture. RESULTS: Dermoids frequently occurred unilaterally and were more frequently described as mobile (61.5%), followed by fixed (30.8%), and partially fixed (7.7%). Dermoid rigidity was most commonly described as firm (75.5%), followed by cystic, soft, and rubbery. The most common dermoid location was superotemporal (60.4%). On Chi-squared analysis, superotemporal lesions were less likely to have orbital extension than non-superotemporal lesions (OR 0.28, 95% CI: 0.11-0.70, p = .01), less likely to undergo CT (OR 0.16, 95% CI: 0.06-0.41, p < .01) or MRI (OR 0.23, 95% CI: 0.13-0.41, p < .01), more likely to be described as mobile (OR 2.91, 95% CI: 1.32-6.43, p = .01), and less likely to rupture intraoperatively (OR 0.28, 95% CI: 0.11-0.73, p = .01). No variables were associated with rupture in multivariate analysis. CONCLUSION: Superotemporal dermoid cysts are common in the pediatric population, less likely to have orbital extension, undergo imaging, and have intraoperative rupture when compared to other locations in the orbit.

"Blepharophimosis-plus" syndromes: Frequency of systemic genetic disorders that also include blepharophimosis.

BACKGROUND: To determine the frequency of isolated blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) versus systemic genetic disorders in patients presenting with blepharophimosis. METHODS: Retrospective clinical records review. The records of all patients with blepharophimosis seen in the Division of Ophthalmology at the Children's Hospital of Philadelphia during a 12-year-period (2009-2020) were reviewed for medical history, clinical examination findings and results of genetic analyses. RESULTS: The 135 patients identified with blepharophimosis included 72 females (53%) and 63 males (47%) whose mean ± standard deviation age at first visit was 3.5 ± 6.4 years (range 0-39.8 years). Sixty-seven of the patients (50%) had undergone genetic testing for FOXL2 gene mutation. Fifty-four (81%) harboured FOXL2 gene mutations and 13 (19%) did not. Altogether, 126 patients (93%) had a final diagnosis of isolated BPES. The remaining nine (7%) had syndromic diagnoses ("blepharophimosis-plus"), including Dubowitz syndrome (n = 2), Ohdo syndrome (n = 1), 22q11.2 duplication (n = 1) and 3q22 deletion (n = 2). Three patients with multiple congenital anomalies remain undiagnosed. CONCLUSIONS: Blepharophimosis is an eyelid feature occurring most commonly in isolation due to FOXL2 gene mutation, but can also be a harbinger of multisystem disease not exclusive to isolated BPES, as observed in 7% of cases in this series. The ophthalmologist is often the first to recognise these unique features, and must consider and rule out non-BPES syndromes before establishing a diagnosed classic BPES. A comprehensive genetic evaluation is, therefore, indicated in all cases.

Management of Pediatric Acute Dacryocystitis.

PURPOSE: To analyze the clinical presentation, course, and management in a large cohort of pediatric acute dacryocystitis subjects and to examine whether hospitalization and urgent surgical intervention are indeed mandatory. METHODS: A retrospective analysis of all pediatric subjects diagnosed with dacryocystitis at the Children's Hospital of Philadelphia over a 12-year period (2009-2020). RESULTS: One-hundred sixty-nine pediatric acute dacryocystitis patients were included in this study. Management included admission in 117 cases (69%). Sixty-eight patients (40%) were treated medically with no surgical intervention, 75 cases (44%) required urgent surgical intervention, and 26 additional cases (15%) required surgery due to persistent tearing symptoms after medical management. The urgent procedures included most commonly: 1) endonasal examination and microdebridement of intranasal cysts in 26 cases (35%); 2) probing and irrigation without examination and microdebridement, with or without stent intubation, in 30 cases (40%); and 3) dacryocystorhinostomy (13 endonasal and 4 external) in 17 cases (23%). CONCLUSIONS: Management of pediatric acute dacryocystitis should be tailored individually for each case. Hospital admission and early surgical intervention are not mandatory, as 31% of cases resolved without admission, and 56% without early surgical intervention. Although a specific age cutoff is not plausible, hospital admission for younger patients is more commonly advocated. When surgical intervention is indicated, endonasal examination and microdebridement of any associated intranasal cyst and probing with possible stenting are the initial procedures of choice. Dacryocystorhinostomy is reserved for more complex obstructions. Although pediatric acute dacryocystitis is an infection with serious potential problems, when managed appropriately, complications are rare.

Current treatment of optic nerve gliomas.

PURPOSE OF REVIEW: Optic pathway gliomas are low-grade neoplasms that affect the precortical visual pathway of children and adolescents. They can affect the optic nerve, optic chiasm, optic tracts and radiations and can either be sporadic or associated with neurofibromatosis type one. Gliomas isolated to the optic nerve (ONG) represent a subgroup of optic pathway gliomas, and their treatment remains controversial. New developments in ONG treatment have emerged in recent years, and it is necessary for clinicians to have a current understanding of available therapies. RECENT FINDINGS: The current review of the literature covers the background of and recent developments in ONG treatment, with a focus on standard chemotherapy, new molecularly targeted therapies, radiation therapy and surgical resection and debulking. SUMMARY: Although standard chemotherapy remains the mainstay of ONG treatment, newer molecularly targeted therapies such as mitogen-activated protein kinase kinase inhibitors and bevacizumab represent a promising new treatment modality, and clinical studies are ongoing.

Complex Bony Congenital Nasolacrimal Duct Obstruction Caused by an Adjacent Canine Tooth Bud.

The authors report the case of a 7-year old child with failed probing with stent intubation, who was found to have an unusual curvature of the nasolacrimal duct on the symptomatic side. CT imaging revealed a permanent maxillary canine tooth adjacent to the duct. It appeared that the relationship of the tooth bud to the curved nasolacrimal duct was most likely responsible for the symptoms of epiphora on this anomalous side.

Complex Stenoses and CT Features of the Nasolacrimal Canal in Congenital Nasolacrimal Duct Obstruction.

PURPOSE: To study the CT appearance of the nasolacrimal canal (NLC) in cases of congenital nasolacrimal duct obstruction (CNLDO) where there is a tactile sensation of a hard contact (HC) stop in the duct preventing stent intubation. METHODS: The authors retrospectively reviewed all consecutive cases of chronic CNLDO observed between 2003 and 2018 in which an apparent HC obstruction prevented nasolacrimal intubation. CT scans were reviewed to determine the cause of probing failure: distal stenosis, loss of parallelism of the NLC walls, abnormal angulations or an adjacent obstacle blocking tear outflow. RESULTS: Nine patients (12 sides) met the following criteria: CNLDO + HC + probing failure. The mean age at the time of the first HC was 3.9 years (range: 0.8-8.1 years) and at the time of a second confirmation of HC with subsequent dacryocystorhinostomy was 7.8 years (range: 4.1-9.2 years). Nasolacrimal duct opacification was noted in 33% of cases (4/12). Abnormalities of the NLC occurred in 8 of the 12 cases of CNLDO (8/12 = 66.6%) and on the asymptomatic side in 1 case (1/6 = 16.6%). A canine tooth bud situated in the same plane as the NLC was observed in 9 cases of CNLDO (9/12 = 75%) and on the asymptomatic side in 2 cases (2/6 = 33.3%). CONCLUSIONS: HC noted during probing is a sensitive but relatively nonspecific sign which, nevertheless, does indicate either a complex obstruction or at least potential intubation difficulties. As confirmed by CT imaging, a significant anatomical variant is not necessarily predictive of epiphora, but nevertheless may complicate the intubation procedure.The authors describe hard contact palpation during probing for CLNDO and its relationship to anatomic location and etiologies of obstruction in the nasolacrimal canal by CT imaging.

Pediatric Thyroid Eye Disease: Clinical Characteristics and Orbital Decompression Outcomes.

PURPOSE: To review the clinical presentation, disease severity, and surgical interventions of children with thyroid eye disease (TED) at a single institution over a 7-year period. METHODS: Retrospective cohort study of children 0 to 18 years of age with a diagnosis of TED, seen at the Children's Hospital of Philadelphia from 2009 to 2016. Ophthalmic examination findings, neuroimaging study results, and ophthalmological management were recorded. t-Tests were used to test for statistical significance. Institutional Review Board approval was obtained for the study. RESULTS: Sixty-seven subjects with pediatric TED were studied: 59 female and 8 male. The mean age at diagnosis was 11.6 years (SD 4.2, range 2.3-17.9). All subjects had proptosis (67, 100%). Other clinical findings were eyelid retraction in 46 (69%), chemosis in 7 (10%), punctate epithelial erosions in 8 (12%), and strabismus in 1 (1.5%). No subjects had evidence of optic neuropathy. Five subjects with static-phase TED received orbital decompression surgery for exposure keratopathy and disfigurement. All had significant cosmetic improvement and resolution of exposure keratopathy. DISCUSSION: In this series, children with TED generally exhibit mild ocular signs, which is in agreement with past studies. Our study presented a high incidence of proptosis compared with other studies; however, this may represent a referral bias to our quaternary care center. CONCLUSION: Pediatric TED patients exhibit mild symptoms, such as proptosis and eyelid retraction without strabismus, vision loss, or optic neuropathy. Some children with TED have severe disfigurement and corneal exposure due to the disease and benefit from orbital decompression.

Simultaneous Versus Sequential Ptosis and Strabismus Surgery in Children.

PURPOSE: The authors sought to compare the clinical outcomes of simultaneous versus sequential ptosis and strabismus surgery in children. METHODS: Retrospective, single-center cohort study of children requiring both ptosis and strabismus surgery on the same eye. Simultaneous surgeries were performed during a single anesthetic event; sequential surgeries were performed at least 7 weeks apart. Outcomes were ptosis surgery success (margin reflex distance 1 ≥ 2 mm, good eyelid contour, and good eyelid crease); strabismus surgery success (ocular alignment within 10 prism diopters of orthophoria and/or improved head position); surgical complications; and reoperations. RESULTS: Fifty-six children were studied, 38 had simultaneous surgery and 18 sequential. Strabismus surgery was performed first in 38/38 simultaneous and 6/18 sequential cases. Mean age at first surgery was 64 months, with mean follow up 27 months. A total of 75% of children had congenital ptosis; 64% had comitant strabismus. A majority of ptosis surgeries were frontalis sling (59%) or Fasanella-Servat (30%) procedures. There were no significant differences between simultaneous and sequential groups with regards to surgical success rates, complications, or reoperations (all p > 0.28). CONCLUSIONS: In the first comparative study of simultaneous versus sequential ptosis and strabismus surgery, no advantage for sequential surgery was seen. Despite a theoretical risk of postoperative eyelid malposition or complications when surgeries were performed in a combined manner, the rate of such outcomes was not increased with simultaneous surgeries. Performing ptosis and strabismus surgery together appears to be clinically effective and safe, and reduces anesthesia exposure during childhood.

Childhood Optic Nerve Glioma: Vision Loss Due to Biopsy.

Two children without neurofibromatosis type 1 presented with unilateral decreased vision and MRI revealing optic nerve tumors. In the first case, chemotherapy was initiated empirically for presumed optic pathway glioma, but the lesion increased in size with associated clinical worsening, raising concern for a possible alternate diagnosis. Biopsy of the involved optic nerve resulted in worsening of vision due to a branch retinal artery occlusion and showed a grade I pilocytic astrocytoma. In the second case, sudden symptom onset and rapid tumor growth prompted an optic nerve biopsy, resulting in vision loss due to a central retinal artery occlusion and revealing grade I pilocytic astrocytoma. In both cases, tissue diagnosis did not alter the course of management. Instead, biopsy was associated with additional vision loss, highlighting the risk of biopsy in children with isolated optic nerve tumors and imaging that is most consistent with an optic pathway glioma.

Alveolar rhabdomyosarcoma masquerading as embryonal subtype: the value of modern molecular diagnostic testing.

A 3-year-old child presented with a history of conjunctivitis in her OS. She had hyperglobus of the OS and a palpable mass in the left inferior orbit. An urgent MRI revealed an enhancing mass in the left orbit. The patient underwent an incisional biopsy with pathologic assessment most consistent with embryonal rhabdomyosarcoma. However, subsequent molecular genetic testing of the biopsy specimen was positive for the PAX3/PAX7-FKHR chimeric gene, indicating the tumor was actually an alveolar rhabdomyosarcoma. The patient received a more intensive chemotherapy regimen and also was treated with proton-beam radiotherapy. After chemotherapy and proton irradiation, the patient's tumor shrank considerably, and she remained in remission at over 3 years of follow up. This patient illustrates the new tools at the disposal of the orbital specialist including molecular genetic testing and proton-beam irradiation to diagnose and treat orbital rhabdomyosarcoma.

Endoscopic dacryocystorhinostomy: the keys to surgical success.

PURPOSE: To describe a surgical technique for endoscopic endonasal dacryocystorhinostomy. METHODS: A consecutive case series of adult endoscopic dacryocystorhinostomy surgery was reviewed. The specific surgical approach of uncinectomy with or without septoplasty and anterior middle turbinectomy was noted. Postoperative follow up including endoscopic examination and results were documented. RESULTS: A total of 300 cases were included (271 patients) with average age of 66 (range 24-94). An uncinectomy was performed in 285 of 300 (95%) cases, a septoplasty in 82 of 300 (27%) cases and an anterior middle turbinectomy performed in 225 of 300 (75%) cases. Postoperative bleeding that required nasal packing occurred in 2 of 300 (0.6%) cases. Persistent nasolacrimal symptoms after surgery occurred in 18 of 300 (6.0%) cases with an average follow up of 28 months (range 1-70). Postoperative nasolacrimal symptoms were attributed to a persistent lacrimal sac (sump syndrome) in 1 of 300 (0.3%) cases, a mucocele recurrence in 2 of 300 (0.6%) cases, and scarring at the rhinostomy in 15 of 300 (5.0%) cases. CONCLUSIONS: Endoscopic endonasal dacryocystorhinostomy is an effective treatment for nasolacrimal duct obstruction. An uncinectomy, septoplasty, and anterior middle turbinectomy contribute to the optimal clearance of the common canaliculus and ultimate surgical success.

Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies.

BACKGROUND: Punctal atresia or agenesis (PA) is a rare congenital anomaly characterized by the absence or closure of the tear duct puncta, potentially linked to systemic genetic anomalies. The necessity of a genetic workup based solely on the presence of PA remains uncertain. This study investigates a cohort of PA patients, examining the prevalence and types of associated syndromes. METHODS: A retrospective medical records review of all patients diagnosed with PA at the Children's Hospital of Philadelphia between 2009-2023 was conducted, analyzing medical histories and genetic testing results. Primary outcomes included the prevalence of systemic syndromes, while secondary outcomes focused on the variety of associated syndromes. RESULTS: Forty-four patients were included, of which 31 were male (70%) with a mean ± SD age 3.3 ± 3.3 years. Overall, 87 puncta in the study cohort were affected, and 26 cases (59%) were bilateral. Systemic abnormalities or genetic syndromes were identified in 19 patients (43%), with the most common being Ectodermal Dysplasia and Down syndrome. Additional rare syndromes were demonstrated. No significant association was found between systemic abnormalities and gender, bilaterality, or the number of puncta involved. CONCLUSIONS: A high incidence of systemic syndromes (43%) was observed in the study cohort. In individuals with PA who also exhibit extraocular disease, systemic evaluation and genetic workup should be considered. Syndromic diagnoses identified in our cohort also include: Branchio-oto-renal syndrome, 22q11.2 deletion syndrome, 1q21.1 microdeletion syndrome, NF1, monosomy 4q and trisomy 6q, which represent novel associations. The lack of correlation between PA's phenotypic severity and systemic abnormalities highlights the need to obtain a comprehensive medical history and consider a systemic workup in PA patients.

Periorbital Outcomes and Vision Risk Stratification in Treacher Collins Syndrome.

BACKGROUND: We examined ophthalmologic outcomes and periorbital management in patients with Treacher Collins syndrome (TCS). METHODS: A retrospective cohort study was performed of children with TCS treated from 2009 to 2023 at our center. Demographics and medical history were collected. Primary outcomes were periorbital findings, surgical burden, and visual acuity. Patients were stratified by risk of vision loss based on ophthalmologic findings. RESULTS: Among 50 subjects, mean follow-up was 10.5±5.9 years. Periorbital findings included downslanting palpebral fissures (100%), eyelash deficiency (70%), eyelid coloboma (54%), and significant refractive error (50%). Twenty (40%) individuals underwent 86 periorbital procedures, including lateral canthopexy (n=23 operations) and malar/zygomatic reconstruction/augmentation (n=20). Lateral canthopexies accompanied by malar fat grafting were less likely to require reoperation (0% versus 72%, p=0.004). Subjects with eyelid coloboma were more likely to have exposure keratopathy (30% versus 4%, p=0.020). Grouped by risk of vision loss, 58% were "High" risk, 18% were "Moderate", and 24% were "Low". Among 78 eyes of 39 subjects, vision was "Good" in 90%, "Fair" in 5%, and "Poor" in 6%. Vision risk grading was associated with visual acuity outcomes (n=29) (p=0.050). CONCLUSIONS: In assessing long-term ophthalmological outcomes, we noted good vision despite significant periorbital anomalies. Though most eyelid colobomas can be managed with lubrication, those threatening corneal integrity should be repaired in infancy. As timely intervention may prevent visual impairment, we recommend perinatal ophthalmologist evaluation for all children with TCS. Our proposed vision risk scale may serve as a helpful paradigm by which to contemplate vision-related issues.