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.

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.

Cryptophthalmos: associated syndromes and genetic disorders.

PURPOSE: Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can occur in isolation or as part of an underlying syndrome. We aim to identify genetic syndromes associated with cryptophthalmos to facilitate genetic diagnosis. METHODS: We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical examination findings, and genetic testing results. RESULTS: Thirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included corneal opacities (13/13, 100%), upper eyelid colobomas (12/13, 92%), and microphthalmia/clinical anophthalmia (3/13, 23%). All cases of complete cryptophthalmos had bilateral disease. An underlying clinical or molecular diagnosis was identified in 10/13 (77%) cases, including Fraser syndrome (n = 5), amniotic band syndrome (n = 1), FREM1-related disease (n = 1), Goldenhar versus Schimmelpenning syndrome (n = 1), MOTA syndrome (n = 1), and CELSR2-related disease (n = 1). CONCLUSION: This is the first report of a possible association between cryptophthalmos and biallelic CELSR2 variants. Children with cryptophthalmos, especially those with extra-ocular involvement, should be referred for comprehensive genetic evaluation.

Outcome of silicone sling frontalis suspension in children with simple congenital and complex ptosis.

OBJECTIVE: To compare the outcome of silicone sling frontalis suspension (FS) surgery in children with simple congenital ptosis and children with complex ptosis. DESIGN: A retrospective cohort study. PARTICIPANTS: All pediatric patients who underwent silicone sling FS surgery between 2009 and 2020 at a single centre. METHODS: Patients were divided based on etiology into simple congenital ptosis and complex congenital ptosis. Pre- and postoperative margin-to-reflex distance (MRD1) measurements were determined from clinical photographs. Main outcome measures were assessed as differences in improvement in eyelid height and reoperation rate between the groups. RESULTS: Two-hundred and eight children were included: 139 simple and 69 complex cases, with 83 females (40%). Mean (±SD) age at intervention was 1.9 ± 2.9 years. Complex cases included blepharophimosis epicanthus inversus syndrome (n = 35), Marcus Gunn jaw-winking syndrome (n = 12), oculomotor palsy (n = 8), congenital fibrosis of extraocular muscles (n = 3), chronic progressive external ophthalmoplegia (n = 3), and others. Mean MRD1 improved by an average of 1.6 mm in both groups. Repeat ptosis correction was performed in 50 of 171 patients (29%) without a history of failed ptosis procedures, and this rate was similar between simple and complex cases. Children under 3 years of age had higher rates of repeat ptosis repair than older children (n = 59 of 175 [34%] vs n = 5 of 33 [15%]; p = 0.03, χ2 test). CONCLUSIONS: Silicone sling FS has a favourable outcome in 70% of pediatric patients. Preoperative and final MRD1 and reoperation rates were similar between both groups, suggesting that despite the higher complexity in atypical cases, the outcome is similar.

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.

The surgical management and outcomes of kissing nevi of the eyelids.

PURPOSE: To describe the clinical characteristics, surgical technique, and outcomes in patients with kissing nevi who underwent surgical management in two tertiary referral centers. METHODS: Medical chart review was conducted for all patients who underwent surgical repair in Moorfields Eye Hospital and The Children's Hospital of Philadelphia. Demographics, medical history, lesion characteristics, surgical intervention, and outcomes were collected. Main outcome measures were surgical interventions as well as functional and cosmetic outcomes. RESULTS: Thirteen patients were included. Mean age at presentation was 23.46 years (±19.35,4-61), and the mean number of surgeries per patients was 1.9 (±1.3,1-5). Initial procedure included incisional biopsy in three cases (23%) and complete excision and reconstruction in 10 cases (77%). Surgery involved the upper and lower anterior lamella in all cases, the upper posterior lamella in 4 patients (31%), and the lower posterior lamella in 2 patients (15%). Local flaps were utilized in 3 cases and grafts in 5 cases. Complications included: trichiasis (n = 2, 15%), lower eyelid ectropion (n = 2, 15%), mild ptosis (n = 1, 8%), and upper/lower punctal ectropion (n = 1, 8%). Twelve patients (92%) were satisfied with the final functional and cosmetic outcome. No recurrence or malignant transformation were observed in any patient. CONCLUSION: The surgical management of kissing nevi can be challenging, and commonly includes the use of local flaps or grafts, often requiring multiple interventions. The approach should be based on lesion size and location, proximity and involvement of key anatomical landmarks, as well as individual facial characteristics. Surgical management has a favorable functional and cosmetic outcome in the majority of patients.

Management of congenital nasolacrimal duct obstruction in down syndrome.

BACKGROUND: Congenital nasolacrimal duct obstruction (CNLDO) is common in Down Syndrome (DS), and more difficult to treat. Our purpose was to describe the management of CNLDO in paediatric patients with DS. METHODS: Retrospective cohort study. Medical chart review of all DS patients diagnosed with CNLDO at the Division of Ophthalmology at the Children's Hospital of Philadelphia during a 12-year period (2009-2020). Main outcome measures included: Surgical interventions, primary probing outcome, rate of dacryocystorhinostomy (DCR) and/or conjunctivodacryocystorhinostomy (CDCR), and overall success. RESULTS: 126 patients (236 eyes) were included, mean age of 1.8 ± 2.1 years (range 0.1-11.3 y), 110 (87%) had bilateral CNLDO. Mean follow-up time was 41 months. 84 patients (67%) underwent at least one surgical intervention; the mean number of surgical interventions in this group was 1.8 ± 1.4 per patient (range, 1-6). The most common primary intervention was probing (n = 74, 88%), mostly (n = 57, 68%) with monocanalicular silicone intubation. Probing with silicone intubation had a higher success rate compared to probing alone (P = 0.002). Twenty (24% of 84) patients underwent DCR/CDCR during the follow-up period. Complete resolution was achieved in 123 patients (98%). CONCLUSIONS: CNLDO in Down syndrome is associated with high rates of bilateral obstructions and with less favourable surgical outcomes. Many patients ultimately require a more robust surgical intervention such as DCR or CDCR. The use of monocanalicular stent in initial probing was associated with a higher success rate, and would appear to be appropriate in all CNLDO-DS cases.

Impact of Definitive Surgery for Graves' Disease on Adolescent Disease-Specific Quality of Life and Psychosocial Functioning.

Introduction: Pediatric Graves' disease (GD) is associated with hyperthyroid symptoms that impact psychosocial and physical functioning. Total thyroidectomy (TT) is a definitive treatment option that replaces antithyroid medication. While studies have examined health-related quality of life (QOL) in adults, there are no data describing impacts of TT in pediatrics. In this prospective longitudinal study, we explored the impact of TT on disease-specific QOL and satisfaction with TT and scar appearance in adolescent patients with GD undergoing TT. Methods: Patients 12-19 years old pursuing TT for GD and their parents were recruited to complete surveys before and at least 6 months after TT. Surveys assessed motivations for pursuing TT, QOL, perceived stigmatization, self-esteem, scar appearance, and surgery satisfaction. Paired scores were compared using Wilcoxon signed-rank tests, and subscore associations were assessed using Spearman association tests. Results: Thirty-seven patient-parent dyads completed baseline surveys, including 20 patient-parent dyads completing pre- and post-TT surveys. At baseline, patients reported physical and cognitive symptomology, including tiredness, anxiety, and emotional susceptibility through ThyPRO. Psychosocial functioning at school was low through PedsQL. Disease-specific QOL significantly improved after TT, with notable improvements associated with resolution of goiter (median change = -26.14, p = 0.003), hyperthyroid symptoms (median change = -43.75, p = 0.002), tiredness (median change = -26.79, p = 0.017), cognitive impairment (median change = -14.58, p = 0.035), anxiety (median change = -33.33, p = 0.010), and emotional susceptibility (median change = -28.99, p = 0.035). Physical (median change = 18.75, p = 0.005) and school-related functioning (median change = 30.00, p = 0.002) also significantly improved post-TT. Reported GD-associated eye symptomology (thyroid eye disease) was the second lowest scoring ThyPRO subscore at baseline and improved after surgery (median change = 14.06, p = 0.03). Families reported median recovery by two months, high satisfaction with the outcomes of TT, and minimal concerns over scar appearance. No permanent surgical complications (i.e., recurrent laryngeal nerve damage or hypoparathyroidism) were sustained. Conclusions: In the setting of a high-volume surgeon with low complication rates, TT for GD in pediatric populations may have substantial beneficial effects on disease-specific QOL and psychosocial functioning, with minimal adverse complaints about scar appearance.

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.

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.

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.

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.

Recovery of Vision after Optic Nerve Sheath Fenestration in Children and Adolescents with Elevated Intracranial Pressure.

PURPOSE: To evaluate the effect of optic nerve sheath fenestration (ONSF) on the recovery of visual function in pediatric patients with optic disc swelling owing to increased intracranial pressure. DESIGN: Retrospective case series. METHODS: Medical chart review of all pediatric patients who underwent ONSF between 2009 and 2020 at the Children's Hospital of Philadelphia. Visual function was assessed at pre and postoperative visits. The main outcome measures were visual acuity, color vision, extraocular motility, visual field mean deviation, retinal nerve fiber layer thickness measured by optical coherence tomography. RESULTS: Fourteen pediatric patients (10 females; mean ± SD age of 14 ± 2.6 years; range, 8.5-17.5 years) were included. Five patients underwent bilateral surgeries. Ten patients were diagnosed with idiopathic intracranial hypertension. Of the 10 idiopathic intracranial hypertension patients, 3 had a previous history of weight gain and 2 of systemic steroid treatment; these can be referred to as pseudotumor cerebri. The mean ± SD follow-up length was 16.4 ± 12.3 months. VA improved from 20/138 to 20/68 in the operated eye (P = .0003) and from 20/78 to 20/32 in the nonoperated eye (P = .02). Color vision improved in the operated eye (P = .04), extraocular motility improved in the operated and nonoperated eye (P = .002 and P = .04 respectively). Visual field mean deviation improved in the operated (-23.4 dB to -11.5 dB, P < .0001) and nonoperated eye (-19.8 dB to -6.8 dB, P = .02). Retinal nerve fiber layer thickness improved in the operated eye (349.1 to 66.2 µm; P < .0001). The postoperative improvement was observed as early as the postoperative day 1. CONCLUSIONS: ONSF produces a rapid and persistent vision improvement in both the operated eye and the nonoperated eye. In children and young adults with papilledema and elevated intracranial pressure causing vision loss that is severe at presentation or refractory to standard medical management, ONSF should be considered.

Management of Pediatric Graves Disease: A Review.

Importance: The incidence of Graves disease (GD) is rising in children, and adequate care of these patients requires a multidisciplinary approach. Whether patients are seen in the context of endocrinology, nuclear medicine, or surgery, it is important to know the nuances of the therapeutic options in children. Observations: Given the rarity of GD in children, it is important to recognize its various clinical presenting signs and symptoms, as well as the tests that may be important for diagnosis. The diagnosis is typically suspected clinically and then confirmed biochemically. Imaging tests, including thyroid ultrasonography and/or nuclear scintigraphy, may also be used as indicated during care. It is important to understand the indications for and interpretation of laboratory and imaging tools so that a diagnosis is made efficiently and unnecessary tests are not ordered. Clinicians should be well-versed in treatment options to appropriately counsel families. There are specific scenarios in which medical therapy, radioactive iodine therapy, or surgery should be offered. Conclusions and Relevance: The diagnosis and treatment of pediatric patients with GD requires a multidisciplinary approach, involving pediatric specialists in the fields of endocrinology, ophthalmology, radiology, nuclear medicine, and surgery/otolaryngology. Antithyroid drugs are typically the first-line treatment, but sustained remission rates with medical management are low in the pediatric population. Consequently, definitive treatment is often necessary, either with radioactive iodine or with surgery, ideally performed by experienced, high-volume pediatric experts. Specific clinical characteristics, such as patients younger than 5 years or the presence of a thyroid nodule, may make surgery the optimal treatment for certain patients.

Ocular manifestations of ectodermal dysplasia.

PURPOSE: The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED. METHODS: Retrospective case series including consecutive ED subjects who were treated in the ophthalmology department at the Children's Hospital of Philadelphia over a 12-year period (2009-2020). Main Outcome Measures were ocular and ocular adnexal abnormalities. RESULTS: Thirty subjects were included: 20 males (67%), mean age of 4.5 years (range 0.3-18). Patients with different subtypes were included, with the hypohidrotic ED and ectrodactyly-ectodermal dysplasia-clefting variants being most prevalent. Most common findings were: lacrimal drainage obstruction in 12 (40%) including punctal agenesis in 10 (33%), refractive errors in 13 (43%) and amblyopia in 6 (20%). A new finding of eyelid ptosis or eyelash ptosis was demonstrated in 11 subjects (37%), mostly associated with TP63 or EDA1 genes variants. CONCLUSION: Ectodermal dysplasias are associated with various ocular pathologies and amblyopia in the pediatric population. We report a possible genetic association between lash ptosis and EDA1 gene, and eyelid ptosis and TP63 or EDA1 genes variants.

"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.

Ocular manifestations and surgical interventions in pediatric patients with Koolen-de-Vries syndrome.

Background: Koolen-de Vries syndrome (KdVS) (OMIM #610443) or 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental and speech delay, intellectual disability, epilepsy, hypotonia, characteristic facial features, and congenital malformations of multiple organs.The purpose of the current study was to describe ocular manifestations and surgical interventions in six KdVS pediatric patients, and to review the ocular associations of this condition.Materials and Methods: A retrospective review of consecutive KdVS subjects who were treated in the ophthalmology department at The Children's Hospital of Philadelphia over a 12-year period (2009-2020) was performed. Main Outcome Measures were ocular and ocular adnexal abnormalities, and ophthalmic surgical interventions.Results: Six patients were included (4 females (67%), mean age of 3.1 years (range 0.1 to 8.1 years)). The most common ocular findings were strabismus (n = 3/6, 50%), ptosis (n = 3/6, 50%), and hyperopia (n = 3/6, 50%). Two patients had amblyopia. Four patients required surgical intervention, including strabismus repair (n = 3), and bilateral levator resection and medial canthopexies (n = 1).Conclusions: KdVS is associated with various ocular and ocular adnexal abnormalities. Most commonly ptosis, strabismus and hyperopia. Most cases required surgical intervention, most commonly strabismus repair. These findings mandate early ophthalmic evaluation with regular follow-up in this unique group of children.