Ocular and Systemic Abnormalities in Punctal Agenesis.

Background: Punctal agenesis (PA) is a rare congenital anomaly that can occur in isolation or as part of an underlying syndrome. The benefit of genetic assessment in individuals with PA and clinical features that should prompt molecular workup has not been systematically studied. The aim of this study was to identify ocular and extraocular features associated with PA and determine its association with an underlying syndrome.

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.

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.

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.

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.

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.

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).

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.

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.

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).

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.

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

: 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.

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.

Use of the Masterka for complex nasolacrimal duct obstruction in children.

Background: The Masterka stent has been recommended solely for treatment of simple distal membranous nasolacrimal duct obstruction (NLDO). The purpose of this study was to evaluate the Masterka stent as a primary treatment in complex forms of NLDO, including bony ductal stenosis and proximal and serial membranous obstruction.

Methods: The medical records of patients who underwent treatment for congenital nasolacrimal duct obstruction with the monocanalicular Masterka stent were reviewed retrospectively.

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.

Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care.

Topic: Children and adults with neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a variety of ophthalmologic conditions. Plexiform neurofibromas (PNs) involving the eyelid, orbit, periorbital, and facial structures (orbital-periorbital plexiform neurofibroma [OPPN]) can result in significant visual loss in children. Equally important, OPPNs can cause significant alteration in physical appearance secondary to proptosis, ptosis, and facial disfigurement, leading to social embarrassment and decreased self-esteem.

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.

Indirect internal carotid-cavernous fistula in infancy.

A 4-month-old male infant with proptosis and episcleral injection initially thought to have orbital inflammation was found to have an indirect carotid-cavernous sinus fistula. He was treated conservatively without worsening of symptoms. The authors report the first case of indirect carotid-cavernous sinus fistula in an infant originating from the internal carotid artery.

Orbital and Periorbital Extension of Congenital Dacryocystoceles: Suggested Mechanism and Management.

Orbital and periorbital extension of congenital dacryocystoceles is rarely observed in neonatal infants. The authors describe 4 cases of congenital dacryocystocele that presented with extension to the orbital and periorbital regions. The first 3 newborns underwent marsupialization of the orbital and periorbital dacryocystoceles with aspiration of the purulent material followed by nasolacrimal duct probing after radiographic evidence of diffuse orbital or periorbital expansion.