A Case of Non-Syndromic Congenital Cataracts Caused by a Novel Variant in the C-Terminal DNA-Binding Domain-Case Report and Literature Review.

The gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the variants in the C-terminal DNA-binding domain associated with non-syndromic congenital cataracts and describe a patient with a novel, disease-causing de novo missense variant. Published reports of C-terminal variants and their associated congenital cataracts and ophthalmic findings were reviewed.

Bilateral nonarteritic ischemic optic neuropathy and retinal ischemia in a pediatric dialysis patient.

A nearly 3-year-old boy on nightly dialysis presented emergently with sudden loss of vision. On examination, his visual acuity was light perception in the right eye and no light perception in the left eye. There was bilateral optic disk edema, diffuse pallor of posterior poles, and a cherry red spot in the left fundus.

Case report: ocular manifestations of a gain-of-function mutation in , a newly diagnosed disease.

Background: In 2020, a new disease was reported by Polovitskaya et al., caused by a monoallelic, gain-of-function mutation in , encoding the ClC-6 Cl-/H±exchanger.

Methods: Here, we report the ophthalmic findings of one of the first three patients with this disease (the proband) and review the findings in the other two patients in the literature.

Multimodal imaging of an acute presentation of ocular histoplasmosis syndrome in an immunocompetent patient.

Purpose: Presumed ocular histoplasmosis syndrome (POHS) is a posterior segment disorder that is usually subclinical unless choroidal neovascular membrane (CNVM) develops. It is thought to be the sequela of a prior systemic infection with , and evidence supporting this association is based on epidemiologic, animal, and few enucleation studies. Acute presentation of chorioretinal involvement during an initial histoplasmosis systemic infection in immunocompetent patients is rarely reported, presumably due to the usual lack of or minimal symptoms of both the systemic and ocular disease.

A Pilot Randomized Clinical Trial of Base-in Relieving Prism Spectacle Treatment of Intermittent Exotropia.

Significance: This pilot randomized trial, the first to evaluate a specific base-in relieving prism treatment strategy for childhood intermittent exotropia, did not support proceeding to a full-scale clinical trial. Defining and measuring prism adaptation in children with intermittent exotropia are challenging and need further study.

Purpose: This study aimed to determine whether to proceed to a full-scale trial of relieving base-in prism spectacles versus refractive correction alone for children with intermittent exotropia.

Assessment of the Web Site Availability and Content of Pediatric Ophthalmology Fellowship Programs: A Cross-Sectional Nationwide Study.

 Fellowship program Web sites are a crucial source of information for prospective pediatric ophthalmology applicants, especially in light of the restrictions on in-person interactions due to the coronavirus disease 2019 pandemic.  This study examined all pediatric ophthalmology fellowship Web sites for availability and presented recruitment and training content.  A full list of all pediatric ophthalmology and strabismus (POAS) fellowship programs were compiled from the Association of University Professors of Ophthalmology (AUPO) directory and the San Francisco Match (SFMatch) application listing.

Neonatal eyelid penetration from insertion of a fetal scalp electrode: a case report.

Background: A fetal scalp electrode (FSE), first described by Edward Hon in 1967, is an intrapartum monitoring device embedded directly into the fetal scalp for an accurate measure of fetal heart rate. Though use of an FSE is generally safe, complications can occur from misplacement, including ophthalmic injury.

Case Presentation: Patient was a 28-year-old G6P5006 who presented for induction of labor at 39 weeks due to asymptomatic bilateral pulmonary embolism.

Association of Pediatric Strabismus and Functional Impairment: A Cross-sectional Nationwide Analysis.

Purpose: To examine the association of childhood strabismus with functional limitation to identify particular domains of impairment.

Methods: The authors analyzed 201 children ages 5 to 17 years with strabismus enrolled in the 1996-2015 Medical Expenditure Panel Surveys, representative annual surveys of the U.S.

Visual Acuity and Ophthalmic Outcomes 5 Years After Cataract Surgery Among Children Younger Than 13 Years.

Importance: Cataract is an important cause of visual impairment in children. Data from a large pediatric cataract surgery registry can provide real-world estimates of visual outcomes and the 5-year cumulative incidence of adverse events.

Objective: To assess visual acuity (VA), incidence of complications and additional eye operations, and refractive error outcomes 5 years after pediatric lensectomy among children younger than 13 years.

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

Purpose: Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease.

Concussion Alters Dynamic Pupillary Light Responses in Children.

Aim: To investigate the impact of concussion on pupillary function in children by examining pupillometric parameters and assessing for differences in children reporting photosensitivity.

Methods: Retrospective chart review was performed of pediatric patients referred for visual symptoms after concussion from 2017 to 2018 seen in a single academic outpatient clinic. Pupillometry data of 92 patients were included.

Secondary intraocular lens implantation using the flanged intrascleral fixation technique in pediatric aphakia: case series and review of literature.

Purpose: To present a pediatric case series in which the flanged intrascleral intraocular lens (IOL) fixation technique (Yamane technique) was used to correct aphakia.

Methods: The surgical database of a single tertiary children's hospital was reviewed to identify all patients who underwent secondary IOL implantation by a single surgeon from May 2018 to January 2020. The medical records and operative reports of all patients operated on using the Yamane technique were reviewed retrospectively.

The Long-term Visual Outcomes of Primary Congenital Glaucoma.

Purpose: To evaluate the long-term visual outcomes of ab externo trabeculotomy for primary congenital glaucoma (PCG) at a single pediatric ophthalmology center.

Methods: In this retrospective single-center case series, data from 63 eyes of 40 patients who underwent ab externo trabeculotomy between September 2006 and June 2018 were included. The data were analyzed for best corrected visual acuity (BCVA), stereopsis, and surgical success.

Establishing a normative database for quantitative pupillometry in the pediatric population.

Background: Pupillary evaluation is a crucial element of physical exams. Noting size, reactivity, and consensual response is critical in assessing for optic nerve dysfunction. We aim to establish normative data for scotopic pupillary size and function in the pediatric population in a clinical setting.

A case of acquired Brown syndrome treated with adalimumab.

We present the case of a 4-year-old boy with acquired Brown syndrome of inflammatory origin. Without evidence of systemic inflammation, the disease typically resolves with oral steroids or nonsteroidal anti-inflammatory drugs. Refractory cases can be treated with local steroid injections or surgery.

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

: Congenital disorders of glycosylation (CDG) are a group of hereditary multisystem disorders characterized by hypoglycosylation of glycoproteins. CDG type I results in a defect in the assembly of lipid-linkedoligosaccharides or their transfer onto nascent glycoproteins. Ocular abnormalities are common in CDG, but there is no report of detailed ophthalmologic evaluation in patients with CDG type Ig in the literature.

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

Precis: In this retrospective case series, both Baerveldt and Ahmed glaucoma drainage devices resulted in good long-term outcomes in eyes with pediatric glaucoma following cataract surgery (GFCS).

Background: The aim of this study was to describe the long-term safety and efficacy of primary glaucoma drainage device surgery in patients with pediatric GFCS.

Methods: We retrospectively identified 28 eyes of 28 patients with GFCS that underwent tube shunt surgery with the Ahmed Glaucoma Valve or Baerveldt Glaucoma Implant.

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

Optic nerve aplasia (ONA) is a rare congenital anomaly with a limited number of published reports. A retrospective review was performed on seven patients with ONA seen during 2004-2017. Patient's ocular and extraocular manifestations, imaging findings, and clinical course were described.

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

Purpose: To analyze the long-term results of ab externo trabeculotomy with a Harms trabeculotome at a single, tertiary care pediatric hospital.

Methods: The medical records of pediatric patients operated on between September 2006 and June 2018 were reviewed retrospectively. Kaplan-Meier analysis was performed, with success defined as postoperative intraocular pressure (IOP) of ≤21 mm Hg, >20% reduction from preoperative IOP, and no need for further glaucoma surgery.

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

Aim: To report a large series of children having Nd:YAG laser capsulotomy in the operating room using the lateral decubitus position.

Methods: Medical records of children who underwent Nd:YAG laser capsulotomy in the operating room at Ann & Robert H. Lurie Children's Hospital of Chicago between September 2008 and April 2017 were reviewed.

Trauma-associated Pott's puffy tumor: an ophthalmologic perspective.

Pott's puffy tumor is a significant complication of frontal sinusitis that leads to frontal bone osteomyelitis and can be associated with frontal swelling, subperiosteal abscess, and intracranial abscess. It may be associated with antecedent trauma and typically presents in adolescents. Orbital involvement is rarely reported.

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

Background: Previous studies of partially accommodative esotropia (PAET) have assessed factors requiring surgery and alignment outcomes. The purpose of the present study was to additionally evaluate stereoacuity in patients who required surgery for their nonaccommodative component.

Methods: The medical records of consecutive patients with PAET who underwent bilateral medial rectus recession from April 1990 to July 2010 to treat the nonaccommodative component were reviewed retrospectively.

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

Background: Marfan syndrome (MFS) is a genetic disorder that affects multiple organ systems, including the eye. The most common ocular manifestations include ectopia lentis and retinal detachment. The current literature qualitatively cites that MFS patients have miotic or "poorly dilating" pupils.

Congenital lymphocytic choriomeningitis virus-an underdiagnosed fetal teratogen.

Congenital lymphocytic choriomeningitis virus (LCMV) infection is associated with high mortality and morbidity. Although the number of cases reported in the literature has been increasing, it might still be clinically an underdiagnosed human fetal teratogen. We report 2 more cases of serologically proven congenital LCMV infection.

Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.

Purpose: To report a case of OFCD associated with a de novo BCOR pathogenic variant and highlight the ocular findings and possible mechanisms.

Methods: A retrospective chart review of the patient's ocular and systemic findings was performed. The patient underwent diagnostic whole exome sequencing (WES).