Diagnostic yield of workups ordered by pediatric ophthalmologists for bilateral pediatric cataracts at a tertiary pediatric hospital in the United States.

Background: Children with unexplained bilateral cataracts routinely undergo testing for genetic, infectious, and metabolic etiologies. We evaluated the diagnostic yield of various tests ordered by pediatric ophthalmologists to evaluate bilateral cataracts in children at a single institution.

Methods: We retrospectively identified all children with bilateral unexplained cataracts who underwent cataract surgery by a pediatric ophthalmologist at Children's Hospital Colorado from 2006 to 2022.

Prevalence of cerebrotendinous xanthomatosis among patients diagnosed with early-onset idiopathic bilateral cataracts: final analysis.

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive bile acid synthesis disorder caused by pathologic variants in CYP27A1, a gene involved in bile acid synthesis. Impaired function in this gene leads to accumulation of plasma cholestanol (PC) in various tissues, often in early childhood, resulting in such clinical signs as infantile diarrhea, early-onset bilateral cataracts, and neurological deterioration. The current study aimed to identify cases of CTX in a population of patients with a greater CTX prevalence than the general population, to facilitate early diagnosis.

Ophthalmic manifestations of ruptured arachnoid cysts in children.

Background: Intracranial arachnoid cysts are relatively common in the pediatric population. Rarely, they rupture, leading to acute subdural fluid collections, which can cause a sudden increase in intracranial pressure. The purpose of this study was to characterize ophthalmic sequelae in a large cohort of these patients.

Ganciclovir-resistant cytomegalovirus retinitis in a 4-month-old infant.

We present a case of ganciclovir-resistant cytomegalovirus retinitis (CMV) in a 4-month-old boy with congenital CMV infection. This case highlights the potential utility of a combination of intermittent viral load monitoring and retinal examinations in cases of congenital CMV with retinitis.

Physician burnout in ophthalmology: U.S. survey.

Purpose: To determine the prevalence of physician burnout among ophthalmologists in the United States and identify associated risks.

Setting: All practice types within the United States.

Design: Cross-sectional study.

Clinical Utility of Electroretinograms for Evaluating Vigabatrin Toxicity in Children.

Purpose: To determine changes in the clinical treatment of pediatric patients taking vigabatrin for seizure control in response to results of electroretinogram (ERG) performed for retinal toxicity screening.

Methods: The authors retrospectively reviewed the medical records of patients who received ERGs at Children's Hospital of Colorado from 2009 to 2012. Age, indication for ERG, ERG data, and clinical management of vigabatrin were extracted from the records.

Trends in Retinopathy of Prematurity over 12 Years in a Colorado Cohort.

Purpose: To determine trends in retinopathy of prematurity (ROP) in a Colorado cohort between 2006 and 2017 and compare trends in risk factors between our cohort and statewide data.

Methods: A retrospective cohort study was conducted by the use of records from two registry databases: 1) an academic center's ROP registry, and 2) vital statistics birth data from the Colorado Department of Public Health and Environment (CDPHE). ROP was categorized as severe (type 1 or type 2), low grade (not type 1 or type 2), or no ROP.

Perceptions of Marijuana Use for Glaucoma from Patients, Cannabis Retailers, and Glaucoma Specialists.

Purpose: As marijuana's popularity continues to grow, patients with glaucoma will encounter conflicting opinions on marijuana's role in glaucoma therapy. This study seeks to define the differing perceptions among glaucoma specialists, medical marijuana dispensaries, and glaucoma patients in a state with legalized marijuana.

Design: Cross-sectional study.

Automated syndrome diagnosis by three-dimensional facial imaging.

Purpose: Deep phenotyping is an emerging trend in precision medicine for genetic disease. The shape of the face is affected in 30-40% of known genetic syndromes. Here, we determine whether syndromes can be diagnosed from 3D images of human faces.

Keratoconus and corneal morphology in patients with Down syndrome at a pediatric hospital.

Purpose: To evaluate patients with Down syndrome for keratoconus and corneal abnormalities using Scheimpflug imaging (Pentacam HR) in a pediatric setting.

Methods: The Pentacam scans of patients with Down syndrome seen at Children's Hospital Colorado Ophthalmology Department were reviewed retrospectively, and the following data were collected: keratometry values, pachymetry values, components of the Belin ABCD Grading System, the Belin/Ambrosio enhanced ectasia display D value, and topometric indices, including ISV, IVA, and KI. Subjective interpretation was used to classify scans as normal, abnormal, keratoconus suspect, and definite keratoconus.

Ocular Findings in Pontine Tegmental Cap Dysplasia.

Purpose: To describe the ocular complications experienced by patients with pontine tegmental cap dysplasia (PTCD) and the management strategies used to care for these children.

Methods: Subjects with PTCD were recruited through social media advertisement and completed a survey gathering information on potential ocular problems related to the patient's PTCD disease and any current or previous treatments.

Results: Twenty-two patients or guardians completed the survey.

Comparison between weight gain and Fenton preterm growth z scores in assessing the risk of retinopathy of prematurity.

Several studies have shown that postnatal weight gain is a significant predictor for retinopathy of prematurity (ROP) in preterm infants. Using a cohort of 1,301 infants from a single-center ROP registry, we investigated whether incorporation of changes in Fenton preterm growth curve z scores (ie, deviation from the population average) provides improved predictive ability for developing ROP compared to weight gain alone. Three logistic regressions were fit to severe ROP: (1) baseline model that included gestational age and birth weight, (2) the baseline model adding weight gain, and (3) the baseline model adding change in z score.

COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective.

COL4A1 mutations present with a spectrum of clinical phenotypes often involving the cerebrovascular and ophthalmic systems. We report 2 cases of COL4A1 mutations that presented with congenital cataracts and porencephaly. Both patients had posterior cortical cataracts and radiographically defined bilateral posterior lenticonus.

Retinal Findings in Young Children With Increased Intracranial Pressure From Nontraumatic Causes.

Objectives: Increased intracranial pressure (ICP) has been suggested in legal settings as an alternative cause of retinal hemorrhages (RHs) in young children who may have sustained abusive head trauma. We assessed the prevalence and characteristics of RHs in children with increased ICP.

Methods: We conducted a prospective, multicenter study of children <4 years old with newly diagnosed increased ICP as determined by using direct measurement and/or clinical criteria.

The role of the maternal and fetal inflammatory response in retinopathy of prematurity.

Problem: There is a paucity of research on the contribution of placental inflammation to severe retinopathy of prematurity (ROP).

Method Of Study: A retrospective cohort study (n = 1217) was conducted of infants screened for ROP (2006-2016). The outcomes of the study were severe ROP (type 1 or type 2 ROP) and low grade ROP.

Validation of the Colorado Retinopathy of Prematurity Screening Model.

Importance: The Colorado Retinopathy of Prematurity (CO-ROP) model uses birth weight, gestational age, and weight gain at the first month of life (WG-28) to predict risk of severe retinopathy of prematurity (ROP). In previous validation studies, the model performed very well, predicting virtually all cases of severe ROP and potentially reducing the number of infants who need ROP examinations, warranting validation in a larger, more diverse population.

Objective: To validate the performance of the CO-ROP model in a large multicenter cohort.

Maternal Serum Eye Drops in the Management of Pediatric Persistent Corneal Epithelial Defects: A Case Series.

Purpose: We report our experience with the use of maternally derived serum eye drops as adjunctive treatment in the management of pediatric persistent corneal epithelial defects.

Methods: Five eyes of 4 patients were identified in a retrospective review of pediatric patients with persistent corneal epithelial defects who received maternal serum drops. Diagnoses associated with the defects comprised pontine tegmental cap dysplasia with bilateral cranial nerve V1, V2, V3, and VII palsies; pontine tegmental cap dysplasia with left cranial nerve V1, VII, and VIII palsies; traumatic left cranial nerve II, V1, V2, and VI palsies due to a basilar skull fracture; and Stevens-Johnson syndrome with ocular involvement.

The relationship of the subtypes of preterm birth with retinopathy of prematurity.

Background: Retinopathy of prematurity is an adverse outcome of preterm birth and is a leading cause of childhood blindness. The relationship between the subtypes of preterm birth with retinopathy of prematurity is understudied.

Objective: To investigate whether there is a difference in the incidence of type 1 or type 2 retinopathy of prematurity in infants with preterm birth resulting from spontaneous preterm labor, a medical indication of preterm birth, or preterm premature rupture of the membranes.

Pediatric Intraocular Immature Teratoma Associated With Sacrococcygeal Teratoma.

Intraocular teratomas are rare neoplasms with only three previously reported cases. We present the fourth case of intraocular teratoma and the second associated with sacrococcygeal teratoma. While the nature of the association between intraocular teratomas and sacrococcygeal teratomas is unclear, it suggests a need for careful ophthalmologic follow-up of infants with congenital sacrococcygeal teratomas.

Validation of WINROP for detecting retinopathy of prematurity in a North American cohort of preterm infants.

Background: WINROP (weight, insulin-like growth factor 1, neonatal, retinopathy of prematurity) is a web-based retinopathy of prematurity (ROP) risk algorithm that uses postnatal weight gain as a surrogate of insulin-like growth factor-1 (IGF-1) to predict the risk of severe ROP in premature infants. The purpose of this study was to validate the web-based algorithm WINROP in detecting severe (type 1 or type 2) ROP in a North American cohort of infants.

Methods: The records of consecutive infants who underwent ROP examinations between 2008 and 2011 were reviewed retrospectively.

Amniotic membrane transplants in the pediatric population.

Purpose: To investigate the indications for and results of amniotic membrane transplantation (AMT) for the treatment of ocular disease in pediatric patients at a single institution.

Methods: The medical records of patients <18 years of age who underwent AMT for ocular disease between January 1, 2003, and September 1, 2015, were reviewed retrospectively. Patients were determined to have reached a clinical endpoint if there was resolution of the ocular condition being treated after AMT placement, no additional surgery required for treatment of the ocular condition, and no active disease at most recent follow-up.

The Relationship of Novel Plasma Proteins in the Early Neonatal Period With Retinopathy of Prematurity.

Purpose: Retinopathy of prematurity (ROP) is a vision-threatening disease associated with abnormal retinal vascular development. Proteins from the insulin-like growth factor pathway are related to ROP. However, there is a paucity of research on the role of other proteins in ROP.