The Importance of Health Literacy in Addressing Eye Health and Eye Care Disparities.

Disparities in eye health and eye care frequently result from a lack of understanding of ocular diseases and limited use of ophthalmic health services by various populations. The purpose of this article is to describe the principle of health literacy and its central role in enhancing health, and how its absence can result in poorer health outcomes. The article evaluates the current status of health literacy in visual health and disparities that exist among populations. It also explores ways to improve health literacy as a means of reducing disparities in visual health and eye care. Advancing dissemination of health information and enhancing health literacy may help not only to reduce healthcare barriers in the underserved populations but also to lessen visual health disparities.

Band keratopathy in children previously treated with diode laser for type 1 retinopathy of prematurity.

Band keratopathy is a corneal degeneration caused by chronic inflammation, systemic abnormalities, or, rarely, a primary biallelic SLC4A4 mutation leading to calcium hydroxyapatite deposition in Bowman's layer. We report a series of 16 eyes of 10 children with a remote history of diode laser treated retinopathy of prematurity who developed late-onset band keratopathy without evidence of other prior risk factors. The majority of patients developed band keratopathy bilaterally. Five eyes had visually significant central band keratopathy that required treatment with disodium ethylenediaminetetracetic acid (EDTA) chelation or phototherapeutic keratectomy. Band keratopathy may be an underreported late ophthalmic complication of diode-laser treated retinopathy of prematurity.

Visual and ocular motor outcomes in children with posterior fossa tumors.

PURPOSE: To describe the clinical characteristics and visual and ocular motor outcomes of a large cohort of pediatric patients treated for tumors of the posterior cranial fossa. METHODS: The medical records of all patients with posterior fossa tumors evaluated by the ophthalmology services at two large tertiary care academic hospitals between 2005 and 2011 were reviewed retrospectively. Data abstracted for each study patient included demographic information, presenting signs and symptoms, pathologic diagnosis, and results of the most recent ophthalmology examination. RESULTS: A total of 139 patients were included. Visual outcomes were categorized as "good" (bilateral acuity of 20/20-20/40) in 101 patients (72.7%), "fair" (<20/40-20/200 in one or both eyes) in 12 patients (8.6%), or "poor" (<20/200 in one or both eyes) in 9 patients (6.5%). Patients with medulloblastoma and ependymoma had a significantly greater risk of a poor or fair visual outcome than those with juvenile pilocytic astrocytoma (both P < 0.05), independent of age and sex. Thirty-two patients (23.0%) developed nystagmus, and 59 patients (42.4%) developed strabismus. Twenty-four patients (17.3%) underwent eye muscle surgery for persistent strabismus. CONCLUSIONS: The majority of patients had good visual outcomes, although ocular motor abnormalities were common. Tumor type was a significant risk factor for permanent vision loss.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Moebius syndrome is characterized by congenital unilateral or bilateral facial and abducens nerve palsies (sixth and seventh cranial nerves) causing facial weakness, feeding difficulties, and restricted ocular movements. Abnormalities of the chest wall such as Poland anomaly and variable limb defects are frequently associated with this syndrome. Most cases are isolated; however, rare families with autosomal dominant transmission with incomplete penetrance and variable expressivity have been described. The genetic basis of this condition remains unknown. In a cohort study of nine individuals suspected to have Moebius syndrome (six typical, three atypical), we performed whole-exome sequencing to try to identify a commonly mutated gene. Although no such gene was identified and we did not find mutations in PLXND1 and REV3L, we found a de novo heterozygous mutation, p.E410K, in the gene encoding tubulin beta 3 class III (TUBB3), in an individual with atypical Moebius syndrome. This individual was diagnosed with near-complete ophthalmoplegia, agenesis of the corpus callosum, and absence of the septum pellucidum. No substantial limb abnormalities were noted. Mutations in TUBB3 have been associated with complex cortical dysplasia and other brain malformations and congenital fibrosis of extraocular muscles type 3A (CFEOM3A). Our report highlights the overlap of genetic etiology and clinical differences between CFEOM and Moebius syndrome and describes our approach to identifying candidate genes for typical and atypical Moebius syndrome.

Parameters of care for craniosynostosis.

BACKGROUND: A multidisciplinary meeting was held from March 4 to 6, 2010, in Atlanta, Georgia, entitled "Craniosynostosis: Developing Parameters for Diagnosis, Treatment, and Management." The goal of this meeting was to create parameters of care for individuals with craniosynostosis. METHODS: Fifty-two conference attendees represented a broad range of expertise, including anesthesiology, craniofacial surgery, dentistry, genetics, hand surgery, neurosurgery, nursing, ophthalmology, oral and maxillofacial surgery, orthodontics, otolaryngology, pediatrics, psychology, public health, radiology, and speech-language pathology. These attendees also represented 16 professional societies and peer-reviewed journals. The current state of knowledge related to each discipline was reviewed. Based on areas of expertise, four breakout groups were created to reach a consensus and draft specialty-specific parameters of care based on the literature or, in the absence of literature, broad clinical experience. In an iterative manner, the specialty-specific draft recommendations were presented to all conference attendees. Participants discussed the recommendations in multidisciplinary groups to facilitate exchange and consensus across disciplines. After the conference, a pediatric intensivist and social worker reviewed the recommendations. RESULTS: Consensus was reached among the 52 conference attendees and two post hoc reviewers. Longitudinal parameters of care were developed for the diagnosis, treatment, and management of craniosynostosis in each of the 18 specialty areas of care from prenatal evaluation to adulthood. CONCLUSIONS: To our knowledge, this is the first multidisciplinary effort to develop parameters of care for craniosynostosis. These parameters were designed to help facilitate the development of educational programs for the patient, families, and health-care professionals; stimulate the creation of a national database and registry to promote research, especially in the area of outcome studies; improve credentialing of interdisciplinary craniofacial clinical teams; and improve the availability of health insurance coverage for all individuals with craniosynostosis.

Transient selective downward gaze paralysis complicating posterior fossa tumor resection in children. Report of 2 cases.

Selective downward gaze paralysis has not previously been described as a complication after posterior fossa operations in children. The authors found downgaze palsy to be a transient complication after resection of large pediatric posterior fossa midline tumors reaching the aqueduct of Sylvius. They reviewed the cases of 2 children with large posterior fossa midline tumors who underwent resection via an inferior transventricular approach. They developed a hypothetical scheme to account for downward gaze paralysis based on anatomy and insight gained from experimental studies. The authors describe potential risk factors for developing transient selective downward gaze paralysis with the hope of making more pediatric neurosurgeons aware of this complication following removal of lesions around the mesencephalic periaqueductal gray matter. Recognition and understanding of downward gaze palsy after posterior fossa surgery should improve preoperative counseling and promote postoperative family coping.

The frequency of ocular abnormalities in inpatient pediatric ophthalmology consultations.

OBJECTIVE: To determine the frequency, type, and results of pediatric ophthalmology service consultations at a tertiary care children's hospital and to offer advice as to the timing of the initial consultation based on the patient's diagnosis and likelihood of ocular disease, METHOD: A retrospective evaluation of inpatient ophthalmology consultations from September 1, 2003, to August 31, 2004, at Texas Children's Hospital was conducted. Patients were identified using the Current Procedural Terminology listing of billing codes for various levels of service for new initial inpatient consultations. RESULTS: During the 1-year period, 445 new inpatient consultations were requested from the pediatric ophthalmology service, primarily to rule out ophthalmic problems or manifestations (55.9%) and to evaluate ocular complaints or ocular abnormalities as noted by the primary team (44.1%). Of the 445 patients, 215 (48.3%) were found to have ocular abnormalities and 230 (51.7%) had no ocular abnormalities at the time of initial consultation. CONCLUSION: Patients with ocular signs or symptoms of disease should receive urgent ophthalmic consultation. Consideration should be given to the usefulness of urgent consultations in patients suspected of having fungemia, sepsis, and headache.

Dilated superior ophthalmic veins and posterior ischemic optic neuropathy after prolonged spine surgery.

A 55-year-old man developed bilateral posterior ischemic optic neuropathy after prolonged prone position lumbar laminectomy. Brain MRI performed 19 hours after the procedure revealed markedly dilated superior ophthalmic veins, a finding that had disappeared on a comparable study performed 5 months later. This first report of dilated superior ophthalmic veins present in the immediate postoperative period but not later may be important in suggesting that an increase in orbital venous pressure during surgery contributes to the development of postoperative posterior ischemic optic neuropathy (PION).

Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations.

BACKGROUND/PURPOSE: Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. This study's goal was to determine ophthalmic phenotype/genotype correlations in patients with either mutation. METHODS: A retrospective chart review of demographic and ophthalmologic data was performed for 18 children carrying either the S252W (11) or the P253R (7) mutation. Fisher exact tests were performed to determine significance of variable phenotypes between the two mutation groups. RESULTS: In the P253R group, 85% had strabismus (14% required surgery), 71% had ptosis, 43% had amblyopia, 14% had nasolacrimal duct obstruction, 14% had myopia, 14% had hyperopia, and 14% had astigmatism. In the S252W group, 91% had strabismus (64% required surgery), 73% had ptosis, 73% had amblyopia, 100% had nasolacrimal duct obstruction, 36% had myopia, 9% had hyperopia, and 82% had astigmatism. Overall, S252W and P253R groups showed significantly different numbers of patients with strabismus requiring surgery (p = 0.039), superior rectus muscle underaction (p = 0.024), nasolacrimal duct obstruction (p = 0.0002), and astigmatism (p = 0.005). CONCLUSIONS: Compared with patients with the P253R mutation, Apert syndrome patients with the S252W mutation may have more severe ocular phenotypes with a higher likelihood of developing strabismus, especially vertical deviation. They also are more likely to develop astigmatic refractive errors and tearing secondary to nasolacrimal system anomalies.

Orbital neural-glial hamartoma associated with a congenital tonic pupil.

Tonic pupils in children are rare, and only a handful of reports exist in the literature. We present the case of an orbital neural-glial hamartoma in an infant with a congenital tonic pupil and no proptosis. We have previously described this association in another child. This new case, the 6-year follow-up from the previous case, and a discussion of tonic pupils are presented.