ABSTRACT
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.
Subject(s)
Health Literacy , Optometry , Humans , Eye , Healthcare Disparities , Vulnerable Populations , Eye Injuries/prevention & control , Eye Diseases/prevention & control , Ophthalmology , OphthalmologistsABSTRACT
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical information for 9 previously reported individuals, and review an additional 27 published cases to present a total of 54 patients. Among these are 22 individuals with point mutations or in-frame deletions in the DNA-binding domain (DBD), and 32 individuals with other types of variants including whole-gene deletions, nonsense and frameshift variants, and point mutations outside the DBD. We corroborate previously described clinical characteristics including developmental delay, intellectual disability, autism spectrum disorder diagnoses/features thereof, cognitive/behavioral anomalies, hypotonia, feeding difficulties, abnormal brain MRI findings, and seizures. We also confirm a vision phenotype that includes optic nerve hypoplasia, optic atrophy, and cortical visual impairment. Additionally, we expand the vision phenotype to include alacrima and manifest latent nystagmus (fusional maldevelopment), and we broaden the behavioral phenotypic spectrum to include a love of music, an unusually good long-term memory, sleep difficulties, a high pain tolerance, and touch sensitivity. Furthermore, we provide additional evidence for genotype-phenotype correlations, specifically supporting a more severe phenotype associated with DBD variants.
Subject(s)
COUP Transcription Factor I/genetics , Intellectual Disability/genetics , Optic Atrophies, Hereditary/genetics , Seizures/genetics , Codon, Nonsense/genetics , DNA-Binding Proteins , Female , Frameshift Mutation/genetics , Genetic Association Studies , Humans , Intellectual Disability/complications , Intellectual Disability/physiopathology , Male , Mutation/genetics , Optic Atrophies, Hereditary/complications , Optic Atrophies, Hereditary/physiopathology , Point Mutation/genetics , Seizures/complications , Seizures/physiopathologyABSTRACT
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.
Subject(s)
Craniosynostoses/diagnosis , Craniosynostoses/therapy , Child , Child, Preschool , Humans , Infant , Infant, Newborn , Practice Guidelines as TopicABSTRACT
PURPOSE: To present a 3-year-old female patient with a non-familial, isolated, unilateral case of left corneal anesthesia with MRI-confirmed congenital left trigeminal nerve aplasia. OBSERVATIONS: A corneal epithelial defect was noted in the left eye after an 8-week trial of recombinant human nerve growth factor. Subsequent evaluation and fitting of a PROSE (prosthetic replacement of the ocular surface ecosystem) lens led to healing of the corneal epithelium and visual acuity improvement from 20/300 to 20/70. CONCLUSIONS AND IMPORTANCE: A scleral lens may be a possible treatment for those with neurotrophic keratitis in which a trial of topical lubrication and human nerve growth factor has not been effective.
ABSTRACT
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.
Subject(s)
Cornea/pathology , Corneal Dystrophies, Hereditary/etiology , Laser Therapy/adverse effects , Lasers, Semiconductor/therapeutic use , Postoperative Complications , Retinopathy of Prematurity/surgery , Visual Acuity , Adolescent , Child , Corneal Dystrophies, Hereditary/diagnosis , Female , Follow-Up Studies , Humans , Male , Retinopathy of Prematurity/diagnosis , Retrospective StudiesABSTRACT
PURPOSE: To describe the presentation, evolution, and long-term outcome of cortical visual impairment (CVI) in patients with symptomatic congenital cytomegalovirus (CMV) infection, and to identify risk factors for the development of CVI in patients with symptomatic congenital CMV. METHODS: Retrospective subanalysis of a long-term prospective cohort study with data gathered from 1982 to 2013. RESULTS: Eleven of 77 (14.3%) patients with symptomatic CMV, 0 of 109 with asymptomatic CMV, and 51 control patients had CVI. Overall, patients with symptomatic CMV had worse vision than patients with asymptomatic CMV, who in turn had worse vision than control patients. Microcephaly, intracranial calcification, dilatation of ventricles, encephalomalacia, seizure at birth, optic atrophy, chorioretinitis/retinal scars, strabismus, and neonatal onset of sensorineural hearing loss were risk factors associated with CVI. CONCLUSIONS: CVI may result from symptomatic congenital CMV infection. The relationship of CVI and its risk factors in patients with CMV suggests the potential to predict the development of CVI through predictive modeling in future research. Early screening of CVI in children born with symptomatic congenital CMV can facilitate educational, social, and developmental interventions. [J Pediatr Ophthalmol Strabismus. 2019;56(3):194-202.].
Subject(s)
Cytomegalovirus Infections/congenital , Cytomegalovirus , Vision Disorders/etiology , Visual Acuity , Visual Cortex/physiopathology , Adolescent , Adult , Child , Child, Preschool , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/virology , Eye Infections, Viral/complications , Eye Infections, Viral/congenital , Female , Follow-Up Studies , Gestational Age , Humans , Magnetic Resonance Imaging , Male , Prospective Studies , Retrospective Studies , Risk Factors , Time Factors , Vision Disorders/physiopathology , Visual Cortex/diagnostic imaging , Young AdultABSTRACT
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).
Subject(s)
Brain Ischemia/etiology , Brain Ischemia/physiopathology , Dilatation, Pathologic/etiology , Intracranial Hypertension/complications , Optic Neuropathy, Ischemic/etiology , Optic Neuropathy, Ischemic/physiopathology , Dilatation, Pathologic/pathology , Dilatation, Pathologic/physiopathology , Eye/blood supply , Humans , Intracranial Hypertension/physiopathology , Laminectomy/adverse effects , Lumbar Vertebrae/surgery , Magnetic Resonance Imaging , Male , Middle Aged , Optic Disk/pathology , Optic Disk/physiopathology , Optic Nerve/blood supply , Optic Nerve/pathology , Optic Nerve/physiopathology , Optic Neuropathy, Ischemic/pathology , Postoperative Complications/etiology , Postoperative Complications/pathology , Postoperative Complications/physiopathology , Prone Position/physiology , Vasodilation/physiology , Veins/pathology , Veins/physiopathology , Vision, Low/etiology , Vision, Low/physiopathologyABSTRACT
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.
Subject(s)
Eye Diseases/epidemiology , Hospitals, Pediatric/statistics & numerical data , Inpatients/statistics & numerical data , Ophthalmology/statistics & numerical data , Pediatrics/statistics & numerical data , Referral and Consultation/statistics & numerical data , Adolescent , Adult , Child , Child, Hospitalized , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Infant, Newborn , Male , Retrospective Studies , Texas/epidemiologyABSTRACT
PURPOSE: To identify the ocular features of the chromosome 22q11.2 deletion syndrome and to provide ophthalmologic examination recommendations for affected patients. METHODS: Ocular abnormalities were evaluated prospectively in patients with 22q11.2 deletion at the Children's Hospital of Philadelphia between 1997 and 1999. RESULTS: Ninety patients with confirmed 22q11.2 deletion were examined. Posterior embryotoxon was found in 49%, tortuous retinal vessels in 34%, eyelid hooding in 20%, strabismus in 18%, ptosis in 4%, amblyopia in 4%, and tilted optic nerves in 1%. CONCLUSIONS: The high incidence of ocular conditions that can potentially affect visual development suggest that children with 22q11.2 deletion should undergo a comprehensive eye examination upon diagnosis of the condition with follow-up as indicated by the findings in each case. In addition, knowledge of the ocular findings, in conjunction with certain cardiac, otolaryngologic, immunologic, and other systemic findings, may alert physicians to the possibility of a chromosome 22q11.2 deletion.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , DiGeorge Syndrome/genetics , Eye Abnormalities/genetics , Abnormalities, Multiple/diagnosis , Adolescent , Adult , Child , Child, Preschool , Eye Abnormalities/diagnosis , Female , Humans , In Situ Hybridization, Fluorescence , Infant , Infant, Newborn , Male , Prospective StudiesABSTRACT
BACKGROUND: Cytomegalovirus (CMV) is the most common congenital viral infection in the United States. Visual and ocular sequelae in adolescents and adults who are congenitally infected with CMV have not been well studied. Better understanding of the long-term visual and ocular sequelae can help with early detection, intervention and appropriate educational accommodations. METHODS: This study evaluated 237 patients (77 symptomatic, 109 asymptomatic and 51 control) who underwent a series of age-appropriate ophthalmologic, audiologic and neurodevelopmental examinations from 1982 to 2013. The frequency and etiology of visual impairment and other nonophthalmologic findings were recorded for each patient. Ophthalmologic findings were tabulated, and risk factors for abnormalities were analyzed. RESULTS: Fourteen of the 77 (18.2%) symptomatic and none of the asymptomatic and control subjects had severe visual impairments (P ≤ 0.006). Moderate visual impairment did not differ between symptomatic and asymptomatic subjects. Three asymptomatic subjects had retinal scars. The most common visual or ocular sequelae in the symptomatic group were strabismus (23.4%), chorioretinal scars (19.5%), cortical visual impairment (14.3%), nystagmus (14.3%) and optic nerve atrophy (11.7%). Three symptomatic patients had delayed visual deterioration because of later occurring retinal disorders: peripheral retinal scar, rhegmatogenous retinal detachment and Coats' disease. CONCLUSION: Symptomatic CMV patients experienced more ophthalmologic sequelae and significantly worse visual outcomes than asymptomatic CMV and control patients. Later occurring retinal disorders were found in symptomatic patients, and there is no clear evidence that CMV can reactivate in the retinas of children who were congenitally infected. Major risk factors for severe visual impairment included symptomatic status, optic nerve atrophy, chorioretinitis, cortical visual impairment and sensorineural hearing loss.
Subject(s)
Cytomegalovirus Infections , Eye Infections, Viral , Vision Disorders , Adolescent , Adult , Birth Weight , Child , Child, Preschool , Chronic Disease , Cytomegalovirus Infections/complications , Cytomegalovirus Infections/congenital , Cytomegalovirus Infections/epidemiology , Eye Infections, Viral/complications , Eye Infections, Viral/congenital , Eye Infections, Viral/epidemiology , Female , Gestational Age , Humans , Infant , Infant, Newborn , Longitudinal Studies , Male , Strabismus/epidemiology , Strabismus/etiology , Vision Disorders/epidemiology , Vision Disorders/etiology , Young AdultABSTRACT
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.
Subject(s)
Astrocytoma/therapy , Ependymoma/therapy , Infratentorial Neoplasms/therapy , Medulloblastoma/therapy , Oculomotor Muscles/physiopathology , Visual Acuity/physiology , Adolescent , Astrocytoma/diagnostic imaging , Astrocytoma/physiopathology , Child , Child, Preschool , Ependymoma/diagnostic imaging , Ependymoma/physiopathology , Female , Humans , Infant , Infratentorial Neoplasms/diagnostic imaging , Infratentorial Neoplasms/physiopathology , Magnetic Resonance Imaging , Male , Medulloblastoma/diagnostic imaging , Medulloblastoma/physiopathology , Nystagmus, Pathologic/physiopathology , Nystagmus, Pathologic/surgery , Retrospective Studies , Strabismus/physiopathology , Strabismus/surgeryABSTRACT
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.
Subject(s)
Mobius Syndrome/genetics , Tubulin/genetics , Child , Child, Preschool , Cohort Studies , Exome , Eye Diseases, Hereditary/genetics , Facial Paralysis/congenital , Facial Paralysis/genetics , Female , Humans , Infant , Male , Malformations of Cortical Development/genetics , Muscular Diseases/genetics , Mutation , Ocular Motility Disorders/genetics , Ophthalmoplegia/genetics , Orbital Diseases/genetics , Pedigree , Tubulin/metabolism , Exome SequencingABSTRACT
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.
Subject(s)
Acrocephalosyndactylia/genetics , Eye Abnormalities/genetics , Mutation , Receptor, Fibroblast Growth Factor, Type 2/genetics , Acrocephalosyndactylia/metabolism , Acrocephalosyndactylia/pathology , Astigmatism/genetics , Child , Child, Preschool , Eye Abnormalities/metabolism , Eye Abnormalities/pathology , Female , Follow-Up Studies , Genetic Predisposition to Disease , Genotype , Humans , Male , Phenotype , Refractive Errors/genetics , Retrospective Studies , Severity of Illness Index , Strabismus/geneticsSubject(s)
Amblyopia/therapy , Oculomotor Muscles/surgery , Ophthalmologic Surgical Procedures/methods , Sensory Deprivation , Strabismus/therapy , Amblyopia/complications , Amblyopia/physiopathology , Child , Child, Preschool , Humans , Oculomotor Muscles/physiopathology , Patient Compliance , Strabismus/complications , Strabismus/physiopathology , Treatment Outcome , Visual AcuityABSTRACT
We report a case of unilateral cataract with a posterior located central opacity greater than 3 mm in diameter, which resolved without surgical intervention in an otherwise healthy child.
Subject(s)
Cataract/physiopathology , Lens, Crystalline/physiopathology , Humans , Infant, Newborn , Male , Recovery of Function , Remission, SpontaneousABSTRACT
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.
Subject(s)
Hamartoma/diagnosis , Neuroglia/pathology , Neurons/pathology , Orbital Diseases/diagnosis , Tonic Pupil/congenital , Tonic Pupil/diagnosis , Humans , Infant , Magnetic Resonance Imaging , MaleSubject(s)
Blepharoptosis/etiology , Contact Lenses, Hydrophilic/adverse effects , Adolescent , Adult , Female , Humans , Male , Retrospective Studies , Risk FactorsABSTRACT
Evaluation of children with optic nerve abnormalities is challenging. Fundus photography, ocular coherence tomography, visual field testing, color vision evaluation, neuroimaging, and genetic testing are helpful in the diagnosis and management of these patients. Importantly, many optic nerve problems are not isolated but occur in association with systemic and central nervous system anomalies. The ophthalmologist thus plays a critical role in recognizing patients who warrant systemic and neurologic assessment.
Subject(s)
Diagnostic Techniques, Ophthalmological , Eye Abnormalities/diagnosis , Optic Nerve/abnormalities , Child , Child, Preschool , Color Perception Tests , Humans , Infant , Molecular Diagnostic Techniques , Photography , Tomography, Optical Coherence , Vision Disorders/diagnosis , Visual Field Tests , Visual FieldsABSTRACT
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.