Ophthalmic features of Lamb-Shaffer syndrome: a case series.

Lamb-Shaffer syndrome (LSS) is a rare neurodevelopmental disorder, genetically diagnosed in fewer than 100 individuals worldwide. We present a case series of 6 pediatric patients with LSS and describe its ophthalmic manifestations. Strabismus was present in 5 patients, with exotropia being most common. All subjects had significant refractive errors; 5 had astigmatism of at least 2 D. All patients had optic nerve abnormalities, including pallor (4), hypoplasia (2), and anomalous appearance (1), with retinal nerve fiber layer thinning demonstrated in a single subject. Other ophthalmic disorders detected were ptosis (1), nasolacrimal duct obstruction (1), and nystagmus (2).

Directors of accredited pediatric ophthalmology fellowship programs: a descriptive analysis.

PURPOSE: To examine the characteristics of pediatric ophthalmology fellowship program directors (FPDs) through cross-sectional analysis. METHODS: All pediatric ophthalmology FPDs whose programs participated in the San Francisco Match in January 2020 were included. Information was collected through publicly available sources. Scholarly activity was measured by peer-reviewed articles and the Hirsch index. RESULTS: Of the 43 FPDs, 22 (51%) were male, and 21 (49%) were female. The mean age of current FPDs was 53.5 ± 8.8 years old. There was a significant difference between the current age of male and female FPDs (57.8 ± 8 vs 49 ± 7.3, resp. [P <0.0001]). The mean term length of female and male FPDs also differed (11.5 ± 4.5 vs 16.1 ± 8.9 [P = 0.042]). Thirty-eight FPDs (88%) attended medical school in the United States. Forty-two FPDs had an MD (98%). Thirty-nine (91%) FPDs completed ophthalmology residency in the United States. Ten (23%) of the FPDs were dual fellowship trained. There was a significantly higher Hirsch-index among male than female FPDs (23.9 ± 15.7 vs 10.3 ± 10.1 [P = 0.0017]). There was a higher number of publications for male (91 ± 89) than female FPDs (31.5 ± 48.6 [P = 0.0099]). CONCLUSIONS: Pediatric ophthalmology fellowship programs have a uniquely equal representation of male and female FPDs as women continue to be underrepresented in ophthalmology. Female FPDs were younger and had spent less time in the position, suggesting a shift toward more female FPD over time.

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.

Unilateral pediatric neurotrophic keratitis due to congenital left trigeminal nerve aplasia with PROSE (prosthetic replacement of the ocular surface ecosystem) treatment.

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.

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.

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.

Subconjunctival abscess formation after strabismus surgery.

We present 5 cases of postoperative subconjunctival abscesses from two institutions and discuss their outcomes.

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.

Cortical Visual Impairment in Congenital Cytomegalovirus Infection.

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.].

An update of ophthalmic management in craniosynostosis.

Craniosynostosis has a varied clinical spectrum, ranging from isolated single suture involvement to multisutural fusions. Syndromic and nonsyndromic patients require orchestrated and multidisciplinary care from birth to adulthood. Advances in our understanding of craniosynostosis over the last quarter-century have resulted in more systematic management of the problems associated with the syndromic and nonsyndromic forms of this condition. This review provides an update on the genetic basis of, management of strabismus and oculoplastic manifestations in, and visual surveillance of patients with craniosynostosis.

Visual Complications of Pediatric Posterior Fossa Tumors: Analysis of Outcomes.

OBJECTIVE: Visual abnormalities are common among children with posterior fossa tumors, resulting from disruption of ocular afferent and efferent systems due to the tumor or surgery. This study describes the visual complications and outcomes associated with these tumors. METHODS: Clinical and radiographic data of patients who underwent index surgery for resection of posterior fossa tumor from 2007 to 2016 were reviewed. Descriptive statistics, univariate, and multivariate regression were performed to assess factors contributing to visual acuity and postoperative strabismus. RESULTS: There were 182 patients who underwent posterior fossa craniotomy for neoplasm were included. Ophthalmologic symptoms were the fourth most common presenting complaint; initial ophthalmologic examination was abnormal in 40% of patients. Evaluation of visual acuity demonstrated a good outcome in 88% of patients following treatment. The most common postoperative oculomotor finding was esotropia (29%) which resolved spontaneously in more than half of patients. A good outcome was obtained in all patients who underwent surgery for esotropia. Hypertropia was noted in 14% of the cohort and less than half resolved spontaneously; less than half undergoing strabismus surgery for hypertropia had a good outcome. Multivariate analysis confirmed the association between cerebellar mutism and postoperative esotropia and hypertropia. Clinically significant pathological nystagmus was seen in 8% of the cohort. CONCLUSIONS: Our results indicate a good visual outcome in the majority of pediatric patients undergoing resection of posterior fossa tumors. Ophthalmologic complications should be appropriately evaluated and addressed to allow for the best possible vision to survivors of posterior fossa tumors.

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.

Long-term Visual and Ocular Sequelae in Patients With Congenital Cytomegalovirus Infection.

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.

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.

Optic nerve abnormalities in children: a practical approach.

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.