Treatment rate of strabismus and amblyopia is associated with the location of pediatric ophthalmologists in the United States.

PURPOSE: To determine whether the geographic density of pediatric ophthalmologists is associated with the rate of children treated for strabismus and amblyopia. METHODS: This cross-sectional study included children treated for strabismus and amblyopia 0-17 years of age with commercial insurance who were included in the Vision and Eye Health Surveillance System. Additionally, pediatric ophthalmologists by state were determined using the American Association for Pediatric Ophthalmology and Strabismus website. Unadjusted linear regression was used to compare the geographic density of pediatric ophthalmologists and the rate of children treated for strabismus and amblyopia by state in 2016. This was repeated using multivariable linear regression, controlling for race, poverty, non-English-speaking children, and insurance coverage for children by state. RESULTS: New York and Mississippi had the highest and lowest rates of treatment of strabismus and amblyopia, with 3.97 and 0.83 children treated per 100 children, respectively. The geographic density of pediatric ophthalmologists was associated with the rate of children treated for strabismus and amblyopia in unadjusted analyses (ß = 0.62, P < 0.001). Further, the geographic density of pediatric ophthalmologists was associated with the rate of children treated for strabismus and amblyopia in adjusted analyses (ß = 0.61, P < 0.001). CONCLUSIONS: The geographic density of pediatric ophthalmologists by state was positively associated with the rate of children treated for strabismus and amblyopia.

Orbital Foraminal Morphometrics in Nonsyndromic Unilateral Coronal Craniosynostosis.

ABSTRACT: Nonsyndromic unilateral coronal craniosynostosis (UCS) is a rare congenital disorder that results from premature fusion of either coronal suture. The result is growth restriction across the suture, between the ipsilateral frontal and parietal bones, leading to bony dysmorphogenesis affecting the calvarium, orbit, and skull base. Prior studies have reported associations between UCS and visual abnormalities. The present study utilizes a novel geometric morphometric analysis to compare dimensions of orbital foramina on synostotic versus nonsynostotic sides in patients with UCS. Computed tomography head scans of pediatric UCS patients were converted into 3-dimensional mesh models. Anatomical borders of left and right orbital structures were plotted by a single trained team member. Dimensions between synostotic and nonsynostotic sides were measured and compared. Medical records were examined to determine prevalence of visual abnormalities in this patient cohort. Visual abnormalities were reported in 22 of the 27 UCS patients (77.8%). Astigmatism (66.7%), anisometropic amblyopia (44.4%), and motor nerve palsies (33.3%) represented the 3 most prevalent ophthalmologic abnormalities. Orbits on synostotic sides were 11.3% narrower ( P < 0.001) with 21.2% less volume ( P = 0.028) than orbits on nonsynostotic sides. However, average widths, circumferences, and areas were similar between synostotic and nonsynostotic sides upon comparison of supraorbital foramina, infraorbital foramina, optic foramina, and foramina ovalia. Therefore, previously proposed compression or distortion of vital neurovascular structures within bony orbital foramina does not seem to be a likely etiology of visual abnormalities in UCS patients. Future studies will examine the role of ocular and/or neuro-ophthalmologic pathology in this disease process.

Mirror movements identified in patients with moebius syndrome.

BACKGROUND: Moebius syndrome is a rare disorder with minimum clinical criteria of congenital facial weakness in association with impairment in abduction of one or both eyes. Mirror movements are not known to be associated with Moebius syndrome. CASE REPORT: We present three patients who meet minimum criteria for a diagnosis of Moebius syndrome and who also display mirror movements. DISCUSSION: This case series suggests that Moebius syndrome may be associated with mirror movements. Further investigation to delineate the genetic etiologies of Moebius syndrome is ongoing. Patients with Moebius syndrome and mirror movements may represent a specific subclass of this disorder.

Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.

Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This paper details ocular motor findings of 40 subjects (23 months to 64 years; 24 females, 16 males) with congenital facial weakness: 38 presented at a Moebius Syndrome Conference and two were clinic patients. A new classification scheme of patterns based on ocular motor phenotype is presented. Of 40 subjects, 37 had bilateral and three had unilateral facial weakness. The most common ocular motor pattern (Pattern 1, n=17, 43%) was bilateral horizontal gaze palsy with intact vertical range. Pattern 2 (n=10, 26%) was bilateral horizontal gaze palsy with variable vertical limitations. Pattern 3, which was rare, was isolated abduction deficits (n=2, 5%). Others had full motility range and did not meet minimal criteria for the diagnosis of Moebius syndrome (Pattern 4, n=10, 26%). One subject was too severely affected to characterize. Abnormal vertical smooth pursuit was present in 17 (57%) of 30 subjects: nine with Pattern 1, five with Pattern 2, and three with Pattern 4. Abnormal vertical saccades were present in 10 (34%) of 29 subjects. Vertical saccades appeared slow in nine: six with Pattern 1 and three with Pattern 2. Vertical saccades were absent in one subject with Pattern 2. Abnormal vertical optokinetic nystagmus was present in 19 (68%) of 28 subjects: 10 with Pattern 1, six with Pattern 2, one with Pattern 3, and two with Pattern 4. Reduced convergence was present in 19 (66%) of 29 subjects: nine with Pattern 1, six with Pattern 2, one with Pattern 3, and three with Pattern 4. The most common pattern of ocular motor deficit in Moebius syndrome is bilateral horizontal gaze palsy from pontine abducens nuclear defects, rather than abducens nerve involvement. Defects in the range or dynamic properties of vertical movements in subjects with congenital facial weakness may suggest involvement of ocular motor structures in the midbrain, including oculomotor nerves or nuclei, vertical supranuclear saccadic centres, and convergence neurons. Such deficits were found even in subjects with full vertical motility range. Classification of patterns of ocular motor deficits in congenital facial weakness may assist with further delineation of anatomic localization and identification of genetic deficits underlying these disorders.

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Abnormal neurodevelopment has been widely reported in combined methylmalonic aciduria (MMA) and homocystinuria, cblC type (cblC disease), but neurodevelopmental phenotypes in cblC have not previously been systematically studied. We sought to further characterize developmental neurology in children with molecularly-confirmed cblC. Thirteen children at our center with cblC, born since implementation of expanded newborn screening in New York State, undertook standard-of-care evaluations with a pediatric neurologist and pediatric ophthalmologist. At most recent follow-up (mean age 50 months, range 9-84 months), of twelve children with early-onset cblC, three (25%) had a history of clinical seizures and two (17%) meet criteria for microcephaly. A majority of children had hypotonia and nystagmus. Twelve out of thirteen (92%) underwent neurodevelopmental evaluation (mean age 41 months; range 9-76 months), each child tested with standardized parental interviews and, where possible, age- and disability-appropriate neuropsychological batteries. All patients showed evidence of developmental delay with the exception of one patient with a genotype predictive of attenuated disease and near-normal biochemical parameters. Neurodevelopmental deficits were noted most prominently in motor skills, with relative preservation of socialization and communication skills. Nine children with early-onset cblC underwent magnetic resonance imaging and spectroscopy (MRI/MRS) at mean age of 47 months (range 6-81 months); common abnormalities included callosal thinning, craniocaudally short pons, and increased T2 FLAIR signal in periventricular and periatrial white matter. Our study further characterizes variable neurodevelopmental phenotypes in treated cblC, and provides insights into the etiopathogenesis of disordered neurodevelopment frequently encountered in cblC. Plasma homocysteine and MMA, routinely measured at clinical follow-up, may be poor predictors for neurodevelopmental outcomes. Additional data from large, prospective, multi-center natural history studies are required to more accurately define the role of these metabolites and others, as well as that of other genetic and environmental factors in the etiopathogenesis of the neurologic components of this disorder.

Optical coherence tomography in the evaluation of neurofibromatosis type-1 subjects with optic pathway gliomas.

PURPOSE: Neurofibromatosis type 1 (NF1) is the most common neurocutaneous disorder, with an approximate incidence of 1 in 3,500. Optic pathway gliomas (OPGs) develop in 15% of individuals with NF1, commonly in childhood. OPGs are difficult to detect via a clinical inspection in children, often requiring magnetic resonance imaging (MRI). Given the significant visual risks associated with OPGs in NF1, there is a need for improved noninvasive techniques to diagnose OPGs in children; therefore, we studied optical coherence tomography (OCT) as a potential tool to assess optic nerve and retinal nerve fiber layer (RNFL) abnormalities. This prospective study was designed to evaluate OCT detection of RNFL loss from optic atrophy attributable to OPGs in a cohort of pediatric patients with NF1. METHODS: With the use of Stratus OCT, directed testing with the Fast Macular Thickness and Fast RNFL Thickness protocol scans were performed on 9 subjects with NF1 and known OPGs, 6 subjects with NF1 without OPGs, and 15 controls. RESULTS: NF1 subjects with OPGs had thinner RNFLs and macula when compared with age-matched controls and to NF1 subjects without OPGs. After applying the equivalence equation, the average RNFL thickness and macular volume in NF1 subjects without OPGs was equivalent to controls. CONCLUSIONS: Our study suggests that OCT can be used to detect RNFL thinning secondary to OPGs in NF1 subjects. This objective tool shows promise as a useful adjunct to routine clinical ophthalmologic evaluation in children with NF1.

Nasolacrimal metastasis from heptocellular carcinoma masquerading as dacryocystitis.

A 69-year-old man presented with a "lump" on his nose, after antibiotic therapy and warm compresses failed to resolve his presumed dacryocystitis. Because this disorder displayed atypical features (no tenderness, no redness, evidence of the greatest expansion of the nasolacrimal system inferior to the lacrimal sac fossa), a neoplastic process was considered. Orbital CT showed a mass obliterating the nasolacrimal system and maxillary sinus. Evaluation of the biopsy specimen revealed metastatic hepatocellular carcinoma of the orbit, making this case the first documentation of this disorder in the nasolacrimal system. Postoperative evaluations revealed an occipital lobe metastasis, and the patient died several months later from his intracranial disease. Clinicians should be aware of this entity, and the presence of atypical features warrants careful evaluation with specific consideration of neoplastic disease.

Newborn screening coupled with comprehensive follow-up reduced early mortality of sickle cell disease in Connecticut.

To assess the impact of newborn screening (NBS) on the mortality of children with sickle cell anemia, we analyzed the Connecticut death certificates of all children less than 15 years old at death. We compared sickle cell-related deaths in three periods: 1970-1988 when there was no state NBS; between 1988 and 1990 when there was limited state NBS; and 1990-2002 when universal NBS was in effect in Connecticut. In the period 1988-2002, we identified all death certificate records in which sickle cell anemia was listed as a cause of death and compared these with children who were shown to have sickle cell anemia (Hb SS and sickle-beta(o) thalassemia) by the state's NBS programs. In the 11-1/2 years after universal NBS was initiated in Connecticut in 1990, there were no reported deaths among infants diagnosed at birth with Hb SS or sickle-beta(o) thalassemia. In the 18 years before any State NBS (1970-1988) there were 13 deaths attributed to sickle cell diseases. The limited State NBS program conducted between 1988 and July 2000 missed testing five affected children who subsequently died. These results document a marked reduction in mortality since the introduction of NBS for hemoglobinopathies and suggest that the Connecticut NBS program, coupled with comprehensive follow-up care, greatly reduced mortality.