Neuropsychiatric Symptoms in Rhombencephalosynapsis: A Clinical Report.

Rhombencephalosynapsis (RES) is a hindbrain malformation characterized by a missing cerebellar vermis with apposition or fusion of the cerebellar hemispheres. The present clinical case report provides a comprehensive, longitudinal overview of cognitive and affective manifestations in a 22-year-old patient with RES. The patient shows clinical signs of emotional reactivity and dysregulation, impulsivity, and impairments in executive functioning since early childhood.

Pediatric abusive head trauma: visual outcomes, evoked potentials, diffusion tensor imaging, and relationships to retinal hemorrhages.

Purpose: Function and anatomy of the visual system were evaluated in children with abusive head trauma (AHT). The relationships between retinal hemorrhages at presentation were examined with outcome measures.

Methods: Retrospective review of data in children with AHT for 1) visual acuity at last follow-up, 2) visual evoked potentials (VEP) after recovery, 3) diffusion metrics of white matter tracts and grey matter within the occipital lobe on diffusion tensor imaging (DTI), and 4) patterns of retinal hemorrhages at presentation.

OPTICAL COHERENCE TOMOGRAPHY AND VISUAL OUTCOMES IN PEDIATRIC ABUSIVE HEAD TRAUMA.

Purpose: Compare follow-up optical coherence tomography with visual function in children with abusive head trauma (shaken baby syndrome).

Methods: Retrospective follow-up studies of three children who were victims of abusive head trauma within the first year of life.

Results: Optical coherence tomography showed disrupted retinal layering, thick detached internal limiting membrane, focal posterior vitreous separation, and multilayered tractional retinoschisis.

Cerebral Visual Impairment Characterized by Abnormal Visual Orienting Behavior With Preserved Visual Cortical Activation.

Purpose: Children with cerebral visual impairment (CVI) often have abnormal visual orienting behaviors due to impaired or damaged visual cortex. Alternatively, visual-cortical function is intact but visual information is not transformed downstream into an appropriate oculomotor output (visuomotor dysfunction). We examined visual, anatomic, and oculomotor assessments to distinguish visuomotor dysfunction from CVI associated with severely reduced visual-cortical response.

A reduced visual pathway response in infantile nystagmus syndrome.

Purpose: To investigate visual cortical responses in children with infantile nystagmus syndrome (INS) and the potential contribution of foveation periods.

Methods: The medical records of children with INS who had visual evoked potential (VEP) recordings to reversing checkerboards and onset of horizontal gratings were reviewed retrospectively. VEP recordings underwent objective selective averaging for extraction of brief periods having consistent amplitude and timing with the stimulus presentation.

Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features.

We describe two novel missense variants in segregating in a family with variable severity of ataxia/oculomotor dysfunction, neurobehavioral impairments, and epilepsy. The most severe outcome occurred in a compound heterozygous proband, which could represent variable expression of the paternal allele or biallelic modulation of calcium channel function. Acetazolamide and lamotrigine were effective for seizure control.

Matching Misaligned Spectralis OCTs to a Reference Scan in Pediatric Glaucoma with Poor Fixation and Nystagmus.

Purpose: Poor fixation or nystagmus in children causes misalignment errors when measuring circumpapillary retinal nerve fiber layer (cpRNFL) thickness by simultaneous scanning laser ophthalmoscope imaging/optical coherence tomography (SLO/OCT). We investigated a method to assess cpRNFL from misaligned SLO/OCT scans.

Methods: Heidelberg Spectralis SLO/OCT scans from a single clinical examination were retrospectively analyzed when automated eye tracking was unreliable.

Optical coherence tomography findings in Cohen syndrome.

Cohen syndrome is a rare disease that causes myopia and retinal degeneration in the setting of developmental delay and characteristic craniofacial features. We report optical coherence tomography (OCT) abnormalities in 4 patients with Cohen syndrome, 2 of whom have longitudinal follow-up. All subjects had schisis-like changes, with cystoid spaces in the inner retina as well as diffuse outer retinal atrophy sparing the subfoveal region.

Global Retinoblastoma Presentation and Analysis by National Income Level.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale.

Retinal and visual function in infants with non-accidental trauma and retinal hemorrhages.

Purpose: To investigate retinal function and visual outcomes in infants with retinal hemorrhages due to non-accidental trauma (NAT).

Methods: This is a retrospective review of full-field or multifocal electroretinogram (ERG) recordings, visual acuity in log minimum angle of resolution (logMAR), clinical status, and neuroimaging. Multifocal ERGs from the central 40° were compared to corresponding fundus imaging.

Visual Function, Brain Imaging, and Physiological Factors in Children With Asymmetric Nystagmus due to Chiasmal Gliomas.

Purpose: Asymmetric nystagmus can be an important presenting sign of optic pathway gliomas in young children. We investigated the causes of asymmetric nystagmus in children with chiasmal or suprasellar optic pathway gliomas compared with children with similar optic pathway gliomas and stable gaze.

Methods: Longitudinal magnetic resonance imaging before and after treatment, age-corrected visual acuity, ocular examinations, video-oculography, visual evoked potentials, and retinal nerve fiber layer thickness were retrospectively reviewed.

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.

Clinical Outcomes in Children With Orbital Cellulitis and Radiographic Globe Tenting.

Purpose: Axial displacement of the globe with tenting centered on the optic nerve-globe junction is a predictor of visual loss in adults. The purpose of this study was to determine the visual outcomes of children with orbital cellulitis and globe tenting.

Methods: The records of 46 consecutive children with orbital cellulitis at a single tertiary children's hospital were reviewed retrospectively.

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.

Congenital or infantile hydrocephalus is caused by genetic and non-genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non-syndromic congenital hydrocephalus in three reported families.

Does eye velocity due to infantile nystagmus deprive visual acuity development?

Purpose: To use eye movement recordings of young children to determine whether eye velocity from infantile nystagmus (IN) deprives the developing visual system of normal visual acuity.

Methods: The video-oculography recordings and visual acuity measurements (including Teller cards) of 15 children ≤6.0 years of age with IN without visual sensory disease (idiopathic IN) were reviewed retrospectively.

Optical Coherence Tomography in Optic Nerve Hypoplasia: Correlation With Optic Disc Diameter, Nerve Fiber Layer Thickness, and Visual Function.

Background: The correlation between optic disc diameters (DDs) with average retinal nerve fiber layer thickness (RNFLT) and visual function in children with optic nerve hypoplasia (ONH) having nystagmus is unknown.

Methods: Data were obtained from a retrospective review of 28 children (mean age: 9.4 years; ±5.

Enhanced retinal responses in Huntington's disease patients.

Background: Huntington's disease (HD) is a fatal progressive neurodegenerative disease characterized by chorea, cognitive impairment and psychiatric symptoms. Retinal examination of HD patients as well as in HD animal models have shown evidence of retinal dysfunction. However, a detailed retinal study employing clinically available measurement tools has not been reported to date in HD.

The relationship of nystagmus waveform on the VEP response in infantile nystagmus syndrome: a small case series.

Purpose: The relationship between eye movements and the visual evoked potential (VEP) response was examined in two subjects with infantile nystagmus syndrome (INS). Changes in VEP amplitude were compared between periods of foveation versus periods of high-frequency nystagmus. An analysis is proposed that improves extraction of the checkerboard reversal VEP signal from subjects with INS.

VEP analysis methods in children with optic nerve hypoplasia: relationship to visual acuity and optic disc diameter.

Purpose: Assessing vision in young children with optic nerve hypoplasia (ONH) is challenging due to multi-directional infantile nystagmus, the range of optic nerve loss, and cognitive delay. This study examined visual evoked potential (VEP) responses and averaging techniques in children with ONH. The assumption is that EEG epochs with inconsistent temporal phase would be associated with nystagmus, signal reduction due to axon loss, and visual inattention.

Infantile Nystagmus and Abnormalities of Conjugate Eye Movements in Down Syndrome.

Purpose: Subjects with Down syndrome (DS) have an anatomical defect within the cerebellum that may impact downstream oculomotor areas. This study characterized gaze holding and gains for smooth pursuit, saccades, and optokinetic nystagmus (OKN) in DS children with infantile nystagmus (IN).

Methods: Clinical data of 18 DS children with IN were reviewed retrospectively.

Visual sensory and ocular motor function in children with polymicrogyria: relationship to magnetic resonance imaging.

Purpose: To assess visual and ocular motor function in children with polymicrogyria (PMG).

Methods: The medical records of 15 children (0.4-4 years of age) with PMG documented by magnetic resonance imaging (MRI) and with age-corrected visual acuity measured by Teller acuity cards were reviewed retrospectively.

Visual acuity and astigmatism in periocular infantile hemangiomas treated with oral beta-blocker versus intralesional corticosteroid injection.

Background: Periocular infantile hemangiomas (PIH) can induce anisometropic astigmatism, a risk factor for amblyopia. Oral beta-blocker therapy has largely supplanted systemic or intralesional corticosteroids. The purpose of this study was to evaluate the effect and time course of these treatment modalities on visual acuity and induced astigmatism.

Crouzon Syndrome: Relationship of Eye Movements to Pattern Strabismus.

Purpose: To characterize conjugate eye movements in Crouzon syndrome (CS) patients with and without strabismus.

Methods: Smooth pursuit, saccades, horizontal optokinetic nystagmus (OKN), and horizontal vestibulo-ocular reflex (VOR) were recorded using binocular video-oculography (VOG) in 10 children with CS (5 orthotropic, 5 strabismic) and 12 age-matched controls. Hess-Lancaster plots were generated from Orbit 1.