The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.

PURPOSE: A recently described subtype of foveal hypoplasia with congenital nystagmus and optic-nerve-decussation defects was found to be associated with mutations in the SLC38A8 gene. The aim of this study is to advance the clinical and molecular knowledge of SLC38A8 gene mutations. METHODS: Five Israeli families with congenital foveal hypoplasia were studied, two of Karait Jewish origins and three of Indian Jewish origins. Subjects underwent a comprehensive ophthalmic examination including retinal photography and ocular coherence tomography. Molecular analysis including whole exome sequencing and screening of the SLC38A8 gene for specific disease-causing variants was performed. RESULTS: Eight affected individuals were identified, all had congenital nystagmus and all but one had hypoplastic foveal pits. Anterior segment dysgenesis was observed in only one patient, one had evidence of developmental delay and another displayed early age-related macular degeneration (AMD). Molecular analysis revealed a recently described homozygous mutation, c.95T > G; p.Ile32Ser, in two families of Jewish Indian descent, and the same mutation in two families of Karaite Jewish descent. In a patient with only one pathogenic mutation (c.95T > G; p.Ile32Ser), a possible partial clinical expression of the disorder was seen. One patient of Jewish Indian descent was found to be compound heterozygous for c.95T > G; p.Ile32Ser and a novel mutation c.490_491delCT; p.L164Vfs*41. CONCLUSIONS: In five unrelated families with congenital nystagmus and foveal hypoplasia, mutations in the SLC38A8 gene were identified. Possible partial expression in a heterozygous patient was observed and novel potential disease-related phenotypes were identified including early-onset AMD and developmental delay. A novel mutation was also identified and a similar mutation in both Indian and Karaite Jewish ethnicities could be suggestive for common ancestry.

Betamethasone versus dexamethasone for inpatient preschool wheezing-A case-control study.

BACKGROUND AND OBJECTIVES: Wheezing is one of the most common reasons for the presentation of children to primary care or the emergency ward, before 7 years of age. Current guidelines recommend a short course of oral corticosteroids (OCS) for those children with a wheezing attack severe enough to require hospitalization. However, the optimal choice of therapy is controversial. We aimed to compare the efficacy of betamethasone to that of dexamethasone in achieving clinical response in preschool children requiring hospitalization for an acute wheezing attack. METHODS: This was a retrospective study. Medical records of healthy children without significant comorbidities between 1 and 7 years of age (n = 234) admitted with a moderate-severity acute wheezing attack to two pediatric wards between 2014 and 2018 were included. All children were treated with either betamethasone or dexamethasone exclusively during the hospitalization. The primary outcome of interest was the length of hospital stay (LOS). RESULTS: The demographic parameters and the clinical severity of wheezing episodes were similar in the two study groups, as was the LOS. However, the dexamethasone cumulative dose used during hospitalization was significantly larger than the betamethasone cumulative dose (3.76 (1.88-5.64) vs. 1.86 (1.24-3.1) mg/kg of prednisone-equivalent dose, p < .001). CONCLUSION: In preschool children with acute wheezing requiring hospitalization, betamethasone achieved a similar clinical response when compared to dexamethasone, with a lower cumulative steroid dose. Further studies are needed to understand the additional benefits of betamethasone over other steroids or placebo.

Anterior-Segment Optical Coherence Tomography-Guided Measurement Of A Melting Ulcer For Follow-Up Of Corneoscleral Thinning Progression.

PURPOSE: To evaluate the feasibility of using anterior-segment optical coherence tomography (AS-OCT) for three-dimensional assessment of corneoscleral thinning progression in ulcers after pterygium removal. METHODS: A patient with corneoscleral melting after pterygium removal surgery and mitomycin C treatment was evaluated using AS-OCT imaging of the corneoscleral ulcer at five consecutive time points, up to 2 years. AS-OCT scans of 8.3×5.6 mm (15°×10°) containing 41 B-scans spaced 139 µm apart were performed monthly for 4 months and then at 2 years following pterygium removal. A single B-scan was comprised of 768 A-scans. Ten B-scans of the same position were averaged in a single AS-OCT image. The area of ulcer's section (AUS) was measured in seven fixed landmarks through a horizontally aligned plane in order to provide an estimation of the three-dimensional size of the lesion. RESULTS: The AUS in the two superior locations increased during the follow-up period to an average of 114% at 2 years compared to the initial visit. In the other five locations (three midline and two inferior), the AUS decreased and was on average 64% in the midline and 29% in the inferior locations at 24 months. CONCLUSION: AS-OCT provided a readily available assessment of the lesion's three-dimensional size during repeated follow-ups and identification of localized areas at higher risk for perforation. This method may potentially be useful for corneal surface pathologies requiring repeated follow-ups and may aid in decision-making regarding corneal thickness based on an accurate measurement.

Spatial grouping in human vision: temporal structure trumps temporal synchrony.

Temporal information promotes visual grouping of local image features into global spatial form. However, experiments demonstrating time-based grouping typically confound two potential sources of information: temporal synchrony (precise timing of changes) and temporal structure (pattern of changes over time). Here, we show that observers prefer temporal structure for determining perceptual organization. That is, human vision groups elements that change according to the same global pattern, even if the changes themselves are not synchronous. This finding prompts an important, testable prediction concerning the neural mechanisms of binding: patterns of neural spiking over time may be more important than absolute spike synchrony.

Mixed messengers, unified message: spatial grouping from temporal structure.

In dynamic visual environments, objects can differ from their backgrounds in terms of their associated temporal structure--the time course of changes in some stimulus property defining object and background. In a series of experiments, we investigated whether different "messengers" of temporal structure group into coherent spatial forms. Observers viewed arrays of Gabor patches in which different temporal structures designated figure and ground regions; extracting the figure required grouping across synchronized orientation, spatial frequency, phase, and/or contrast changes. Observers were able to extract spatial form from temporal structure even when information had to be combined across different messengers. Further, mixing messengers of temporal structure proved cost-free: task performance when grouping across messengers approximated performance when all information resided within a single messenger. Thus, the visual system can abstract temporal structure regardless of the messenger of the dynamic event; a coherent spatial structure emerges from this abstracted temporal structure.

Temporal variations in visual completion: a reflection of spatial limits?

The completion of partly occluded objects appears instantaneous and effortless, but empirically takes measurable time. The current study investigates how amount of occlusion affects the time course and mechanisms of visual completion. Experiment 1 used a primed-matching paradigm to determine completion times for objects occluded by various amounts. Experiments 2 and 3 used a dot-localization paradigm to probe completed contour representations for a qualitative shift above some spatial limit. The results demonstrate that time to completion rises with amount of occlusion. Nonetheless, the visual system can complete highly occluded objects, even when the occlusion renders visible contours nonrelatable. Furthermore, prolonged completion times for highly occluded objects do not result from a breakdown of low-level interpolation processes: The same contour completion mechanism operates on objects occluded by different spatial extents.

Contour interpolation revealed by a dot localization paradigm.

Contour interpolation mechanisms allow perception of bounded objects despite incomplete edge information. Here, we introduce a paradigm that maps interpolated contours as they unfold over time. Observers localize dots relative to perceived boundaries of illusory, partly occluded, or control stimuli. Variations in performance with dot position and processing time reveal the location and precision of emerging contour representations. Illusory and occluded contours yielded more proficient dot localization than control stimuli containing only spatial cues, suggesting performance based on low-level representations. Further, illusory contours exhibited a distinct developmental time course, emerging over the first 120 ms of processing. These experiments establish the effectiveness of the dot localization paradigm for examining interpolated edge representations, contour microgenesis, and the underlying processing mechanisms.

Hearing what the eyes see: auditory encoding of visual temporal sequences.

When the senses deliver conflicting information, vision dominates spatial processing, and audition dominates temporal processing. We asked whether this sensory specialization results in cross-modal encoding of unisensory input into the task-appropriate modality. Specifically, we investigated whether visually portrayed temporal structure receives automatic, obligatory encoding in the auditory domain. In three experiments, observers judged whether the changes in two successive visual sequences followed the same or different rhythms. We assessed temporal representations by measuring the extent to which both task-irrelevant auditory information and task-irrelevant visual information interfered with rhythm discrimination. Incongruent auditory information significantly disrupted task performance, particularly when presented during encoding; by contrast, varying the nature of the rhythm-depicting visual changes had minimal impact on performance. Evidently, the perceptual system automatically and obligatorily abstracts temporal structure from its visual form and represents this structure using an auditory code, resulting in the experience of "hearing visual rhythms."