Recognition of facial expressions of emotions in tactile drawings by blind children, children with low vision and sighted children.

In the context of blindness, studies on the recognition of facial expressions of emotions by touch are essential to define the compensatory touch abilities and to create adapted tools on emotions. This study is the first to examine the effect of visual experience in the recognition of tactile drawings of facial expressions of emotions by children with different visual experiences. To this end, we compared the recognition rates of tactile drawings of emotions between blind children, children with low vision and sighted children aged 6-12 years. Results revealed no effect of visual experience on recognition rates. However, an effect of emotions and an interaction effect between emotions and visual experience were found. Indeed, while all children had a low average recognition rate, the drawings of fear, anger and disgust were particularly poorly recognized. Moreover, sighted children were significantly better at recognizing the drawings of surprise and sadness than the blind children who only showed high recognition rates for joy. The results of this study support the importance of developing emotion tools that can be understood by children with different visual experiences.

Helping Blind People Grasp: Evaluating a Tactile Bracelet for Remotely Guiding Grasping Movements.

The problem of supporting visually impaired and blind people in meaningful interactions with objects is often neglected. To address this issue, we adapted a tactile belt for enhanced spatial navigation into a bracelet worn on the wrist that allows visually impaired people to grasp target objects. Participants' performance in locating and grasping target items when guided using the bracelet, which provides direction commands via vibrotactile signals, was compared to their performance when receiving auditory instructions. While participants were faster with the auditory commands, they also performed well with the bracelet, encouraging future development of this system and similar systems.

Blind cavefish evolved higher foraging responses to chemo- and mechanostimuli.

In nature, animals must navigate to forage according to their sensory inputs. Different species use different sensory modalities to locate food efficiently. For teleosts, food emits visual, mechanical, chemical, and/or possibly weak-electrical signals, which can be detected by optic, auditory/lateral line, and olfactory/taste buds sensory systems. However, how fish respond to and use different sensory inputs when locating food, as well as the evolution of these sensory modalities, remain unclear. We examined the Mexican tetra, Astyanax mexicanus, which is composed of two different morphs: a sighted riverine (surface fish) and a blind cave morph (cavefish). Compared with surface fish, cavefish have enhanced non-visual sensory systems, including the mechanosensory lateral line system, chemical sensors comprising the olfactory system and taste buds, and the auditory system to help navigate toward food sources. We tested how visual, chemical, and mechanical stimuli evoke food-seeking behavior. In contrast to our expectations, both surface fish and cavefish did not follow a gradient of chemical stimulus (food extract) but used it as a cue for the ambient existence of food. Surface fish followed visual cues (red plastic beads and food pellets), but, in the dark, were likely to rely on mechanosensors-the lateral line and/or tactile sensor-as cavefish did. Our results indicate cavefish used a similar sensory modality to surface fish in the dark, while affinity levels to stimuli were higher in cavefish. In addition, cavefish evolved an extended circling strategy to forage, which may yield a higher chance to capture food by swimming-by the food multiple times instead of once through zigzag motion. In summary, we propose that ancestors of cavefish, similar to the modern surface fish, evolved extended food-seeking behaviors, including circling motion, to adapt to the dark.

Noninvasive imaging-guided ultrasonic neurostimulation with arbitrary 2D patterns and its application for high-quality vision restoration.

Retinal degeneration, a leading cause of irreversible low vision and blindness globally, can be partially addressed by retina prostheses which stimulate remaining neurons in the retina. However, existing electrode-based treatments are invasive, posing substantial risks to patients and healthcare providers. Here, we introduce a completely noninvasive ultrasonic retina prosthesis, featuring a customized ultrasound two-dimensional array which allows for simultaneous imaging and stimulation. With synchronous three-dimensional imaging guidance and auto-alignment technology, ultrasonic retina prosthesis can generate programmed ultrasound waves to dynamically and precisely form arbitrary wave patterns on the retina. Neuron responses in the brain's visual center mirrored these patterns, evidencing successful artificial vision creation, which was further corroborated in behavior experiments. Quantitative analysis of the spatial-temporal resolution and field of view demonstrated advanced performance of ultrasonic retina prosthesis and elucidated the biophysical mechanism of retinal stimulation. As a noninvasive blindness prosthesis, ultrasonic retina prosthesis could lead to a more effective, widely acceptable treatment for blind patients. Its real-time imaging-guided stimulation strategy with a single ultrasound array, could also benefit ultrasound neurostimulation in other diseases.

The Impact of Spectral and Temporal Degradation on Vocoded Speech Recognition in Early-Blind Individuals.

This study compared the impact of spectral and temporal degradation on vocoded speech recognition between early-blind and sighted subjects. The participants included 25 early-blind subjects (30.32 ± 4.88 years; male:female, 14:11) and 25 age- and sex-matched sighted subjects. Tests included monosyllable recognition in noise at various signal-to-noise ratios (-18 to -4 dB), matrix sentence-in-noise recognition, and vocoded speech recognition with different numbers of channels (4, 8, 16, and 32) and temporal envelope cutoff frequencies (50 vs 500 Hz). Cortical-evoked potentials (N2 and P3b) were measured in response to spectrally and temporally degraded stimuli. The early-blind subjects displayed superior monosyllable and sentence recognition than sighted subjects (all p < 0.01). In the vocoded speech recognition test, a three-way repeated-measure analysis of variance (two groups × four channels × two cutoff frequencies) revealed significant main effects of group, channel, and cutoff frequency (all p < 0.001). Early-blind subjects showed increased sensitivity to spectral degradation for speech recognition, evident in the significant interaction between group and channel (p = 0.007). N2 responses in early-blind subjects exhibited shorter latency and greater amplitude in the 8-channel (p = 0.022 and 0.034, respectively) and shorter latency in the 16-channel (p = 0.049) compared with sighted subjects. In conclusion, early-blind subjects demonstrated speech recognition advantages over sighted subjects, even in the presence of spectral and temporal degradation. Spectral degradation had a greater impact on speech recognition in early-blind subjects, while the effect of temporal degradation was similar in both groups.

Adults' spatial scaling of tactile maps: Insights from studying sighted, early and late blind individuals.

The current study investigated spatial scaling of tactile maps among blind adults and blindfolded sighted controls. We were specifically interested in identifying spatial scaling strategies as well as effects of different scaling directions (up versus down) on participants' performance. To this aim, we asked late blind participants (with visual memory, Experiment 1) and early blind participants (without visual memory, Experiment 2) as well as sighted blindfolded controls to encode a map including a target and to place a response disc at the same spot on an empty, constant-sized referent space. Maps had five different sizes resulting in five scaling factors (1:3, 1:2, 1:1, 2:1, 3:1), allowing to investigate different scaling directions (up and down) in a single, comprehensive design. Accuracy and speed of learning about the target location as well as responding served as dependent variables. We hypothesized that participants who can use visual mental representations (i.e., late blind and blindfolded sighted participants) may adopt mental transformation scaling strategies. However, our results did not support this hypothesis. At the same time, we predicted the usage of relative distance scaling strategies in early blind participants, which was supported by our findings. Moreover, our results suggested that tactile maps can be scaled as accurately and even faster by blind participants than by sighted participants. Furthermore, irrespective of the visual status, participants of each visual status group gravitated their responses towards the center of the space. Overall, it seems that a lack of visual imagery does not impair early blind adults' spatial scaling ability but causes them to use a different strategy than sighted and late blind individuals.

Altered grid-like coding in early blind people.

Cognitive maps in the hippocampal-entorhinal system are central for the representation of both spatial and non-spatial relationships. Although this system, especially in humans, heavily relies on vision, the role of visual experience in shaping the development of cognitive maps remains largely unknown. Here, we test sighted and early blind individuals in both imagined navigation in fMRI and real-world navigation. During imagined navigation, the Human Navigation Network, constituted by frontal, medial temporal, and parietal cortices, is reliably activated in both groups, showing resilience to visual deprivation. However, neural geometry analyses highlight crucial differences between groups. A 60° rotational symmetry, characteristic of a hexagonal grid-like coding, emerges in the entorhinal cortex of sighted but not blind people, who instead show a 90° (4-fold) symmetry, indicative of a square grid. Moreover, higher parietal cortex activity during navigation in blind people correlates with the magnitude of 4-fold symmetry. In sum, early blindness can alter the geometry of entorhinal cognitive maps, possibly as a consequence of higher reliance on parietal egocentric coding during navigation.

Supplemental vibrissal extensions as an alternative to improve the tactile sensitivity of blind dogs - a preliminary approach investigation.

OBJECTIVE: This preliminary study suggests a way to artificially extend vibrissae of blind dogs to assist ambulation and avoiding facial contact with obstacles. PROCEDURES: Fourteen irreversibly blind dogs had 5-6 mystacial vibrissae on each side of the face supplementally extended by attaching carefully chosen adult pig hairs to them and were subjected to a maze test before and after the procedure. In three of these dogs the test was repeated one more time after all the extensions had fallen off. Collision counts and course times with and without extensions were analyzed and compared. A p-value > 0.05 was considered significant. RESULTS: Median number of collisions was significantly higher post-extensions (5 IQR 2.25) and after extensions had fallen off (4 IQR 7.50) compared to pre-extensions (1 IQR 1), p = 0.021. Median times were significantly higher pre-extension (25.6 IQR 8.98) and after the extensions had fallen off, compared to the post-extension performance (22.8 IQR 8.55), p = 0.04. CONCLUSION: Vibrissae play an important role in the tactile perception of blind dogs, and our preliminary results suggest that extending this sensory organ possibly improves obstacle location and their quality of life.

Sudden Vision Loss.

A 37-year-old woman was referred for evaluation of a retinal detachment in her left eye. Posterior examination results demonstrated a retinal detachment in the posterior pole with shifting fluid and no identifiable retinal break, and there was a thickened choroid with a hyporeflective band on ultrasound biomicroscopy. What would you do next?

The role of vision in the acquisition of words: Vocabulary development in blind toddlers.

What is vision's role in driving early word production? To answer this, we assessed parent-report vocabulary questionnaires administered to congenitally blind children (N = 40, Mean age = 24 months [R: 7-57 months]) and compared the size and contents of their productive vocabulary to those of a large normative sample of sighted children (N = 6574). We found that on average, blind children showed a roughly half-year vocabulary delay relative to sighted children, amid considerable variability. However, the content of blind and sighted children's vocabulary was statistically indistinguishable in word length, part of speech, semantic category, concreteness, interactiveness, and perceptual modality. At a finer-grained level, we also found that words' perceptual properties intersect with children's perceptual abilities. Our findings suggest that while an absence of visual input may initially make vocabulary development more difficult, the content of the early productive vocabulary is largely resilient to differences in perceptual access. RESEARCH HIGHLIGHTS: Infants and toddlers born blind (with no other diagnoses) show a 7.5 month productive vocabulary delay on average, with wide variability. Across the studied age range (7-57 months), vocabulary delays widened with age. Blind and sighted children's early vocabularies contain similar distributions of word lengths, parts of speech, semantic categories, and perceptual modalities. Blind children (but not sighted children) were more likely to say visual words which could also be experienced through other senses.

Visuomotor coordination and cognitive capacity in blindsight.

Classical literature on blindsight described that some patients with lesions to the primary visual cortex could respond to visual stimuli without subjective awareness. Recent studies addressed more complex arguments on the conscious state of blindsight subjects such as existence of partial awareness, namely "feeling of something happening" in the lesion-affected visual field, termed 'type II blindsight', and high-level performance in complex cognitive tasks in blindsight model monkeys. Endeavors to clarify the visual pathways for blindsight revealed the parallel thalamic routes mediating the visual inputs from the superior colliculus to extrastriate and frontoparietal cortices, which may underlie the flexible visuomotor association and cognitive control in the blindsight subjects. Furthermore, involvement of post-lesion plasticity is suggested for these neural systems to operate.

Contingent negative variation to tactile stimuli - differences in anticipatory and preparatory processes between participants with and without blindness.

People who are blind demonstrate remarkable abilities within the spared senses and compensatory enhancement of cognitive skills, underscored by substantial plastic reorganization in relevant neural areas. However, little is known about whether people with blindness form top-down models of the world on short timescales more efficiently to guide goal-oriented behavior. This electroencephalography study investigates this hypothesis at the neurophysiological level, focusing on contingent negative variation (CNV) as a marker of anticipatory and preparatory processes prior to expected events. In sum, 20 participants with blindness and 27 sighted participants completed a classic CNV task and a memory CNV task, both containing tactile stimuli to exploit the expertise of the former group. Although the reaction times in the classic CNV task did not differ between groups, participants who are blind reached higher performance rates in the memory task. This superior performance co-occurred with a distinct neurophysiological profile, relative to controls: greater late CNV amplitudes over central areas, suggesting enhanced stimulus expectancy and motor preparation prior to key events. Controls, in contrast, recruited more frontal sites, consistent with inefficient sensory-aligned control. We conclude that in more demanding cognitive contexts exploiting the spared senses, people with blindness efficiently generate task-relevant internal models to facilitate behavior.

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.

Norrie disease is caused by mutation of the NDP gene, presenting as congenital blindness followed by later onset of hearing loss. Protecting patients from hearing loss is critical for maintaining their quality of life. This study aimed to understand the onset of pathology in cochlear structure and function. By investigating patients and juvenile Ndp-mutant mice, we elucidated the sequence of onset of physiological changes (in auditory brainstem responses, distortion product otoacoustic emissions, endocochlear potential, blood-labyrinth barrier integrity) and determined the cellular, histological, and ultrastructural events leading to hearing loss. We found that cochlear vascular pathology occurs earlier than previously reported and precedes sensorineural hearing loss. The work defines a disease mechanism whereby early malformation of the cochlear microvasculature precedes loss of vessel integrity and decline of endocochlear potential, leading to hearing loss and hair cell death while sparing spiral ganglion cells. This provides essential information on events defining the optimal therapeutic window and indicates that early intervention is needed. In an era of advancing gene therapy and small-molecule technologies, this study establishes Ndp-mutant mice as a platform to test such interventions and has important implications for understanding the progression of hearing loss in Norrie disease.

Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review.

PURPOSE: Osteogenesis imperfecta (OI) is a rare inherited heterogeneous connective tissue disorder characterized by bone fragility, low bone mineral density, skeletal deformity and blue sclera. The dominantly inherited forms of OI are predominantly caused by mutations in either the COL1A1 or COL1A2 gene. Collagen type I is one of the major structural proteins of the eyes and therefore is the eye theoretically prone to alterations in OI. The aim of this systematic review was to provide an overview of the known ocular problems reported in OI. METHODS: A literature search (in PubMed, Embase and Scopus), which included articles from inception to August 2020, was performed in accordance with the PRISMA guidelines. RESULTS: The results of this current review show that almost every component of the eye could be affected in OI. Decreased thickness of the cornea and sclera is an important factor causing eye problems in patients with OI such as blue sclera. Findings that stand out are ruptures, lacerations and other eye problems that occur after minor trauma, as well as complications from standard surgical procedures. DISCUSSION: Alterations in collagen type I affect multiple structural components of the eye. It is recommended that OI patients wear protective glasses against accidental eye trauma. Furthermore, when surgery is required, it should be approached with caution. The prevalence of eye problems in different types of OI is still unknown. Additional research is required to obtain a better understanding of the ocular defects that may occur in OI patients and the underlying pathology.

X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.

PURPOSE: To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS). DESIGN: Retrospective cohort study. PARTICIPANTS: Three hundred forty patients with XLRS from 178 presumably unrelated families. METHODS: This multicenter, retrospective cohort study reviewed medical records of patients with XLRS for medical history, symptoms, visual acuity (VA), ophthalmoscopy, full-field electroretinography, and retinal imaging (fundus photography, spectral-domain [SD] OCT, fundus autofluorescence). MAIN OUTCOME MEASURES: Age at onset, age at diagnosis, severity of visual impairment, annual visual decline, and electroretinography and imaging findings. RESULTS: Three hundred forty patients were included with a mean follow-up time of 13.2 years (range, 0.1-50.1 years). The median ages to reach mild visual impairment and low vision were 12 and 25 years, respectively. Severe visual impairment and blindness were observed predominantly in patients older than 40 years, with a predicted prevalence of 35% and 25%, respectively, at 60 years of age. The VA increased slightly during the first 2 decades of life and subsequently transitioned into an average annual decline of 0.44% (P < 0.001). No significant difference was found in decline of VA between variants that were predicted to be severe and mild (P = 0.239). The integrity of the ellipsoid zone (EZ) as well as the photoreceptor outer segment (PROS) length in the fovea on SD OCT correlated significantly with VA (Spearman's ρ = -0.759 [P < 0.001] and -0.592 [P = 0.012], respectively). Fifty-three different RS1 variants were found. The most common variants were the founder variant c.214G→A (p.(Glu72Lys)) (101 patients [38.7%]) and a deletion of exon 3 (38 patients [14.6%]). CONCLUSIONS: Large variabilities in phenotype and natural course of XLRS were seen in this study. In most patients, XLRS showed a slow deterioration starting in the second decade of life, suggesting an optimal window of opportunity for treatment within the first 3 decades of life. The integrity of EZ as well as the PROS length on SD OCT may be important in choosing optimal candidates for treatment and as potential structural end points in future therapeutic studies. No clear genotype-phenotype correlation was found.

Functional Availability of ON-Bipolar Cells in the Degenerated Retina: Timing and Longevity of an Optogenetic Gene Therapy.

Degenerative diseases of the retina are responsible for the death of photoreceptors and subsequent loss of vision in patients. Nevertheless, the inner retinal layers remain intact over an extended period of time, enabling the restoration of light sensitivity in blind retinas via the expression of optogenetic tools in the remaining retinal cells. The chimeric Opto-mGluR6 protein represents such a tool. With exclusive ON-bipolar cell expression, it combines the light-sensitive domains of melanopsin and the intracellular domains of the metabotropic glutamate receptor 6 (mGluR6), which naturally mediates light responses in these cells. Albeit vision restoration in blind mice by Opto-mGluR6 delivery was previously shown, much is left to be explored in regard to the effects of the timing of the treatment in the degenerated retina. We performed a functional evaluation of Opto-mGluR6-treated murine blind retinas using multi-electrode arrays (MEAs) and observed long-term functional preservation in the treated retinas, as well as successful therapeutical intervention in later stages of degeneration. Moreover, the treatment decreased the inherent retinal hyperactivity of the degenerated retinas to levels undistinguishable from healthy controls. Finally, we observed for the first time micro electroretinograms (mERGs) in optogenetically treated animals, corroborating the origin of Opto-mGluR6 signalling at the level of mGluR6 of ON-bipolar cells.

Neurally-constrained modeling of human gaze strategies in a change blindness task.

Despite possessing the capacity for selective attention, we often fail to notice the obvious. We investigated participants' (n = 39) failures to detect salient changes in a change blindness experiment. Surprisingly, change detection success varied by over two-fold across participants. These variations could not be readily explained by differences in scan paths or fixated visual features. Yet, two simple gaze metrics-mean duration of fixations and the variance of saccade amplitudes-systematically predicted change detection success. We explored the mechanistic underpinnings of these results with a neurally-constrained model based on the Bayesian framework of sequential probability ratio testing, with a posterior odds-ratio rule for shifting gaze. The model's gaze strategies and success rates closely mimicked human data. Moreover, the model outperformed a state-of-the-art deep neural network (DeepGaze II) with predicting human gaze patterns in this change blindness task. Our mechanistic model reveals putative rational observer search strategies for change detection during change blindness, with critical real-world implications.

Backward spatial perception can be augmented through a novel visual-to-auditory sensory substitution algorithm.

Can humans extend and augment their natural perceptions during adulthood? Here, we address this fascinating question by investigating the extent to which it is possible to successfully augment visual spatial perception to include the backward spatial field (a region where humans are naturally blind) via other sensory modalities (i.e., audition). We thus developed a sensory-substitution algorithm, the "Topo-Speech" which conveys identity of objects through language, and their exact locations via vocal-sound manipulations, namely two key features of visual spatial perception. Using two different groups of blindfolded sighted participants, we tested the efficacy of this algorithm to successfully convey location of objects in the forward or backward spatial fields following ~ 10 min of training. Results showed that blindfolded sighted adults successfully used the Topo-Speech to locate objects on a 3 × 3 grid either positioned in front of them (forward condition), or behind their back (backward condition). Crucially, performances in the two conditions were entirely comparable. This suggests that novel spatial sensory information conveyed via our existing sensory systems can be successfully encoded to extend/augment human perceptions. The implications of these results are discussed in relation to spatial perception, sensory augmentation and sensory rehabilitation.

Effect of vision impairment on match-related performance and technical variation in attacking moves in Paralympic judo.

In Paralympic judo for athletes with vision impairment (VI judo) all eligible athletes (i.e. B1, B2 and B3 classes) compete against each other in the same competition. Evidence suggests that athletes with more impairment may be disadvantaged, but that more sensitive measures of performance are necessary to understand the impact of impairment on performance. The aim of this study was to investigate the relationship between Para sport class and technical variation, time-motion variables, and performance in Paralympic judo. All 175 judo matches from the Rio 2016 Paralympic Games were analysed across 129 competitors (82 male and 47 female). The main results indicated that athletes who demonstrated less technical variation also experienced less competitive success, with the functionally blind athletes (class B1) demonstrating less technical variation than partially sighted (class B2 and B3) athletes (p < 0.05). There was no difference in the time-motion variables between sport classes (p > 0.05). We conclude that measures of technical variation are sensitive to differences in impairment and are suitable for studies that investigate the impairment-performance relationship in VI judo. Results further confirm that some athletes with impairment are disadvantaged under the current rules of VI judo.

The effect of congenital blindness on resting-state functional connectivity revisited.

Lower resting-state functional connectivity (RSFC) between 'visual' and non-'visual' neural circuits has been reported as a hallmark of congenital blindness. In sighted individuals, RSFC between visual and non-visual brain regions has been shown to increase during rest with eyes closed relative to rest with eyes open. To determine the role of visual experience on the modulation of RSFC by resting state condition-as well as to evaluate the effect of resting state condition on group differences in RSFC-, we compared RSFC between visual and somatosensory/auditory regions in congenitally blind individuals (n = 9) and sighted participants (n = 9) during eyes open and eyes closed conditions. In the sighted group, we replicated the increase of RSFC between visual and non-visual areas during rest with eyes closed relative to rest with eyes open. This was not the case in the congenitally blind group, resulting in a lower RSFC between 'visual' and non-'visual' circuits relative to sighted controls only in the eyes closed condition. These results indicate that visual experience is necessary for the modulation of RSFC by resting state condition and highlight the importance of considering whether sighted controls should be tested with eyes open or closed in studies of functional brain reorganization as a consequence of blindness.