UNASSIGNED: To report the clinical, tomographic, histopathological and genetic findings of a patient with brittle cornea syndrome and a novel mutation in the ZNF469 gene likely implicated in the development of this disorder.
UNASSIGNED: A 64-year-old man presented with a two-year history of worsening vision in both eyes. The patient and his son were examined by imaging and genetic analysis.
UNASSIGNED: The patient exhibited persistent ocular irritation, decreased vision, corneal epithelial defects and corneal stromal opacity. Confocal microscopy revealed that the anterior corneal stroma had a large amount of highly reflective and striated tissue. However, his son had no symptoms. Genetic analysis identified a heterozygous c.1781C > T:p.P594L variation in the ZNF469 gene.
UNASSIGNED: We reported a novel mutation in the ZNF469 gene (c.1781C > T:p.P594L) in a patient with brittle cornea syndrome from China, which enriched the spectrum of ZNF469 variants implicated in brittle cornea syndrome.

OBJECTIVE: This study aims to evaluate the relationship between somatic sensations, impaired vision, and cognitive performance using the factor structure convergence insufficiency symptoms survey questionnaire in university undergraduate and post-graduate students.
METHODS: Centre-based and questionnaire-based.
METHODS: Subjects were recruited from a university. First, an e-Survey was conducted with the help of Google form and distributed through WhatsApp and Gmail to carry out the survey. The age group of participants was ranged from 18 to 30 years. A total number of 561 responses was received during the data collection period. As per the exclusion criteria, 230 responses were excluded from the study. Out of 331 students, 154 were male while 177 were female. Out of 331 participants, 213 were undergraduates and 118 were postgraduate\'s students.
RESULTS: A total of 331 participants took part in the study. The minimum age was 18 years and the maximum age was 30 years. The mean age of the participants was 23.40 ± 2.42. Among all students, 23.81% had somatic sensations followed by 10.49% had impaired vision, and 16.31% had a poor cognitive function. The correlation between somatic sensations-impaired visions was a moderate positive correlation and a strong positive correlation between somatic sensations-cognitive performance and impaired vision-cognitive performance.
CONCLUSIONS: A significant relationship between somatic sensations, impaired vision, and cognitive performance was found in the study. The students had more somatic sensations than impaired vision and cognitive performance.

Intracranial aneurysms and their hemorrhagic and thromboembolic complications represent a serious nosological unit that significantly endangers those afflicted. They are mostly asymptomatic until rupture occurs. In two case reports, we present our observations of young patients with impaired vision and headaches, in whom we found the presence of intracranial aneurysms.
Presentation of two case reports of patients who came to our department with impaired vision and headaches. The patients underwent a complete eye examination at our center, including a visual field examination. Based on the results of the examination, they were referred for  an imaging examination of the brain, which revealed the presence of intracranial aneurysms. The patients were subsequently sent to the interventional neuroradiology center, where they underwent a noninvasive endovascular neuroembolization procedure with flow diverter implantation. We continued to monitor the patients after the procedure and document the examination results up to 1 year after the procedure.
Thanks to the fast detection, diagnosis, and management of both patients, we prevented the occurrence of aneurysm rupture, thus a life-threatening complication. After endovascular procedures with flow diverter implantation, we observed a significant improvement in visual acuity as well as perimetric findings in both patients. When intracranial aneurysms are found within a week of the onset of eye symptoms and treated within three months, defects in the visual fields improved in our two patients within 6-12 months, and in one of the two patients the defects almost completely disappeared.

The loss of vision leads to behavioral and motor adaptations that do not necessarily translate to good functioning with regards to daily tasks.
To investigate differences in functional mobility in adults with total blindness, and analyze differences in spatiotemporal gait variables with and without the use of a cane, and wearing shoes or barefoot.
We used an inertial measurement unit to assess the spatiotemporal parameters of the gait and functional mobility in seven subjects with total blindness and four sighted participants during the timed up and go test (TUG) test performed under conditions: barefoot/shod; and with/without a cane (blind subjects).
Significant differences between groups were found in total TUG test time and in the sub-phases when the blind subjects executed the TUG barefoot and without a cane (p < .01). Other differences were found in trunk movement during sit-to-stand, and stand-to-sit where blind subjects when without cane and barefoot, they had a greater range of motion than sighted subjects (p < .01). Also, BMI has a moderate to strong influence in the execution of the TUG in blind subjects (p < .05) CONCLUSION: This study showed that, when using a gait-assistance device and wearing shoes, blind subjects have similar functional mobility and gait as sighted subjects, suggesting that an external haptic reference can compensate for the lack of vision. Knowledge of these differences can provide a better understanding of the adaptive behavior in this population, thereby assisting in minimizing the occurrence of trauma and falls.

Introduction: The COVID-19 pandemic has affected access to health and social services globally, leading to delays in accessing appropriate care. However, while there is a growing base of research into service access for the general population, there remains scarce information on the implications of the pandemic on disabled people. This article describes issues with health and disability support access for people with impaired vision in Aotearoa New Zealand (Aotearoa). Methods: Applying an Interpretive Description methodology, 62 interviews were conducted with disabled people; 10 of these individuals identified as having impaired vision. Findings were analyzed thematically for the entire group of 62, representing varied impairment groups, and then for the 10 who had impaired vision. Results: Five key themes arose from the interviews, including transportation difficulties, mental distress, loss of community, loss of physical contact and signals, and general loss of support. Participants identified that this loss of support occurred at multiple levels, meaning that the disability and healthcare system as a whole was ill-equipped to manage their needs. Participants reported a lag-time in accessing care, meaning that the effects of the pandemic are still felt due to a lack of available support and resources. Discussion: This article remains one of a few studies to look at the implications of the pandemic on access to health and disability services for those with impaired vision. It highlights that despite Aotearoa\'s good track record in managing the pandemic, groups were forgotten and marginalized by the collective response to managing COVID-19. Implications for Practitioners: Blindness professionals must be aware of the possible disadvantages and impacts of pandemics and other disasters on people with impaired vision and their access to health and disability services. Policymakers must include disabled people at the decision-making table so that the diverse needs of these populations are managed.

Blind people face difficulties with independent mobility, impacting employment prospects, social inclusion, and quality of life. Given the advancements in computer vision, with more efficient and effective automated information extraction from visual scenes, it is important to determine what information is worth conveying to blind travelers, especially since people have a limited capacity to receive and process sensory information. We aimed to investigate which objects in a street scene are useful to describe and how those objects should be described. Thirteen cane-using participants, five of whom were early blind, took part in two urban walking experiments. In the first experiment, participants were asked to voice their information needs in the form of questions to the experimenter. In the second experiment, participants were asked to score scene descriptions and navigation instructions, provided by the experimenter, in terms of their usefulness. The descriptions included a variety of objects with various annotations per object. Additionally, we asked participants to rank order the objects and the different descriptions per object in terms of priority and explain why the provided information is or is not useful to them. The results reveal differences between early and late blind participants. Late blind participants requested information more frequently and prioritized information about objects\' locations. Our results illustrate how different factors, such as the level of detail, relative position, and what type of information is provided when describing an object, affected the usefulness of scene descriptions. Participants explained how they (indirectly) used information, but they were frequently unable to explain their ratings. The results distinguish between various types of travel information, underscore the importance of featuring these types at multiple levels of abstraction, and highlight gaps in current understanding of travel information needs. Elucidating the information needs of blind travelers is critical for the development of more useful assistive technologies.

Usher syndrome (USH) is the most common form of monogenic deaf-blindness. Loss of vision is untreatable and there are no suitable animal models for testing therapeutic strategies of the ocular constituent of USH, so far. By introducing a human mutation into the harmonin-encoding USH1C gene in pigs, we generated the first translational animal model for USH type 1 with characteristic hearing defect, vestibular dysfunction, and visual impairment. Changes in photoreceptor architecture, quantitative motion analysis, and electroretinography were characteristics of the reduced retinal virtue in USH1C pigs. Fibroblasts from USH1C pigs or USH1C patients showed significantly elongated primary cilia, confirming USH as a true and general ciliopathy. Primary cells also proved their capacity for assessing the therapeutic potential of CRISPR/Cas-mediated gene repair or gene therapy in vitro. AAV-based delivery of harmonin into the eye of USH1C pigs indicated therapeutic efficacy in vivo.

OBJECTIVE: To evaluate the impact of glaucoma on health-related quality of life (HRQoL) and mental health in the ageing population of Finland.
METHODS: Altogether 7380 and 5774 Finnish individuals aged 30 years and older with known eye disease status were studied in 2000 and 2011, respectively, in two population-based surveys, including an 11-year follow-up of 4683 participants. Data on HRQoL (EQ-5D-3L, 15D), depression (BDI), psychological distress (GHQ-12) and eye disease diagnoses were obtained from self-reported assessments. Information on glaucoma was complemented with the medication, diagnosis and eye surgery data obtained from the Finnish Health Registries. Distance visual acuity was assessed using the Snellen eye chart test. In logistic regression analyses, data were corrected for age, gender and the most common comorbidities.
RESULTS: Glaucoma patients with verified diagnosis (n = 192 in 2000, n = 202 in 2011) and individuals with self-suspected glaucoma (n = 100 in 2000, n = 41 in 2011) showed a significant decrease in their HRQoL. Glaucoma was also associated with worsened overall mental health based on BDI and GHQ-12 results. Visual impairment associated with glaucoma is the major determinant of the reduced HRQoL and mental health. Neither glaucoma medication nor glaucoma surgery affected these parameters. The impact of glaucoma on HRQoL and mental health diminished between 2000 and 2011 in a cross-sectional setting. The newly diagnosed glaucoma during the 11-year follow-up had a minimal effect on them.
CONCLUSIONS: Glaucoma patients show reduced HRQoL and mental health, which is associated with vision loss regardless of the awareness or treatment of the disease. However, this effect seems to be diminishing over time, and the newly diagnosed glaucoma did not show a significant effect on either HRQoL or mental health.

To maintain the balance, the postural system needs to integrate the three main sensorial systems: visual, vestibular, and somatosensory to keep postural control within the limits of stabilization. Damage of one of these systems, in this case, the vision, will have a great disturbance on the postural control influencing the behavior of the balance, resulting in falls. The aim of this study protocol for a randomized, controlled clinical trial is to analyze the effects of transcranial direct current stimulation (tDCS) combined with proprioceptive exercises on postural control in individuals with congenital and acquired blindness. In this randomized, controlled, double-blind, clinical trial, male, and female individuals with blindness between 18 and 55 years of age will participate in this study divided into three phases: 1-Determine differences in postural control and gait between individuals with congenital and acquired blindness with and without the use of a guide stick when wearing shoes and when barefoot; 2-A pilot study to analyze the effects a bilateral cerebellar anodal tDCS on postural on postural control and gait; and 3-A treatment protocol will be conducted in which the participants will be allocated to four groups: G1-active tDCS + dynamic proprioceptive exercises; G2-sham tDCS + dynamic proprioceptive exercises; G3-active tDCS + static proprioceptive exercises; and G4-sham tDCS + static proprioceptive exercises. Evaluations will involve a camera system for three-dimensional gait analysis, a force plate, and electromyography. Dynamic stability will be determined using the Timed Up and Go test and static stability will be analyzed with the aid of the force plate. The viability of this study will allow the determination of differences in postural control between individuals with congenital and acquired blindness, the analysis of the effect of tDCS on postural control, and the establishment of a rehabilitation protocol.

Face recognition is a natural skill that a child performs from the first days of life; unfortunately, there are people with visual or neurological problems that prevent the individual from performing the process visually. This work describes a system that integrates Artificial Intelligence which learns the face of the people with whom the user interacts daily. During the study we propose a new hybrid model of Alpha-Beta Associative memories (Amαβ) with Correlation Matrix (CM) and K-Nearest Neighbors (KNN), where the Amαβ-CMKNN was trained with characteristic biometric vectors generated from images of faces from people who present different facial expressions such as happiness, surprise, anger and sadness. To test the performance of the hybrid model, two experiments that differ in the selection of parameters that characterize the face are conducted. The performance of the proposed model was tested in the databases CK+, CAS-PEAL-R1 and Face-MECS (own), which test the Amαβ-CMKNN with faces of subjects of both sexes, different races, facial expressions, poses and environmental conditions. The hybrid model was able to remember 100% of all the faces learned during their training, while in the test in which faces are presented that have variations with respect to those learned the results range from 95.05% in controlled environments and 86.48% in real environments using the proposed integrated system.