Brittle cornea syndrome: A novel mutation.

Purpose: 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. Methods: 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. Results: 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. Conclusions: 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.

Is there a relationship between somatic sensations, impaired vision, and cognitive performance using the factor structure of the convergence insufficiency symptoms survey questionnaire?

AIMS: 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. SETTINGS AND DESIGN: Centre-based and questionnaire-based. SUBJECTS AND 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.

Improvement of Visual Field Defects after Neuroembolization Treatment of Intracranial Aneurysms. Case Reports.

PURPOSE: 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. OBSERVATIONS: 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. CONCLUSIONS AND SIGNIFICANCE: 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.

Assessment of functional mobility and gait during a timed up and go test in adults with total blindness.

BACKGROUND: The loss of vision leads to behavioral and motor adaptations that do not necessarily translate to good functioning with regards to daily tasks. AIM: 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. METHODS: 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). RESULTS: 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.

Beyond the Cane: Describing Urban Scenes to Blind People for Mobility Tasks.

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.

Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes.

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.

Access to Health and Disability Services for New Zealanders With Impaired Vision During the COVID-19 Pandemic 2020-2022.

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.

Improving health-related quality of life in glaucoma during 11 years and its association with vision loss and treatment of the disease.

PURPOSE: 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. CONCLUSION: 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.

The Effects of Transcranial Direct Current Stimulation (tDCS) Combined With Proprioceptive Training for Blind Individuals: The Study Protocol for a Randomized Controlled Clinical Trial.

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.

Health and disease among Somali primary school children in Hargeisa.

BACKGROUND AND OBJECTIVE: Limited data exist on health conditions of school children in Somaliland. School Health Intervention Pilot Program (SHIPP) was conducted through Edna Adan University Hospital to screen children and offer interventions. We present the results of the general health screening of the school children, and also describe the association between nutritional status and other variables. METHODS: In this cross-sectional study children from two public primary schools in Hargeisa were assessed for general health by nursing students. Nutritional status was assessed by BMI-for-age z-scores and visual acuity by Paediatric Snellen Chart. RESULTS: We screened 2,093 children aged 4-19 years; 58% were boys. Very low BMI-for-age (z-score < -3) was detected in 5%; 6% had visual acuity below 0.7; 26% had dental caries. Children reported low exposure to health services: 33% reported no prior vaccination; 46% reported they had never visited a health clinic or hospital. CONCLUSION: A significant number of children were malnourished, had reduced visual acuity or treatable infections which could impact their ability to learn. Public schools are a feasible entry point for public health action including screening, treatment, and referral in fragile countries.

System for Face Recognition under Different Facial Expressions Using a New Associative Hybrid Model Amαß-KNN for People with Visual Impairment or Prosopagnosia.

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 (Amαß) with Correlation Matrix (CM) and K-Nearest Neighbors (KNN), where the Amαß-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 Amαß-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.

Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child.

BACKGROUND: We describe the ophthalmologic, clinical, and genetic findings in a patient of Yemenite-Jewish origin diagnosed with Alstrom syndrome due to a novel splice-site mutation 10 years after a clinical misdiagnosis of Leber congenital amaurosis. METHODS: Ophthalmological evaluations included visual acuity, cycloplegic refraction, slit-lamp, and optical coherent tomography. Genetic analyses included whole exome sequencing followed by bioinformatics analysis and segregation analysis. An in vitro splicing assay was used to evaluate the effect of the identified mutation on splicing. Taqman assay was used to determine the need for population screening for the identified mutation. RESULTS: Ophthalmologic findings at age 6 were impaired vision, nystagmus, and hyperopia. At age 16 years, the patient presented with obesity, hypothyroidism, and elevated transaminase levels in addition to reduced vision, wandering nystagmus, disc pallor, and degenerative retinal changes. Targeted genetic analysis of ALMS1 revealed a homozygous transversion, c.11544 + 3A>T, suggesting a novel splicing mutation, with elimination of the donor splice site and insertion of 73 nucleotides at the end of exon 16. These changes were validated by Sanger sequencing and co-segregation on family members. CONCLUSIONS: Ophthalmologists should be alert to the differential diagnosis of inherited retinal degeneration in young patients who present with impaired vision, especially if systemic symptoms are mild and there is no known family history. In the present case, targeted genetic analysis of a child with a syndromic cone-rod dystrophy yielded a novel splicing mutation in ALMS1 causing Alstrom syndrome.

Legibility in Print Text for People with Impaired Vision.

Research on the level of legibility and readability of text are mainly based on subjects with normal eyesight. In Norway, about 180.000 of the population is diagnosed with a visual impairment. In our study, over 800 visually impaired subjects participated in an experiment, which is so far the largest study of legibility and readability ever conducted for this this group of observers. The observers were recruited through the Norwegian association for blind and visually impaired (Norges Blindeforbund) and the number of subjects reveals that the experiment included 4.6% of the population with visual impairments. In the experiment, the characteristics to be studied included different typefaces, serifs and sans serifs, font sizes, weighting and contrast. We can conclude that the uncontrolled home based experiment was successful regarding the volume of respondents, which resulted in significant findings. This paper gives an overview of the design choices according to experiment method and selection of legibility variables.

Visual Localizer: Outdoor Localization Based on ConvNet Descriptor and Global Optimization for Visually Impaired Pedestrians.

Localization systems play an important role in assisted navigation. Precise localization renders visually impaired people aware of ambient environments and prevents them from coming across potential hazards. The majority of visual localization algorithms, which are applied to autonomous vehicles, are not adaptable completely to the scenarios of assisted navigation. Those vehicle-based approaches are vulnerable to viewpoint, appearance and route changes (between database and query images) caused by wearable cameras of assistive devices. Facing these practical challenges, we propose Visual Localizer, which is composed of ConvNet descriptor and global optimization, to achieve robust visual localization for assisted navigation. The performance of five prevailing ConvNets are comprehensively compared, and GoogLeNet is found to feature the best performance on environmental invariance. By concatenating two compressed convolutional layers of GoogLeNet, we use only thousands of bytes to represent image efficiently. To further improve the robustness of image matching, we utilize the network flow model as a global optimization of image matching. The extensive experiments using images captured by visually impaired volunteers illustrate that the system performs well in the context of assisted navigation.

Food shopping, sensory determinants of food choice and meal preparation by visually impaired people. Obstacles and expectations in daily food experiences.

The number of visually impaired and blind people is rising worldwide due to ageing of the global population, but research regarding the impact of visual impairment on the ability of a person to choose food and to prepare meals is scarce. The aim of this study was threefold: to investigate factors determining the choices of food products in people with various levels of impaired vision; to identify obstacles they face while purchasing food, preparing meals and eating out; and to determine what would help them in the areas of food shopping and meal preparation. The data was collected from 250 blind and visually impaired subjects, recruited with the support of the National Association of the Blind. The study revealed that majority of the visually impaired make food purchases at a supermarket or local grocery and they tend to favour shopping for food via the Internet. Direct sale channels like farmers markets were rarely used by the visually impaired. The most frequently mentioned factors that facilitated their food shopping decisions were the assistance of salespersons, product labelling in Braille, scanners that enable the reading of labels and a permanent place for products on the shop shelves. Meal preparation, particularly peeling, slicing and frying, posed many challenges to the visually impaired. More than half of the respondents ate meals outside the home, mainly with family or friends. The helpfulness of the staff and a menu in Braille were crucial for them to have a positive dining out experience. The results of the study provide valuable insights into the food choices and eating experiences of visually impaired people, and also suggest some practical implications to improve their independence and quality of life.

Guía de Práctica Clínica en prevención, detección temprana, diagnóstico y tratamiento de ambliopía en menores de 18 años / Guía de Práctica Clínica en prevención, detección temprana,diagnóstico y tratamiento de ambliopía en menores de 18 años ​

Evaluar la efectividad de las estrategias existentes para la prevención de la ambliopía en pacientes menores de 18 años. o Evaluar la efectividad de las estrategias existentes para la detección temprana en pacientes menores de 18 años.

[Thickening or hypoplasia of the fovea]. / Verdickung oder Hypoplasie der Fovea.

A 64-year-old female patient complained of a bilateral reduction in vision. The foveal reflex was remarkable bilaterally and optical coherence tomography (OCT) demonstrated the absence of a foveal depression. After exclusion of possible diseases foveal hypoplasia was diagnosed. This rare alteration of the fovea should not be mistaken for foveal edema. A volume scan with a narrow grid is advisable to avoid a misinterpretation.

Papua New Guinea vision-specific quality of life questionnaire: a new patient-reported outcome instrument to assess the impact of impaired vision.

BACKGROUND: The aim of this study was to develop and validate a new vision-specific quality of life (VS QoL) instrument and to assess the impact of vision impairment and eye disease on the quality of life of adults in Papua New Guinea (PNG). DESIGN: This study was designed as community based cross-sectional. PARTICIPANTS: Six hundred fourteen adults aged 18 and above were included in this study. METHODS: Focus groups and interviews guided development of a 41-item instrument. Two valid subscales of the instrument were obtained using pilot data after an iterative item reduction process guided by Rasch-based parameters. The person measures (in logits) of 614 participants were used to assess quality of life using univariate and multivariate regression analysis. MAIN OUTCOME MEASURES: Rasch logits. RESULTS: Rasch analysis confirmed a 17-item instrument containing an 8-item activity limitation subscale and a 9-item well-being subscale. Both subscales were unidimensional and demonstrated good fit statistics, measurement precisions and absence of significant differential item functioning. A consistent deterioration in vision-specific quality of life was independently and significantly associated with levels of vision. Severity of vision impairment and ocular morbidity were independently associated with activity limitation and emotional well-being. Participants with refractive error had lower quality of life score than those with no ocular abnormality but higher score than those with cataract and other eye diseases. CONCLUSIONS: The 17-item PNG-VS QoL instrument is a valid and reliable instrument for the assessment of impact of impaired vision on quality of life in PNG. Vision-specific quality of life was significantly worse among participants who were older and less-educated, had lower income and have had ocular morbidities.

Charles bonnet syndrome, management with simple behavioral technique.

Charles Bonnet syndrome occurs in visually impaired but cognitively normal individuals. This report describes a condition of vivid visual hallucination (phantom images) in an 85-year-old conscious man, who had been blind by bilateral progressively worsening glaucoma. This common, but rarely reported, condition was managed by behavioral approach of repeated blinking, intermittent eyes closure, and reassurance. While emotional, mood and cognitive disorders need to be ruled out, the condition, though frightening to the afflicted, is benign and remediable with simple, inexpensive approach. Health workers managing people with terminal blindness should always ask for the presence of hallucinations from their patients to forestall a preventable distress resulting from wrong perception without visual stimulus.

A Case of Tuberculous Optochiasmatic Arachnoiditis / 대한내과학회지

Tuberculous optochiasmatic arachnoiditis (OCA) is a rare complication of tuberculous meningitis. We describe a 47-year-old female with tuberculous OCA confused with ethambutol-associated optic neuropathy. She was on anti-tuberculous treatment (i.e., isoniazid, rifampin, ethambutol, and pyrazinamide) for two months due to tuberculous meningitis. Visual impairment occurred during treatment, and ethambutol was changed to levofloxacin because of concern for ethambutol-associated optic neuropathy. Her visual impairment did not improve three months after anti-tuberculous treatment that excluded ethambutol, and she was referred to our hospital. Brain MRI showed enhancement of the optic chiasm and bilateral optic tract, and fundoscopy revealed bilateral optic nerve atrophy, suggesting tuberculous OCA. Her visual acuity was partially improved after anti-tuberculous treatment. Tuberculous OCA should be considered in addition to ethambutol-associated optic neuropathy for a patient with tuberculous meningitis who presents with visual impairment.