Total Blindness Research Articles

Exploring the Health Behaviors of Young Adults Who Are Blind in South Korea

Introduction: Compared to sighted people, not only do people who are blind have multiple comorbidities and exhibit early mortality, but they also display high-risk health behaviors. To prevent problematic health behaviors affecting health-related quality of life and well-being, understanding the shared patterns of health behaviors among individuals with visual impairments, including blindness, is essential. Methods: This qualitative study explored the hidden constructs and patterns of health behaviors among employed young adults who are blind using a multiple case study analysis. Eight participants with self-reported total blindness were recruited via convenience sampling and recruitment postings. Results: The mean age was 27.43 ± 6.32 years with a range of 20–39 years. Seven males and one female completed the one-on-one telephone interviews. The study discovered eight patterns of health behaviors of young adults who are blind: (a) leading a sedentary lifestyle with physical inactivity, (b) eating irregularly and not cooking, (c) avoiding uncertainty and illness, (d) facing disability stigma in health care services, (e) seeking online information related to medical care, (f) sharing health-related information within the blind community, (g) receiving unreadable formats of health-related information, and (h) aiming for independence and autonomy in self-care. The following categorized health behavior constructs were extracted: perceived health problems, experiential attitude toward health care systems, health beliefs, perceived facilitators, and barriers. Discussion: The findings indicate that young adults who are blind prefer independent health-related activities. The identified problematic health behaviors were correlated to inaccessible healthcare resources. Implications for Practitioners: More accessible health resources enhancing the independence of young adults who are blind are needed to promote their health behaviors. For instance, more accessible fitness facilities and personalized exercise programs in workplaces and communities can motivate the physical activity of young adults who are blind.

GENDER DIFFERENCES IN SLEEP QUALITY, FATIGUE, AND DEPRESSIVE SYMPTOMS AMONG ADULTS OVER 50 WITH TOTAL BLINDNESS

Abstract Visual limitations and blindness have been associated with poor sleep quality, increased fatigue, and a higher risk of depressive symptoms in the aging population. In this study, we aimed to investigate sleep quality, fatigue, and depressive symptoms in US adults over the age of 50 with total blindness, and to examine potential gender differences. The study included 88 participants (59 females, mean age 61.34±8.04; 19 males, mean age 62.32±8.17) who completed an online survey providing data on socioeconomic status, comorbidities, sleep quality, fatigue, and depressive symptoms. Descriptive and bivariate analyses were performed using R software and its required packages. While females slept less than males (t = -2.98, p <.05), there was no significant difference in sleep quality (t = 1.82, p = .08) or depressive symptoms (t = 0.51, p = 0.62). Fatigue levels were significantly higher in females than males (t = 2.53, p <.05). Poorer sleep quality was associated with increased fatigue and severe depressive symptoms in both subgroups. The findings indicate potential gender effects, however, given the small sample size and limitations of the cross-sectional design, further longitudinal research is needed to fully understand gender differences in sleep quality, fatigue, and depressive symptoms among adults over 50 with visual limitations.

Study Analysis: Learning Pattern of Blind Children Using Aid Applications for Science Learning

Use of technology for learning for blind children. One of the main gaps is the availability and accessibility of this technology in the school environment. Not all schools have adequate infrastructure or financial support to implement technology effectively. This research uses a descriptive qualitative approach with triangulation techniques in data collection to provide an in-depth description of the learning process evaluation for blind students at SLB 1 Makassar. The data collection technique involved four blind students and four teachers who were also blind, selected through purposive sampling. The Context, Input, Process, Product (CIPP) approach developed by Stufflebeam was used as the framework. This research focuses specifically on evaluating the learning process. Unique dynamics in the blind class at SLB 1 Makassar, where teachers and students face blind disabilities. The presence of teachers who are also blind, especially those with total blindness, creates a learning environment full of empathy and mutual understanding. The Be My Eyes, Voice Dream Reader, and Blind Square applications contribute significantly to the inclusive education of blind children at SLB 1 Makassar. With the help of this application, it is possible to increase the independence of blind children in learning, especially science learning.

OP127 The Cost Effectiveness Of Anti-Vascular Endothelial Growth Factor Treatments For Age-Related Macular Degeneration In The Italian Healthcare Setting

IntroductionAge-related macular degeneration (AMD) is a common condition that affects the middle part of a patient’s vision. Typically, it first appears in people in their 50s and 60s. While it does not cause total blindness, it can make everyday activities, such as reading and recognizing faces, more difficult. This analysis aimed to define the resource absorption and cost-effectiveness profiles of the anti-vascular endothelial growth factor therapies currently available in the Italian healthcare context.MethodsA questionnaire was prepared to gather information on specific drivers involved in the provision pathway. The economic analysis was conducted according to activity-based costing methods. A cost-effectiveness analysis was carried out to provide information on the sustainability profile of the treatments available in the Italian setting. Results were reported in terms of the incremental cost-effectiveness ratio (ICER).Deterministic and probabilistic sensitivity analyses were carried out to test the robustness of the results.ResultsThe average absorption of resources per patient along the whole clinical pathway for aflibercept, bevacizumab, ranibizumab, and brolucizumab was EUR6,858, EUR1,420, EUR7,930, and EUR5,667, respectively. Brolucizumab was characterized by an unacceptable cost-effectiveness profile (ICER EUR43,454) versus bevacizumab, considering a willingness-to-pay threshold of EUR40,000 per quality-adjusted life-year (QALY). Compared with ranibizumab, brolucizumab was associated with lower costs (EUR22,368 versus EUR29,333) and higher QALYs (12.8 versus 12.6). Brolucizumab had a higher level of QALYs (12.8 vs 12.7) and lower resources absorbed than aflibercept, with a saving of EUR4,222. Therefore, brolucizumab was a dominant alternative to ranibizumab and aflibercept.ConclusionsThe analysis underlined how brolucizumab is a cost-saving strategy, compared with aflibercept and ranibizumab, and is likely to be cost-effective relative to bevacizumab in the Italian healthcare context.

Incidence of Total Blindness After Central Retinal Artery Occlusion With Ocular Neovascularization

Purpose: To determine the time-based incidence of total blindness after central retinal artery occlusion (CRAO) with secondary ocular neovascularization (ONV). Methods: In this retrospective cohort study, electronic records were queried using ICD-9 and ICD-10 codes to identify patients with secondary ONV post-CRAO. Patients with possible alternative ONV etiologies, previous panretinal photocoagulation (PRP), and/or previous antivascular endothelial growth factor (anti-VEGF) therapy were excluded. Clinical data included demographics, medical comorbidities, ONV manifestations, medical/surgical management, and best-corrected visual acuity (BCVA). Kaplan-Meier analysis was performed with total blindness (defined as a BCVA of no light perception) as the outcome of interest. Results: Of 345 eyes with CRAO, 34 met the inclusion criteria with a mean (±SD) follow-up of 22.0 ± 26.2 months. ONV management included PRP (70.6%), glaucoma drainage implant surgery or transscleral cyclophotocoagulation (32.4%), and intravitreal anti-VEGF therapy (mean 2.8 ± 5.6 injections per patient). The cumulative incidence of total blindness was 49.4% (95% confidence interval, 27.2%-71.6%) at 24 months, with 53.3% of cases occurring within 4 months of ONV onset. Conclusions: Post-CRAO ONV is associated with a high risk for progression from severe vision loss to total blindness. Neovascular glaucoma can present up to 4 months after CRAO, challenging the paradigm of “30-day-glaucoma.” Routine gonioscopy should extend through this period, while glaucoma surgery can delay further vision loss. These findings can be used to counsel patients on the importance of follow-up adherence.

Development application Smartness Help for the disabled blind with text and image detection

Blindness is a condition in which a person’s sense of sight does not function either partially (low vision) or as a whole (total blindness). Physical limitations make it difficult for them to access information and knowledge in the form of books or other printed media. This study was aimed at developing application smartness help for the disabled blind with text and image. The research method (RD) uses the waterfall model. The study was conducted at SLB-A YPPLB Payakumbuh with the results of the assessment of material experts 93.3%, and media experts 86.7% who stated that the Smartness Help application was “very feasible” to use and be tested on blind people. The results of trials on blind people using the Smartness Help application yielded 87% results, all of which were categorized as very feasible.

Optic Disc and Vessel Segmentation in Retinal Images using Correlation Texture

Globally, glaucoma has been recognized as the secondmost common reason for blindness. This affects the anatomy of the eyes, including blood vessels (BVs) and optic disc (OD). State-of-the-art literature has revealed that this disease is the root cause of degeneration in the OD, with some effects on the morphology of the BVs in the retina. These can result in total blindness if left untreated. Previous studies have shown that to effectively diagnose a disease, it is necessary to automatically detect the OD and the BVs with high accuracy in the fundus image. Segmentation of OD and BVs has, however, been challenging, due to the complex and poor segmentation performances. Such performances arise from the intricacies of vascular network width variation, illumination of images, and the structure of retinal images. Examples are retinal image boundaries on ODs and retinal lesions, due to disease. Hence the need for an investigation of the appropriate image feature(s) that will facilitate improvements to OD and BV segmentation performances. Texture is an important indicator used in image analysis for object segmentation. This work proposed the use of image-correlation texture information computational approaches for the segmentation of BVs, using variant window sizes; and OD using grayscale and green channel in the retinal images. This study revealed that the segmentation of BVs using variant window sizes (15x15) and (17x17) achieved high accuracy values of 95.11 per cent and 94.93 per cent; with accuracy values of 94.21 per cent and 93.98 per cent revealed in the DRIVE and STARE databases, respectively. Usually, sensitivity values of 74.84 per cent and 75.94 per cent, with average sensitivity values of 74.58 percent and 78.48 per cent, are achieved BV segmentation on the window sizes (15x15) and (17x17), indicated in DRIVE and STARE databases, respectively. Also, an average specificity value of 97.08 per cent and 96.77 per cent with average specificity values of 95.77 per cent and 95.18 per cent are achieved for BV segmentation on the window sizes (15x15) and (17x17), on DRIVE and STARE databases, respectively. Further, the segmentation of OD using grayscale achieved a slightly greater accuracy rate (98.59%) compared to the accuracy rate (98.36%) realized on green channel. This study also showed that the proposed approaches for BV and OD segmentation in this research achieved better results compared with several existing methods in the literature.

Retinitis Pigmentosa: Pathogenesis, Diagnostic Findings, and Treatment.

Retinitis Pigmentosa (RP) is an inherited retinal dystrophy (IRD) that causes progressive visual loss. Patients suffering from RP have a substantial influence on their everyday activities, social contacts, and jobs, lowering their quality of life. Frequent referral delays, as well as the lack of a standard therapy for the majority of patients, contribute to the significant unmet demand for RP. Any retinal injury has the potential to result in total blindness and visual impairment. Despite the fact that there is no cure for RP, people can manage it using rehabilitation programs and low-vision gadgets. The purpose of this research is to characterize the expanding treatment landscape for RP, as well as the justification for advanced therapy medicinal products (ATMPs). Vitamin A supplementscan help prevent the sluggish visual loss caused by a prevalent kind of RP. The presence of visual purple in the rods and the underlying vascular choroid causes the retina to look purplish red. The major portion of the retina damaged is the rod photoreceptor electric cell; the development of diverse diseases is progressive. Because of the retina's accessibility, immunological privilege, and compartmentalization, hereditary retinal diseases are amenable to cell and gene therapy. Therapeutic techniques that attempt to rescue photoreceptors (gene therapies) require the existence of non-functional target cells, but other therapies (cell therapies) do not require the presence of live photoreceptors. To provide successful therapy choices for RP patients at all disease phases, the development pipeline must be continually diversified and advanced, as well as ongoing efforts to encourage early patient identification and quick diagnosis. Future research will focus on avoiding vision loss in genetic eye illnesses and assisting patients in regaining their eyesight. Retinal implants, cell therapies, supplementary medications, and gene therapies may become common treatments for reducing vision loss in the future.

Technology for SMS-based assistive device for the visually impaired

The term "tunanetra" is used to refer to someone who experiences total blindness or visual impairment. Such visual limitations result in visually impaired individuals facing difficulties in accessing information quickly and performing daily activities like walking, driving, and more. Walking is one of the crucial activities for visually impaired individuals because it is one way to explore the world and engage in daily activities. Based on this issue, an assistive device for the visually impaired was designed using embedded system technology. In 2022, Serly Juliana Taneo, Jonshon Tarigan, Frederika Rambu Ngana, and Andreas Ch. Louk developed a mobility aid device for individuals with visual impairments using ultrasonic sensors for distance detection and Arduino as the microcontroller. However, the device primarily focused on mobility, and there is a need to add new features, such as emergency information using SMS technology that can send messages with the press of a button. The research results indicate that the ultrasonic sensor successfully triggers vibrations within a range of 1-100 cm, and the button can send emergency notifications via SMS when pressed. Therefore, it can be concluded that all connected components can function as intended. By combining SMS technology and ultrasonic sensors, this assistive device is expected to enhance the safety and independence of individuals with visual impairments as they navigate their surroundings.

Development of the Mobile Vision Enhancement System (MOVES) for Sight-Assist Mechanism

Vision-related diseases can have various effects on the human eye, ranging from minor sight distractions to the most severe cases of total blindness. There are multiple medical treatments available for the patient, as well as alternative methods, including wearable tools, to assist the patient in their daily routine activities. The most commonly used tool is the guide stick, which requires the user to hold it, thus limiting its flexibility. The technology-aided system also depends on the power supply, which also adds to the limitation. Inspired by the solar-based system, this project applies the portable sight-assist system, which is easy to use and comes with wearable design ideas. The proposed Mobile Vision Enhancement System (MOVES) is a solar-powered system that assists the user in detecting obstacles in their path. It is designed to fit in the hat worn by the user. The MOVES is designed using the Arduino Nano Microcontroller Board with a compatible poly-crystalline solar panel for solar-powered systems, an ultrasonic sensor for obstacle detection, and a buzzer for the alert system. The main objectives of the headwear design are that the system operates by using a solar panel, which is practical to place at the top, and the user does not have to hold it by hand, making it a hands-free system. The MOVES system has been tested in controlled environments with various obstacle placements. This is important, as the system must be able to detect any obstacle in the user’s pathway to avoid collisions and endanger the user. Based on the test, the MOVES had proven to be useful in assisting the user in detecting obstacles and helping the user in avoiding any obstacle in their path, with a mean relative error of less than 5%. Thus, MOVES is proposed as an alternative sight-assist system to be used by a visually impaired person.

Management of Retinitis Pigmentosa Via Wharton's Jelly-Derived Mesenchymal Stem Cells or Combination With Magnovision: 3-Year Prospective Results.

To investigate whether the natural progression rate of retinitis pigmentosa (RP) can be decreased with subtenon Wharton's jelly-derived mesenchymal stem cell (WJ-MSC) application alone or combination with Magnovision. The study included prospective analysis of 130 eyes of 80 retinitis pigmentosa patients with a 36-month follow-up duration. Patients constitute 4 groups with similar demographic characteristics. The subtenon WJ-MSC-only group consisted of 34 eyes of 32 RP patients as Group 1; the Magnovision-only group consisted of 32 eyes of 16 RP patients as Group 2; the combined management group consisted of 32 eyes of 16 RP patients who received combined WJ-MSC and Magnovision as Group 3; the natural course (control) group consisted of 32 eyes of 16 RP patients who did not receive any treatment were classified as Group 4. Fundus autofluorescence surface area (FAF-field), horizontal and vertical ellipsoid zone width (EZW), fundus perimetry deviation index (FPDI), full-field electroretinography magnitude (ERG-m), and best corrected visual acuity (BCVA) changes were compared within and between groups after 36 months follow up period. FAF-field delta changes were detected 0.39 mm2 in Group 1, 1.50 mm2 in Group 2, 0.07 mm2 in Group 3 and 12.04 mm2 in Group 4 (Δp 4 > 2 > 1 > 3). Horizontal EZW, Vertical EZW, BCVA, and FPDI delta changes were detected Δp 4 > 1,2 > 3. ERG-m delta changes were detected Δp 3 > 1,2,4. Retinitis pigmentosa characterized by progressive loss of photoreceptors eventually leading to total blindness. The combination of WJ-MSC and Magnovision can significantly slow the progression of the disease in comparison to natural progression rate for 3 years in appropriate cases. Trial Registration: ClinicalTrials.gov, NCT05800301.

Retina disease prediction using modified convolutional neural network based on Inception‐ResNet model with support vector machine classifier

AbstractArtificial intelligence and deep learning have aided ocular disease through experiments including automatic illness recognition from images of the iris, fundus, or retina. Automated diagnosis systems (ADSs) provide services for the benefit of humanity and are essential in the early detection of harmful diseases. In fact, early detection is essential to avoid total blindness. In real life, several diagnostic tests such as visual ocular tonometry, retinal exam, and acuity test are performed, but they are conclusively time demanding and stressful for the patient. To consume time and detect the retinal disease earlier, an efficient prediction method is designed. In this proposed model, the first process is data collection that consists of a retinal disease dataset for testing and training. The second process is pre‐processing, which executes image resizing and noise filter for feature extraction. The third step is feature extraction, which extracts the image's form, size, color, and texture for classification with CNN based on Inception‐ResNet V2. The classification process is done by using the SVM with the extracted features. The prediction of diseases is classified such as normal, cataract, glaucoma, and retinal disease. The suggested model's performance is assessed using performance indicators such as accuracy, error, sensitivity, precision, and so forth. The suggested model's accuracy, error, sensitivity, and precision are 0.96, 0.962, 0.964, and 0.04, respectively, higher than existing techniques such as VGG16, Mobilenet V1, ResNet, and AlexNet. Thus, the proposed model instantly predicts retinal disease.

Awareness, prevalence and risk burden of cataract among adults in IDO/OSI local government area, a rural community of Ekiti state, southwest Nigeria

Background: Cataract is characterized by lens opacity, making images look blurred and hazy. It causes increased light sensitivity, decreased vision at night, and seeing double images, leading to total blindness. The WHO also estimates that cataract blindness will reach 40 million by 2025 due to ageing population and longer life expectancy. Developing countries, including Sub-Saharan Africa have the highest number of people who are blind due to cataract. This study aims to determine the awareness, prevalence and risk burden of cataract among adults in Ido/Osi LGA, a rural community of Ekiti State. Methods: This is a descriptive cross-sectional study. The estimated sample size is 361 and a multi stage sampling technique was used. Data collection was through ophthalmic examinations and questionnaires which were analyzed using SPSS version 25.0. Results: The mean age of respondents was 54.94±11.17. Most respondents, 287 (79.5%), had a good awareness of cataracts. The prevalence of cataract in this study is 3.9%. Cataract significant Visual Acuity was found in 49 (13.5%) of the respondents. Age (<0.001), visual impairment (<0.001), hypertension (<0.001) and diabetes mellitus (0.003) were the factors associated with having cataracts. Conclusions: Intersectorial collaboration, health education through the mass media, evidenced based policies and research will help reduce the prevalence of cataract.

Clinical impact and misdiagnosis of functional ophthalmological symptoms: a case report

BackgroundThere is a high prevalence of somatoform disorders and medically unexplained symptoms. When it comes to deciding whether a patient is able to work, it is essential to differentiate a somatoform disorder from a factitious disorder. The case presented demonstrates the impact on disability benefits and the subsequent psychosocial repercussions of misdiagnosing between a factitious disorder and a somatoform disorder.Case presentationA 42-year-old Caucasian woman worked as a 100% fiduciary accountant until the age of 32 when she was placed on medical leave due to persistent trigeminal neuralgia. Afterward, she developed total blindness, not explained by a physiological process, accompanied by distress in a crucial emotional context. We evaluated the patient for a revision of a disability income after a diagnosis of factitious disorder with severe consequences such as disability income suspension and family conflict. Our psychiatric examination concluded the diagnoses of pain disorders related to psychological factors and a dissociative neurological symptom disorder with visual disturbance.ConclusionsBlindness not explained by a physiological process may accompany trauma and psychological distress. Differentiating this pathology from factitious disorder or simulation is essential from an insurance medicine point of view, but also for its treatment.

Serum Lipid Profile among Primary Open Angle Glaucoma Patients in a Rural Tertiary Care Hospital

BACKGROUND
 This study was conducted to evaluate the serum lipid profile in different grades of POAG patients and describe the demographic profile of POAG patients.
 METHODS
 This was a hospital based observational study comprising of 80 eyes of 40 POAG patients who visited OPD in the Department of Ophthalmology, Adichunchanagiri Institute of Medical Sciences, B.G. Nagara, Mandya District, over a period of 18 months from March 2021 to August 2022 after obtaining clearance from the institutional ethics committee and written informed consent from the study participants.
 RESULTS
 Of the 40 study participants, males constituted 62.5% (n=25) and females 32.5% (n=13) in the age group of 70 to 80 years 30% of patients had normal vision; the rest had visual impairments ranging from mild to total blindness. High cholesterol levels were present in 27.5% (n=11), high triglyceride in 42.5% (n=17), low HDL levels were present in 40% (n=16), High LDL levels were observed among 30% (n=12) of participants and high VLDL in 57.5% (n=23). The differences in the distribution of different grades of POAG with respect to different levels of total cholesterol and LDL were not significant, with p-values of 0.202 and 0.123 respectively. However, it was statistically significant for low HDL, high triglycerides and high VLDL with p value of 0.004, 0.05 and 0.017 respectively.
 CONCLUSIONS
 In conclusion, this observational study discovered that there is a significant relationship between dyslipidaemia to POAG. Low levels of HDL, high triglycerides, and high VLDL have a significant relationship (p<0.05) to the occurrence of POAG. This lends credence to the idea that abnormal lipid levels increase the likelihood of developing glaucoma.

National sex- and age-specific burden of blindness and vision impairment by cause in Mexico in 2019: a secondary analysis of the Global Burden of Disease Study 2019

Reliable national estimations for blindness and vision impairment are fundamental to assessing their burden and developing public health policies. However, no comprehensive analysis is available for Mexico. Therefore, in this observational study we describe the national burden of blindness and vision loss by cause and severity during2019. Using public data from the Global Burden of Disease (GBD) study 2019, we present national prevalence and years lived with disability (YLDs) counts and crude and age-standardized rates (per 100,000 people) of total, severity- and cause-specific blindness and vision impairment with 95% uncertainty intervals (UIs) by sex and age group. In Mexico, the burden of blindness and vision impairment was estimated at 11.01 million (95% UI, 9.25-13.11) prevalent cases and 384.96 thousand (259.57-544.24) YLDs during 2019. Uncorrected presbyopia caused the highest burden (6.06 million cases, 4.36-8.08), whereas severe vision loss and blindness affected 619.40 thousand (539.40-717.73) and 513.84 thousand (450.59-570.98) people, respectively. Near vision loss and refraction disorders caused 78.7% of the cases, whereas neonatal disorders and age-related macular degeneration were among the least frequent. Refraction disorders were the main cause of moderate and severe vision loss (61.44 and 35.43%), and cataracts were the second most frequent cause of blindness (26.73%). Females suffered an overall higher burden of blindness and vision impairment (54.99% and 52.85% of the total cases and YLDs), and people >50 years of age suffered the highest burden, with people between 70 and 74 years being the most affected. Vision loss represents a public health problem in Mexico, with women and older people being the most affected. Although the causes of vision loss contribute differentially to the severity of visual impairment, most of the impairment is avoidable. Consequently, a concerted effort at different levels is needed to alleviate this burden. This study received no funding.

Spontaneous Neutrophil Extracellular Traps Release Are Inflammatory Markers Associated with Hyperglycemia and Renal Failure on Diabetic Retinopathy.

Diabetic retinopathy (DR) is the major microvascular complication of diabetes and causes vitreous traction and intraretinal hemorrhages leading to retinal detachment and total blindness. The evolution of diabetes is related to exacerbating inflammation caused by hyperglycemia and activation of inflammatory cells. Neutrophils are cells able to release structures of extracellular DNA and proteolytic enzymes called extracellular traps (NETs), which are associated with the persistence of inflammation in chronic pathologies. The purpose of the study was to determine the usefulness of neutrophil traps as indicators of DR progression in patients with type 2 diabetes (T2DM). We performed a case-control study of seventy-four cases classified into five groups (non-proliferative DR, mild, moderate, severe, and proliferative) and fifteen healthy controls. We found correlations between NETs and a diagnostic time of T2DM (r = 0.42; p < 0.0001), fasting glucose (r = 0.29; p < 0.01), glycated hemoglobin (HbA1c) (r = 0.31; p < 0.01), estimated glomerular filtration rate (eGFR) (r = -0.29; p < 0.01), and plasma osmolarity (r = 0.25; p < 0.01). These results suggest that due to NETs being associated with clinical indicators, such as HbA1c and eGFR, and that NETs are also associated with DR, clinical indicators might be explained in part through an NET-mediated inflammation process.

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

BackgroundThe loss of vision leads to behavioral and motor adaptations that do not necessarily translate to good functioning with regards to daily tasks. AimTo 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. MethodsWe 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). ResultsSignificant 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) ConclusionThis 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.

Molecular genetics of primary open-angle glaucoma.

Glaucoma is a series of linked optic diseases resulting in progressive vision loss and total blindness due to the acquired loss of retinal ganglion cells. This harm to the optic nerve results in visual impairment and, ultimately, total blindness if left untreated. Primary open-angle glaucoma (POAG) is the most frequent variety within the large family of glaucoma. It is a multifaceted and heterogeneous condition with several environmental and genetic variables aiding in its etiology. By 2040, there will be 111.8 million glaucoma patients globally, with Asia and Africa accounting for the vast majority. The goal of this review is to elaborate on the role of genes (nuclear and mitochondrial) as well as their variants in the pathogenesis of POAG. PubMed and Google Scholar databases were searched online for papers until September 2022. Prevalence and inheritance patterns vary significantly across different ethnic and geographic populations. Numerous causative genetic loci may exist; however, only a few have been recognized and characterized. Further investigation into the genetic etiology of POAG is expected to uncover novel and intriguing causal genes, allowing for a more precise pathogenesis pattern of the disease.

Children's total blindness as a risk factor for early parent-child relationships: preliminary findings from an Italian sample.

Vision provides crucial information for parent-child attunement that scaffolds social development from the first months of life. Congenital blindness might affect both parental wellbeing and children's behavior during parent-child interaction. In this study, we compared families of young children with total versus partial blindness to understand the link between residual vision, parenting stress and perceived social support, and children's behavior during parent-child interaction. Participants were 42 white parents (21 fathers and 21 mothers) and their congenitally blind children (14 females, mean age = 14.81 months, SD = 10.46) with no co-occurring disability, recruited at the Robert Hollman Foundation rehabilitation centers in Italy. Parents' scores on the Parenting Stress Index and Multidimensional Scale of Perceived Social Support questionnaires, as well as children's behaviors signaling joint engagement during video-recorded episodes of parent-child interaction, were compared between the Total Blindness (TB, n = 12 children with no light perception or light perception in the dark but no quantifiable visual acuity) and Partial Blindness (PB, n = 9 children with a residual visual acuity below 3/60) groups. We found that parents of TB children had higher parenting stress and lower perceived social support scores than parents of PB children. In fathers, total stress and stress linked to perceiving the child as difficult negatively correlated with perceived support from friends. There was no difference in the time TB and PB children spent displaying joint engagement behaviors during parent-child interaction. However, TB children directed their gaze and face less often toward their parents than PB children. We observed a trend of association between this behavior and maternal stress. These preliminary results suggest that the complete absence of vision from birth has adverse effects on stress linked to parenting and parental perceived social support. These findings support the importance of early family-centered interventions that extend to the parents' communities and facilitate the parent-child dyad's communication through non-visual behaviors. Replication is warranted in larger and more diverse samples.