Search Results (28)

Bardet–Biedl syndrome (BBS) is a rare multisystem ciliopathy characterized by early-onset retinal degeneration and other vision-threatening ophthalmologic manifestations. This review synthesizes current knowledge on the ocular phenotype of BBS as well as emerging therapeutic approaches aimed at preserving visual function. Retinal degeneration, particularly early macular involvement and rod–cone dystrophy, remains the hallmark of BBS-related vision loss. Additional ocular manifestations, such as refractive errors, nystagmus, optic nerve abnormalities, and cataracts further contribute to visual morbidity. Experimental therapies—including gene-based interventions and pharmacologic strategies such as nonsense suppression and antioxidant approaches—have shown promise in preclinical models but require further validation. Early ophthalmologic care, including routine visual assessments, refractive correction, and low-vision rehabilitation, remains the standard of management. However, there are currently no effective therapies to halt or reverse retinal degeneration, which underscores the importance of emerging molecular and genetic interventions. Timely recognition and comprehensive ophthalmologic evaluation are essential to mitigate visual decline in BBS. Future efforts should focus on translating these approaches into clinical practice, enhancing early diagnosis, and promoting multidisciplinary collaboration to improve long-term outcomes for patients with BBS. Full article

Background: Nearly 5 million people in Peru live with visual impairments, many of which are irreversible. within addition to eye care services, these individuals could benefit from government services and rehabilitation to improve their quality of life and promote equitable, inclusive social participation. Although numerous government policies address this, little is known about their perception and implementation. Methods: Semi-structured individual online interviews were conducted with 29 people (7 low vision, 12 blind, 6 educators/rehabilitators, 4 medical doctors) in Peru between July and November 2024. Each participant was asked to respond to the same 16 open-ended questions. Their transcripts were coded into themes in 5 domains: assistive devices, vision rehabilitation services, government assistance programs, accessibility for people with visual impairments, and eye care services. The themes were compared among members of each group. Results: Themes from educators/rehabilitators aligned well with those with blindness but much less with ophthalmologists and those with low vision. Participants mentioned that assistive devices are not traditionally provided by the government. There was little mention of vision rehabilitation services, particularly from low vision participants. Additionally, participants with visual impairments mentioned a lack of sensitivity from teachers, employers, and transport drivers. Interestingly, none of the participants with visual impairments benefitted from financial assistance. Conclusions: Many of the barriers are societal, referring to the lack of understanding from the public in relation to employment, education, transportation, or the use of assistive devices. People with visual impairments and educators should be included in any policy decisions to promote equality for Peruvians with vision loss. Full article

Background/Objectives: Cerebral visual impairment (CVI) is the leading cause of visual disability in children, resulting from damage to the brain’s visual processing pathways. Although ocular structures may be intact, functional vision, the use of vision in daily tasks, is often significantly affected. Cognitive Rehabilitation Therapy (CRT) has shown potential to enhance cognitive functions through neuroplasticity, yet its influence on functional vision remains underexplored. This exploratory pilot study aimed to examine whether CRT could improve functional vision in children with CVI by targeting underlying cognitive deficits. Methods: A single-arm pre–post intervention study was conducted with nine children aged 7–11 years diagnosed with CVI. Participants received 20 individualized CRT sessions over ten weeks, integrating principles from the Model of Visual Functioning. Functional vision was evaluated using the Gazi Functional Vision Assessment Instrument (GFVAI), while cognitive improvements were measured with the Dynamic Occupational Therapy Cognitive Assessment for Children (DOTCA-Ch) and the Motor-Free Visual Perception Test-4 (MVPT-4). Data were analyzed using Wilcoxon signed-rank tests. Results: Statistically significant improvements were observed in GFVAI domains such as light sensitivity, distant visual field, focusing, maintaining focus, and obstacle avoidance (p < 0.05 to p < 0.01). Qualitative analysis also indicated a shift from low/moderate to good/very good performance in most functional vision categories. Cognitive domains, including visual-motor organization, thinking operations, and spatial perception, showed significant gains. Conclusions: CRT may support improvements in functional vision by enhancing cognitive processes in children with CVI. This therapist-led approach is feasible, adaptable, and holds promise for widespread application in pediatric rehabilitation. Full article

Diabetic retinopathy (DR) is a leading cause of vision loss in patients with diabetes. While medical treatments like retinal laser photocoagulation, anti-VEGF therapy, and vitrectomy are primary, complementary therapies are gaining increasing attention. Based on the existing literature, a healthy lifestyle, including a balanced diet, stress management techniques, and regular physical activity targeting DR, can help regulate blood sugar levels and improve overall physical and mental health to reduce complications. This article explores physical activities and visual training methods related to DR, emphasizing complementary therapies, even though some of these practices are currently not fully integrated into evidence-based ophthalmology. Low vision exercises and aids help patients make the most of their remaining vision, improving their ability to perform everyday tasks, reducing the impact of vision loss, and promoting independence. There is some evidence that eye-related physiotherapy can improve the quality of life for patients with DR, although selection bias cannot be excluded in the presented studies. Consistent physical activity promotes holistic health, and therapies should be regularly monitored by ophthalmologists. This review further helps integrative healthcare professionals in offering appropriate therapies for rehabilitation purposes in the treatment of ophthalmic diseases, particularly DR. Full article

Background: KIF11 mutations are responsible for a large portion of microcephaly with or without chorioretinopathy, lymphedema or impaired intellectual development (MCLMR). Methods: This report describes longitudinal ophthalmological management of an 8-year-old male pediatric patient presenting with MCLMR diagnosed in infancy and associated with a novel, de novo KIF11 mutation. Results: The patient presented with ophthalmological features of low visual acuity and chorioretinal atrophy and later developed bilateral retinal detachments. Syndromic features included microcephaly and developmental delay. Scleral buckling and vitrectomy were ultimately performed in both eyes, with a period of conservative management in the interim. Postoperative visual acuity was preserved in the right eye, although poor in the left eye. The patient received low-vision rehabilitation services and was able to participate in school and extracurricular activities. Conclusions: Early recognition and close monitoring of ocular and systemic manifestations of KIF11 mutations are important to optimize visual rehabilitation efforts. Full article

Background: Despite evidence that low vision rehabilitation (LVR) services can improve visual function in patients with neovascular age-related macular degeneration (nAMD), many patients are not directed to access these resources. This study was conducted to determine factors associated with LVR referral and to assess the visual outcomes from completed evaluations. Methods: The study comprised a retrospective, cross-sectional analysis of patients with nAMD. Referrals for LVR services were extracted from the electronic health record (EHR). The effectiveness of each evaluation was determined by assessing the change in best corrected visual acuity (BCVA) achieved after distance refraction. Costs, quality-adjusted life years (QALYs), and incremental costs per-QALY-gained were calculated based upon the better-seeing eye by using a willingness-to-pay threshold of $50,000/QALY. Results: Out of 560 eligible patients with nAMD, 110 were referred for LVR (19.6%). Referral was more common for individuals who qualified as having low vision, based upon the visual acuity of the better-seeing eye (adjusted odds ratio [aOR], 3.214; 95% confidence interval [CI], 1.920–5.380, p < 0.001), had bilateral nAMD (aOR, 1.592; 95% CI, 1.017–2.492, p = 0.042), or had commercial health insurance compared to those who had Medicare (aOR, 2.887; 95% CI, 1.041–8.009, p = 0.042). Most patients referred completed LVR appointments (86%). More than half of the patients achieved improved BCVA for their better-seeing eye (53%) yielding an average gain of 0.04 QALYs/patient at a cost of $3504/QALY. The estimated net monetary benefit was $1704 per evaluation completed. Conclusions: Most patients with nAMD achieved improvements in visual function after low vision evaluation, yielding improvements in vision-related quality of life at a reasonable cost. Full article

The restoration of fine motor function in the hand is crucial for stroke survivors with hemiplegia to reintegrate into daily life and presents a significant challenge in post-stroke rehabilitation. Current mirror rehabilitation systems based on wearable devices require medical professionals or caregivers to assist patients in donning sensor gloves on the healthy side, thus hindering autonomous training, increasing labor costs, and imposing psychological burdens on patients. This study developed a low-load wearable hand function mirror rehabilitation robotic system based on visual gesture recognition. The system incorporates an active visual apparatus capable of adjusting its position and viewpoint autonomously, enabling the subtle monitoring of the healthy side’s gesture throughout the rehabilitation process. Consequently, patients only need to wear the device on their impaired hand to complete the mirror training, facilitating independent rehabilitation exercises. An algorithm based on hand key point gesture recognition was developed, which is capable of automatically identifying eight distinct gestures. Additionally, the system supports remote audio–video interaction during training sessions, addressing the lack of professional guidance in independent rehabilitation. A prototype of the system was constructed, a dataset for hand gesture recognition was collected, and the system’s performance as well as functionality were rigorously tested. The results indicate that the gesture recognition accuracy exceeds 90% under ten-fold cross-validation. The system enables operators to independently complete hand rehabilitation training, while the active visual system accommodates a patient’s rehabilitation needs across different postures. This study explores methods for autonomous hand function rehabilitation training, thereby offering valuable insights for future research on hand function recovery. Full article

The fundamental role of vision during development and the nurturing role of early intersubjectivity have enabled the Robert Hollman Foundation to develop an early intervention program providing holistic support to visually impaired children and their families, where fostering parent-infant interactions is at the heart of our care. The aim of this study is to understand how parents perceive this approach. It is an eleven-year retrospective study of children following the Robert Hollman Foundation’s early intervention program, in which parents’ (n = 1086) perceptions of quality of care were measured through the administration of a specifically designed 4-point scale questionnaire. Annual longitudinal trends of parents’ perceptions were calculated for every single response. Parents reported a very high satisfaction value in 21/23 questions (Mean > 3.7 out of a maximum score of 4, with the highest scores in human and soft skills of professionals) with a statistically positive trend (p < 0.05), throughout the period considered. Our core approach, based on an individualized nurturing relational support, has been appreciated and confirmed by the high satisfaction reported in the questionnaires by parents of children with visual impairment. We therefore hypothesize that parent-infant relationship-based and individualized approaches may help parents achieve better health, well-being, and quality of daily life for their children. Full article

Together with the wide range of possible benefits for the rehabilitation/training of people with multiple sclerosis (pwMS) and other neurologic conditions, exposure to immersive virtual reality (VR) has often been associated with unpleasant symptoms, such as transient dizziness, headache, nausea, disorientation and impaired postural control (i.e., cybersickness). Since these symptoms can significantly impact the safety and tolerability of the treatment, it appears important to correctly estimate their presence and magnitude. Given the existing data scarcity, this study aims to assess the existence and severity of possible adverse effects associated with exposure to immersive VR in a cohort of pwMS using both objective measurements of postural control effectiveness and subjective evaluations of perceived symptoms. To this aim, postural sway under upright quiet posture (in the presence and absence of visual input) of 56 pwMS with an Expanded Disability Status Scale score (EDSS) in the range of 0–6.5 (mean EDSS 2.3) and 33 unaffected individuals was measured before and after a 10-min immersive VR session and at 10 min follow-up on the basis of center of pressure (COP) trajectories. The severity of cybersickness symptoms associated with VR exposure was also self-rated by the participants using the Italian version of the Simulator Sickness Questionnaire (SSQ). Temporary impairments of postural control in terms of significantly increased sway area were observed after the VR session only in pwMS with mild–moderate disability (i.e., EDSS in the range of 2.5–6.5) in the presence of visual input. No changes were observed in pwMS with low disability (EDSS 0–2) and unaffected individuals. In contrast, when the visual input was removed, there was a decrease in sway area (pwMS with mild–moderate disability) and COP path length relating to the use of VR (pwMS with mild–moderate disability and unaffected individuals), thus suggesting a sort of “balance training effect”. Even in this case, the baseline values were restored at follow-up. All participants, regardless of their status, experienced significant post-VR side effects, especially in terms of blurred vision and nausea. Taken together, the findings of the present study suggest that a short immersive VR session negatively (eyes open) and positively (eyes closed) impacts the postural control of pwMS and causes significant disorientation. However, such effects are of limited duration. While it is reasonable to state that immersive VR is sufficiently safe and tolerable to not be contraindicated in the rehabilitation/training of pwMS, in order to reduce possible negative effects and maximize the efficacy, safety and comfort of the treatment, it appears necessary to develop specific guidelines that consider important factors like individual susceptibility, maximum exposure time according to the specific features of the simulation, posture to adopt and protocols to assess objective and perceived effects on participants. Full article

East and Southeast Asia (ESEA) are facing age-related eye health issues. Low-vision rehabilitation (LVR), which is a special rehabilitation service for individuals with vision impairment, is a promising solution for these health issues; however, poor accessibility to LVR services has been reported globally, including ESEA. Therefore, this scoping review aimed to summarize and understand the barriers to accessing LVR services in ESEA. In total, 20 articles were ultimately considered eligible for this scoping review after an electronic database search using MEDLINE (PubMed), Web of Science, Academic Search Ultimate (EBSCO), and Ichushi-Web (Japanese medical literature database), and an independent review by two reviewers. Twenty-one potential barrier factors were identified in the full-text review. Notably, age, education, economic status, “previous experience using eye care service”, and “knowledge, information, and awareness” were the possible barrier factors that were examined for their association with LVR utilization, with supportive evidence in many eligible studies. We also identified research gaps relating to geographical and ethnic diversity, the scope of LVR services, and barriers among eligible articles. Therefore, by conducting further studies addressing the research gaps identified in this scoping review, these findings can be used to make LVR services more accessible to people in ESEA. Full article

(1) Background: This study aims to highlight differences in the etiology and fitting of low vision aids in visually impaired children and adolescents in comparison to adults. (2) Methods: A retrospective data collection from visually impaired patients presenting to obtain assistive devices from 1 January 2016 to 30 April 2020 was conducted. A total of 502 patients were included. Inclusion criteria were a minimum age of 4 years and the chart notation of a best-corrected distance visual acuity in the patient record prior to the fitting of magnifying visual aids. (3) Results: Of the 502 patients, 147 (29.3%) were children under the age of 18 years. The most common cause of visual impairment in children was albinism, and in adults, it was age-related macular degeneration (AMD). Children showed better distance visual acuity, with a median of 0.88 logMAR (Logarithm of the Minimum Angle of Resolution) compared to 1.0 in adults (p = 0.001). Near visual acuity was also significantly better, with a median of 0.54 logMAR in children compared to 0.9 in adults (p < 0.001). Near and distance visual acuity were significantly improved by fitting magnifying visual aids (p < 0.001). After fitting, near visual acuity averaged 0.3 logMAR, and distance visual acuity, 0.7. The most commonly prescribed aids were optical vision aids, which 68.5% of the patients received; 43.8% received electronic aids. In children, optical aids were more frequently prescribed, and in adults, electronic and acoustic aids (p < 0.001). (4) Conclusion: Visually impaired patients can regain the ability to read and improve distance vision by using individually adapted and tested magnifying vision aids, often with optical aids alone. Differences between children and adults could be discovered in the etiology and severity of visual impairment, as well as in the provision type of low vision aids. Full article

Traditionally, initial material cost has been the governing factor for material selection in structural construction. However, the growing maintenance cost of existing infrastructure has demanded a long-term vision in material selection and in this regard, life cycle cost assessment has been proven to be a better assessment tool than the initial cost of construction. Despite its higher initial cost, aluminum offers many positive attributes, such as a high resistance to weight ratio, good recyclability, and excellent corrosion resistance, which can significantly reduce the life cycle cost of a structure over its entire service life. Yet, the limited use of aluminum in bridge construction and the lack of literature on this matter do not provide comprehensive evidence of its superior performance in the long-term. Based on this premise, this study performs a life cycle cost analysis on the first all-aluminum bridge situated in Arvida, Quebec. The analysis has revealed that most maintenance costs are associated with the rehabilitation of the concrete deck. The frequent concrete deck maintenance dismisses the benefits of the low maintenance aluminum structure. In order to investigate further, an alternative analysis has also been performed on the bridge with a hypothetical aluminum deck that replaces the existing concrete deck. The comparison shows that the aluminum deck reduces the maintenance cost significantly. However, further analysis should be performed with an optimized aluminum deck that can also yield a significantly lower life cycle cost compared to the existing bridge. Full article

(1) Background: Albinism is characterized by a lack of pigment in eyes, hair, and skin and developmental changes in the eye such as foveal hypoplasia. Patients require optical rehabilitation due to low vision, refractive errors, and photosensitivity. We aimed to assess vision-related quality of life in patients with albinism and to evaluate how this was affected by optical rehabilitation. (2) Methods: Patients with ocular or oculocutaneous albinism were invited for the study. Free-of-charge optical rehabilitation was provided as needed, including filters, glasses for near or distance, contact lenses, magnifiers or binoculars. Vision-related quality of life was assessed prior to and after optical rehabilitation using the visual function questionnaire (VFQ39) and the effect of optical rehabilitation was evaluated after accounting for age, gender, and visual acuity. (3) Results: Seventy-eight patients filled out the VFQ39 at the initial visit. Fifty patients (64.1%) returned the questionnaire 3–6 months after optical rehabilitation. The mean age of included patients was 35.9 years (standard deviation 16.6), and their best corrected distance visual acuity was 56 ETDRS letters (range 3–81). The VFQ39 composite score improved significantly from a median of 62.5 (range 14.2–77.0) to 76.5 (20.6–99.6). Significant improvements were seen for ocular pain, social functioning, mental health, role difficulties, and dependency, whereas self-assessed distance or near visual functions did not change. (4) Conclusions: Optical rehabilitation improved the self-reported vision-related quality of life in Danish patients with albinism on a number of parameters related to leading an independent and worry-free life, whereas visual improvement for distance and near tasks was likely limited by the nature of the disease and by the fact that most patients already had access to some optical aids prior to the study. Full article

The ground reaction force (GRF) recorded by a platform when a person stands upright lies at the interface between the neural networks controlling stance and the body sway deduced from centre of pressure (CoP) displacement. It can be decomposed into vertical (VGRF) and horizontal (HGRF) vectors. Few studies have addressed the modulation of the GRFs by the sensory conditions and their relationship with body sway. We reconsidered the features of the GRFs oscillations in healthy young subjects (n = 24) standing for 90 s, with the aim of characterising the possible effects of vision, support surface and adaptation to repeated trials, and the correspondence between HGRF and CoP time-series. We compared the frequency spectra of these variables with eyes open or closed on solid support surface (EOS, ECS) and on foam (EOF, ECF). All stance trials were repeated in a sequence of eight. Conditions were randomised across different days. The oscillations of the VGRF, HGRF and CoP differed between each other, as per the dominant frequency of their spectra (around 4 Hz, 0.8 Hz and <0.4 Hz, respectively) featuring a low-pass filter effect from VGRF to HGRF to CoP. GRF frequencies hardly changed as a function of the experimental conditions, including adaptation. CoP frequencies diminished to <0.2 Hz when vision was available on hard support surface. Amplitudes of both GRFs and CoP oscillations decreased in the order ECF > EOF > ECS ≈ EOS. Adaptation had no effect except in ECF condition. Specific rhythms of the GRFs do not transfer to the CoP frequency, whereas the magnitude of the forces acting on the ground ultimately determines body sway. The discrepancies in the time-series of the HGRF and CoP oscillations confirm that the body’s oscillation mode cannot be dictated by the inverted pendulum model in any experimental conditions. The findings emphasise the robustness of the VGRF “postural rhythm” and its correspondence with the cortical theta rhythm, shed new insight on current principles of balance control and on understanding of upright stance in healthy and elderly people as well as on injury prevention and rehabilitation. Full article

Retinitis pigmentosa (RP) comprises a group of inherited retinal dystrophies characterized by the degeneration of rod photoreceptors, followed by the degeneration of cone photoreceptors. As a result of photoreceptor degeneration, affected individuals experience gradual loss of visual function, with primary symptoms of progressive nyctalopia, constricted visual fields and, ultimately, central vision loss. The onset, severity and clinical course of RP shows great variability and unpredictability, with most patients already experiencing some degree of visual disability in childhood. While RP is currently untreatable for the majority of patients, significant efforts have been made in the development of genetic therapies, which offer new hope for treatment for patients affected by inherited retinal dystrophies. In this exciting era of emerging gene therapies, it remains imperative to continue supporting patients with RP using all available options to manage their condition. Patients with RP experience a wide variety of physical, mental and social-emotional difficulties during their lifetime, of which some require timely intervention. This review aims to familiarize readers with clinical management options that are currently available for patients with RP. Full article