The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding the spectrum of this disease. This is an observational case series of patients with a clinical and molecular diagnosis of Bietti crystalline dystrophy that underwent multimodal imaging. Four unrelated patients are described with two known variants, c.802-8_810del17insGC and c.518T > G (p.Leu173Trp), and one novel missense variant, c.1169G > T (p.Arg390Leu). The patient with the novel homozygous variant had the most severe phenotype resulting in macular hole formation and retinal detachment in both eyes. To the best of our knowledge, there is no association of these features with Bietti crystalline dystrophy. Patient 1 was the youngest patient and had the mildest phenotype with crystals in the retina without chorioretinal atrophy and visual complaints. Patients 2 and 3 presented with fewer crystals and chorioretinal atrophy. These three patients presented a classic phenotype. The fourth patient presented with an atypical and severe phenotype. This study reveals a new genotype and new phenotype associated with this disorder.
Rare eye diseases such as inherited retinal diseases (IRDs) are challenging to diagnose genetically. IRDs are typically monogenic disorders and represent a leading cause of blindness in children and working-age adults worldwide. A growing number are now being targeted in clinical trials, with approved treatments increasingly available. However, access requires a genetic diagnosis to be established sufficiently early. Critically, the timely identification of a genetic cause remains challenging. We demonstrate that a deep-learning algorithm, Eye2Gene, trained on the largest imaging dataset of patients with IRDs currently available, provides expert-level accuracy for genetic diagnosis for the 36 most common molecular causes (top-5 accuracy = 85.6%). This algorithm has been deployed online (app.eye2gene.com) and externally validated on data provided by four different clinical centers. Eye2Gene can facilitate access to diagnostic expertise, only currently available in a limited number of specialist centers globally, and thereby dramatically accelerate the genetic diagnostic odyssey.
Objective: The objective of this work was to identify, through the questionnaire, favorable points and potentially impeding points for the purchase of Smart Mobb® as an auxiliary mobility technology for people with visual impairments. Methods: The questionnaire was applied at the Dorina Nowill Foundation for the Blind, an institution specialized in the care and rehabilitation of visually impaired people. The interview consisted of questions about the socioeconomic profile; Social; technological, in the context of assistive technologies; and health, including the individual and the difficulties he faces on a daily basis using his visual impairment. Results: Eight candidates were interviewed. The results indicate that Smart Mobb® has features that display the identity with respect to the people who study, showing inconsistency only in terms of the estimated average monthly value for sale and that these items are available for payment. Conclusion: It was found that it exists or desires, on the part of users who demand as much solutions in assisted technologies that carry greater technological content, and that appear as a solution proposal for the problem of urban mobility. With regard to price, most respondents are willing to pay an average monthly percentage below the minimum stipulated for the purchase of the Smart Mobb® electronic cane, or to set up a potential impediment to adherence
Introduction: Visually impaired people face many problems when it comes to urban mobility, even though law guarantees their rights. Many of them are able to guide well themselves using white canes and tactile devices, but they still needs some help from the others to successfully complete their journey or assignment, which reduces their autonomy or even their safety. When using public transportation, the visually impaired report lack of awareness and sensitivity of people in general. Improvements of labor field are also important in order to evidence the value of the visually challenged manpower to economy, exercising social inclusion and meliorating their self-esteem. Thus, the idea of a smart city is extremely relevant, because it characterizes progress of infrastructure and services using technology, making city administration, education, public security, health service, housing and transportation even more connected and efficient. The purpose of this study is to show that the combination between concepts related to mobility of unsighted people and to smart cities results in benefits for both the visually impaired and the society.Discussion: Improving visually impaired autonomy in mobility gathering concepts based on smart cities. Conclusion:The fusion of concepts related to visual impairment and smart cities is extremely beneficial for autonomy, mobility and economy.
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