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Objectives: To report ocular manifestations in patients with Fabry disease (FD) from a tertiary eye care center in Türkiye. Materials and Methods: This prospective, cross-sectional study included 30 eyes of 15 patients with FD. The diagnosis of FD was made based on a combination of clinical findings, genetic analysis, and biochemical evaluation. All participants underwent a detailed ophthalmic examination with special focus on the typical ocular features of FD (cornea verticillata, conjunctival aneurysms, cataract, retinal vessel tortuosity). Results: The mean age was 45±17 years (range: 22-75 years), with a female/male ratio of 2:3. All patients had tortuous conjunctival vessels and 12 patients (80%) had conjunctival aneurysms. Cornea verticillata was present in 10 patients (66.6%), lens opacification in 4 patients (26.6%), and retinal vascular tortuosity in 8 patients (53.3%). All patients had at least two different ocular findings; most (3 heterozygotes/7 hemizygotes) had a combination of corneal verticillata and conjunctival vessel abnormality. The conjunctiva, cornea, and retina were affected together in 5 hemizygous patients (33.3%). One hemizygous patient had all FD-related ocular manifestations in both eyes. Conclusion: To our knowledge, this study is the first to describe the ocular manifestations of FD in the Turkish population. Although cornea verticillata is considered a hallmark of FD, it was absent in approximately one-third of patients. Moreover, cataract, another well-known feature of FD, was present in only 26.6% of the patients. Conjunctival vascular abnormality alone seems to be quite rare in FD, although it often accompanies other ocular manifestations. Therefore, recognition of other mild findings and special consideration of their associations may increase the diagnostic value of ocular findings in FD. [ABSTRACT FROM AUTHOR]

Purpose: Early detection of sight-threatening disorders by technological applications like teleophthalmology and prompt treatment can help decrease visual impairment. This study evaluated the role of teleophthalmology in underserved rural areas along with cost-saving estimates for the end user. Methods: A prospective, observational, cross-sectional hospital-based study was conducted over 3 months. First 1000 teleconsultations were included. None of the patients denied providing informed consent. The patients were consulted at the eight vision centers and three satellite centers of the hospital in the nearby rural and tribal regions closer to their residential places. These vision and satellite centers were connected to the base hospital like a hub and spoke model with a teleophthalmology network. Results: Cataract (n = 301, 30.1%) and refractive error (n = 290, 29%) were the most common diagnosis. 42.1% of patients were referred to base hospital for further evaluation. Thus, a total of 57.9% of patients were not required to visit the base hospital for initial consultation, saving time and money. Furthermore, 15.1% of patients were provided medical treatment at the vision center and satellite center, which helped in making teleophthalmology cost-saving for the patients. An average of Rs. 621/- were saved per patient for the community in our study. Conclusion: Networked teleophthalmology model can be an affordable and feasible tool for providing eye care delivery services in rural and tribal regions of Gujarat and the whole country, especially for the end user. Thus, it may be a workable model in ophthalmology practice with substantial cost saving to the community. [ABSTRACT FROM AUTHOR]

Technological advancement has brought commendable changes in medicine, advancing diagnosis, treatment, and interventions. Telemedicine has been adopted by various subspecialties including ophthalmology. Over the years, teleophthalmology has been implemented in various countries, and continuous progress is being made in this area. In underserved populations, due to socioeconomic factors, there is little or no access to healthcare facilities, and people are at higher risk of eye diseases and vision impairment. Transportation is the major hurdle for these people in obtaining access to eye care in the main hospitals. There is a dire need for accessible eye care for such populations, and teleophthalmology is the ray of hope for providing eye care facilities to underserved people. Numerous studies have reported the advantages of teleophthalmology for rural populations such as being cost-effective, timesaving, reliable, efficient, and satisfactory for patients. Although it is being practiced in urban populations, for rural populations, its benefits amplify. However, there are certain obstacles as well, such as the cost of equipment, lack of steady electricity and internet supply in rural areas, and the attitude of people in certain regions toward acceptance of teleophthalmology. In this review, we have discussed in detail eye health in rural populations, teleophthalmology, and its effectiveness in rural populations of different countries. [ABSTRACT FROM AUTHOR]