Results 61 to 70 of about 60,185 (237)
International Journal of Retina and Vitreous, 2019 Degenerative retinal disease leads to significant visual morbidity worldwide. Diabetic retinopathy and macular degeneration are leading causes of blindness in the developed world.
P. Ludwig, S. Freeman, A. Janot
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel +2 more
wiley +1 more source
Unilateral retinitis pigmentosa and cone-rod dystrophy
Clinical Ophthalmology, 2009 Donald F FarrellEEG and Clinical Neurophysiology Laboratory, University of Washington Medical Center, Seattle, WA, USAPurpose: The purpose of this paper is to report 14 new cases of unilateral retinitis pigmentosa and three new cases of cone-rod ...
Donald F Farrell
doaj
Vitamins and Mineral Supplements for Retinitis Pigmentosa
Journal of Ophthalmology, 2019 Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies that is present with progressive vision loss, night blindness, visual field reduction, and retinal pigmentation of the fundus.
Ying Zhao +5 more
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Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon +20 more
wiley +1 more source
Amino acids in retinitis pigmentosa
Indian Journal of Ophthalmology, 1988 Retinitis pigmentosa may be associated with amino acid′ disorders; whether the association is incidental or consequential is not known. The present investigation on amino acids in retinitis pigmentosa indicates that the level of plasma amino acids
Singh M
doaj
Acta ophthalmologica, 2019 To find the potential relation between changes in retinal large vessels and terminal vessels using colour Doppler flow imaging (CDFI) and optical coherence tomography angiography (OCTA) and to compare the respective advantages of CDFI and OCTA in ...
Xiao-Na Wang +10 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales +6 more
wiley +1 more source
The Role of the Endothelin System in the Vascular Dysregulation Involved in Retinitis Pigmentosa
Journal of Ophthalmology, 2015 Retinitis pigmentosa is a clinical and genetic group of inherited retinal disorders characterized by alterations of photoreceptors and retinal pigment epithelium leading to a progressive concentric visual field restriction, which may bring about severe ...
Francesco Saverio Sorrentino +2 more
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Frontiers in Physiology, 2018 Retinitis pigmentosa (RP) is one of the most common clinical subtypes of retinal degeneration (RD), and it is a neurodegenerative disease that could cause complete blindness in humans because it ultimately affects the photoreceptors viability.
Mari-Luz Moreno +4 more
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