Results 71 to 80 of about 60,943 (273)
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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid +16 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
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
Seminars in epileptology: How to diagnose status epilepticus in adults and children
Epileptic Disorders, EarlyView.Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger +12 more
wiley +1 more source
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
New insights into applications of base editor in hereditary disorders
Interdisciplinary Medicine, EarlyView.Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source
Revista Cubana de Oftalmología, 1999 Con el objetivo de clasificar a los pacientes con Retinosis Pigmentaria y a sus respectivas familias según la herencia y exponer el valor de dicha clasificación, se realizó un estudio descriptivo con 354 individuos afectados, distribuidos en 191 familias
Elisa Dyce Gordon +2 more
doaj
Unilateral retinitis pigmentosa: case report
Revista de Medicina da UFC, 2015 Unilateral retinitis pigmentosa (URP) is a rare tapetoretinal dystrophy affecting only one eye. Criteria are necessary to make a correct diagnosis of URP: exclude all infective etiologies, check that the clinical signs of retinitis are present in the ...
Ricardo Evangelista Marrocos de Aragao +4 more
doaj +1 more source
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
semanticscholar +1 more source