Results 41 to 50 of about 37,333 (227)
Case Reports in Ophthalmology, 2019 We report a case of bilateral serous retinal detachment in a patient with rod-cone dystrophy caused by mutation of BEST1. This followed creatine monohydrate use as a dietary supplement.
Konstantinos Kopsidas +5 more
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Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up. [PDF]
Mol Vis, 2019 Serra R +5 more
europepmc +2 more sources
Case Reports in Ophthalmology, 2018 Purpose: We report an unusual case of rapid and severe anterior capsular contraction associated with secondary intraocular lens (IOL) dislocation following cataract surgery in a patient with unspecified rod-cone dystrophy.
Jocelyn Lam, Bradley Sifrig, Hoon Jung
doaj +1 more source
Acta Medica Iranica, 2020 Cone-rod dystrophy (CORD) is one of the most common genetic eye disorders. Recent genetic studies have demonstrated that it is a genetically heterogeneous disease among patients.
Shahram Nasiri +3 more
doaj +1 more source
Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies
Biomolecules, 2023 Inherited retinal dystrophies (IRDs) are congenital retinal degenerative diseases that have various inheritance patterns, including dominant, recessive, X-linked, and mitochondrial.
Andrew Manley +3 more
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Scientific Reports, 2018 Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina.
J. Birtel +12 more
semanticscholar +1 more source
Alström Syndrome with Acute Pancreatitis: A Case Report
Kaohsiung Journal of Medical Sciences, 2003 We report the case of a 21-year-old female with Alström syndrome who also suffered from acute pancreatitis of obscure manifestation. The patient had underlying cone-rod dystrophy of the retinas, nystagmus, obesity, progressive sensorineural hearing ...
Wen-Chih Wu +9 more
doaj +1 more source
Frontiers in Molecular Neuroscience, 2014 RNA interference (RNAi) knockdown is an efficacious therapeutic strategy for silencing genes causative for dominant retinal dystrophies. To test this, we used self-complementary (sc) AAV2/8 vector to develop an RNAi-based therapy in two dominant retinal ...
Li eJiang +2 more
doaj +1 more source
Compound dominant-null heterozygosity in a family with RP1-related retinal dystrophy
American Journal of Ophthalmology Case Reports, 2022 Purpose: To report on the presence of autosomal dominant and compound dominant-null RP1-related retinitis pigmentosa in the same non-consanguineous family. Observation: The father was minimally symptomatic and referred by his optometrist aged 38.
Thomas M.W. Buckley +4 more
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Scientific Reports, 2017 Inherited retinal dystrophies are characterized by progressive retina degeneration and mutations in at least 250 genes have been associated as disease-causing.
Fabiana Louise Motta +5 more
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