Results 11 to 20 of about 27,235 (216)
Molecular Genetics and Metabolism Reports, 2022 A seven-month-old girl presented with bilateral roving nystagmus, hyperopia, and retinal dystrophy, and was brought to our ophthalmology clinic. Visual-evoked potentials (VEPs) were non-recordable in both the eyes.
Tsai-Chu Yeh +8 more
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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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Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy
American Journal of Ophthalmology Case Reports, 2019 Purpose: To report the case of an adolescent male with a history of Best macular dystrophy and retinal astrocytic hamartoma. Observations: A 15 year old male with a history of Best macular dystrophy who had been followed by ophthalmology for 9 years was ...
Stanford C. Taylor +2 more
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Clinical exome sequencing for inherited retinal degenerations at a tertiary care center
Scientific Reports, 2022 Inherited retinal degenerations are clinically and genetically heterogeneous diseases characterized by progressive deterioration of vision. This study aimed at assessing the diagnostic yield of exome sequencing (ES) for an unselected cohort of ...
Mythily Ganapathi +15 more
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Stem Cell Research, 2022 ABCA4-associated retinal dystrophy is the most frequent inherited retinal dystrophy caused by biallelic variants in ABCA4 gene. We induced a new pluripotent stem cell line (BIOi003-A) from peripheral blood mononuclear cells (PBMCs) of a 14-year-old ...
Lu Tian, Xiao-hui Zhang, Ke Xu, Yang Li
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INHERITED RETINAL DYSTROPHY IN THE RAT [PDF]
The Journal of Cell Biology, 1962 Retinal dystrophies, known in man, dog, mouse, and rat, involve progressive loss of photoreceptor cells with onset during or soon after the developmental period. Functional (electroretinogram), chemical (rhodopsin analyses) and morphological (light and electron microscopy) data obtained in the rat indicated two main processes: (a) overproduction of ...
J E, DOWLING, R L, SIDMAN
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Diagnostics, 2023 Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous.
Andrea Cusumano +7 more
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Gene therapy for retinal dystrophy [PDF]
Nature Medicine, 2019 Counteracting splice defects in the CEP290 gene using RNA antisense oligonucleotides or Cas9-mediated gene editing is a therapeutic strategy for Leber congenital amaurosis type 10—a severe untreatable retinal dystrophy leading to childhood blindness.
Sahel, José-Alain, Dalkara, Deniz
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Molecular Genetics & Genomic Medicine, 2020 Background Biallelic CLN3 gene variants have been found in either juvenile‐onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy.
Kei Mizobuchi +7 more
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Pattern retinal dystrophy in a case of myotonic dystrophy
Journal of Clinical Ophthalmology and Research, 2023 Myotonic dystrophy is an autosomal dominant disease which can present with various ocular manifestations. A case of myotonic dystrophy presented with limited visual recovery postcataract surgery. Multimodal imaging analysis, including fundus photography,
Chahveer Singh Bindra +2 more
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