Results 21 to 30 of about 29,682 (236)
Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report
Journal of Medical Case Reports, 2022 Background Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus.
Fatemeh Bazvand, Esmaeil Asadi Khameneh
doaj +1 more source
Stem Cell Research, 2021 Retinal dystrophies associated to mutations in the CRB1 gene comprise a wide array of clinical presentations. A blood sample from a patient with a family history of CRB1-retinal dystrophy was used to prepare the iPSC line ESi082-A.
Alberto Cañibano-Hernández +5 more
doaj +1 more source
Retinal Vascular Disease in Limb-Girdle Muscular Dystrophy
, 2022 PURPOSETo report bilateral retinal vascular occlusive disease in limb-girdle muscular dystrophy. METHODSCase report. RESULTSA 34-year-old Asian woman was referred for evaluation and management of central retinal vein occlusion.
Kennedy, Thomas +3 more
core +1 more source
CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis
American Journal of Ophthalmology Case Reports, 2022 Purpose: To describe the unusual case of inflammatory CRB1-associated retinal dystrophy that initially presented with self-resolving opsoclonus. Observations: We report the case of a now 2-year-old female who developed opsoclonus without myoclonus at the
Angela S. Li +5 more
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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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Topographic mapping of retinal function with the SLO-mfERG under simultaneous control of fixation in Best's disease [PDF]
, 2003 Purpose: To introduce the scanning laser ophthalmoscope-evoked mfERG (SLO-mfERG) as a new method to measure focal retinal function. Methods: Sixty-two healthy individuals and 12 patients with Best's disease were examined.
Kalpadakis, P., Rudolph, G.
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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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CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History. [PDF]
Ophthalmol Retina, 2023 PURPOSE: To analyze the clinical characteristics, natural history, and genetics of CERKL-associated retinal dystrophy in the largest series to date. DESIGN: Multicenter retrospective cohort study.
Daich Varela M +10 more
europepmc +2 more sources