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
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A GUCY2D variant associated cone-rod dystrophy with electronegative ERG: A case report and review [PDF]
American Journal of Ophthalmology Case ReportsPurpose: Cone-rod dystrophies (CORD) are inherited retinal dystrophies characterized by primary cone degeneration with secondary rod involvement. We report two patients from the same family with a dominant variant in the guanylate cyclase 2D (GUCY2D ...
Pei-Liang Wu +6 more
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JAMA OphthalmolImportanceReliable biomarkers with diagnostic and prognostic values are needed for upcoming gene therapy trials for spinocerebellar ataxias. ObjectiveTo identify ophthalmological biomarkers in a sample of spinocerebellar ataxia type 7 (SCA7) carriers.
Nassisi M +13 more
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Peripapillary vessel density in eyes with cone-rod dystrophy. [PDF]
PLoS ONEPurposeTo compared the vessel density (VD) around the optic nerve head (ONH) in eyes with cone-rod dystrophy (CORD) and healthy control eyes in a sector-wise manner and to investigate the relationship between VD around the ONH and visual function in CORD
Masato Shinozuka +14 more
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Various phenotypes of autosomal dominant cone-rod dystrophy with cone-rod homeobox mutation in two Chinese families [PDF]
International Journal of Ophthalmology, 2022 AIM: To present the clinical manifestations of 5 autosomal dominant cone-rod dystrophy (adCORD) patients from two Chinese families with cone-rod homeobox (CRX) mutation (p.R41W), and to explore the clinical heterogeneity of adCORD with CRX mutation (p ...
Hui Cui +6 more
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Molecular characterization of MAP9 in the photoreceptor sensory cilia as a modifier in canine RPGRIP1-associated cone-rod dystrophy [PDF]
Frontiers in Cellular Neuroscience, 2023 Photoreceptors possess a highly specialized primary cilium containing expanded ciliary membrane discs called the outer segment. The photoreceptor cilium is essential for the maintenance of the outer segment, and pathogenic variants in more than 50 cilia ...
Kei Takahashi +4 more
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Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family [PDF]
BMC Ophthalmology, 2021 Background Cone-rod dystrophy (CORD) is a group of inherited retinal dystrophies, characterized by decreased visual acuity, color vision defects, photophobia, and decreased sensitivity in the central visual field.
Yafang Wang +7 more
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Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. [PDF]
PLoS ONE, 2016 GNAT1, encoding the transducin subunit Gα, is an important element of the phototransduction cascade. Mutations in this gene have been associated with autosomal dominant and autosomal recessive congenital stationary night blindness. Recently, a homozygous
Cécile Méjécase +15 more
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Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series
Orphanet Journal of Rare Diseases, 2022 Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness.
Jin Kyun Oh +15 more
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Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology
EBioMedicine, 2021 Inherited retinal diseases (IRDs) were first classified clinically by history, ophthalmoscopic appearance, type of visual field defects, and electroretinography (ERG).
Alexandra V. Garafalo +5 more
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