Results 91 to 100 of about 10,452 (214)
Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort
Journal of OphthalmologyPurpose. The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods. The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry ...
Víctor R. López-Rodríguez +7 more
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Early onset retinal dystrophies: clinical clues to diagnosis for pediatricians
Italian Journal of Pediatrics, 2019 Introduction Inherited retinal dystrophies are major cause of severe progressive vision loss in children. Early recognition and diagnosis are essential for timely visual rehabilitation during the appropriate stages of the visual development, as well as ...
Agnese Suppiej +6 more
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Progressive Cone/Cone-Rod Dystrophy
, 2020 Progressive cone/cone-rod dystrophies (CRD) are a heterogeneous group of disorders characterized by early deterioration of visual acuity and color vision, and in some cases nystagmus. The prevalence is estimated to be 1/40,000. Patients usually present in childhood or early adult life.
Andrew Tsai +3 more
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PLoS ONE, 2014 Mutations in the RPE65 gene are associated with autosomal recessive early onset severe retinal dystrophy. Morphological and functional studies indicate early and dramatic loss of rod photoreceptors and early loss of S-cone function, while L and M cones ...
Daniela Klein +6 more
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Progressive Cone-Dystrophy, Cone-Rod Dystrophy, and Rod-Cone Dystrophies
Güncel Retina Dergisi (Current Retina Journal), 2021 Cone-rod dystrophies are retinopathies in which cones are mainly affected and rod-cone dystrophies (retinitis pigmentosa) are retinopathies in which rods are mainly affected. The most common symptoms in cone-rod dystrophies are a progressive decrease in central vision and color vision loss.
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Genetic analysis of limb girdle muscular dystrophy and Miyoshi myopathy [PDF]
, 2003 The autosomal recessive muscular dystrophies encompass limb girdle muscular dystrophy (LGMD) and Miyoshi myopathy (MM), which can show clinical and genetic overlap.
Summerill, Gillian
core
Supplementary Material for: GNB1-related rod-cone dystrophy: a case report
Introduction: The GNB1 (guanine nucleotide-binding protein, 1) gene encodes for the ubiquitous 1 subunit of heterotrimeric G proteins which are associated with G-protein-coupled receptors (GPCRs).
Kaminska K. (18008113) +6 more
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Clinical Features of a Pediatric Case with Cone Dystrophy
Van Tıp Dergisi, 2018 The cone dystrophy is a nonhomogenous group of inherited and progressive retinal diseases that affects chiefly the cone system. It is frequently characterized by progressive loss of visual acuity, photophobia, central scotoma, color vision disturbances ...
Lokman Balyen, Tuncay Küsbeci
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Scientific ReportsThe phenotypes of RP1-related inherited retinal dystrophies (RP1-IRD), causing autosomal dominant (AD) and autosomal recessive (AR) diseases, vary depending on specific RP1 variants. A common nonsense mutation near the C-terminus, c.5797 C > T (p.Arg1933*
Keigo Natsume +11 more
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A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy. [PDF]
Doc Ophthalmol, 2023 Scopelliti AJ +6 more
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