Results 191 to 200 of about 37,333 (227)
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NMNAT1-ASSOCIATED CONE–ROD DYSTROPHY: EVIDENCE FOR A SPECTRUM OF FOVEAL MALDEVELOPMENT
Retinal cases & brief reports, 2020NMNAT1-associated retinopathy shows a consistent phenotype characterized by early-onset, progressive, cone > rod retinawide dysfunction and predominantly central abnormalities with a spectrum of severity ranging from a thin hypoplastic fovea to a ...
E. Bedoukian +4 more
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2016
Cone-rod dystrophy (CRD) is a progressive degenerative disorder predominantly of retinal cones with varying patterns of inheritance.
Salman A. Rahman, Veeral S. Shah
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Cone-rod dystrophy (CRD) is a progressive degenerative disorder predominantly of retinal cones with varying patterns of inheritance.
Salman A. Rahman, Veeral S. Shah
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Spondylometaphyseal dysplasia with cone-rod dystrophy
American Journal of Medical Genetics Part A, 2011The co-occurrence of skeletal dysplasia and ophthalmologic abnormality is extremely rare. We report on a boy of a unique form of spondylometaphyseal dysplasia associated with cone-rod dystrophy. He presented with postnatal severe short stature, progressive lower limb deformity with rhizomelic shortening of the long bones, prominent joints with limited ...
Hiroshi, Kitoh +5 more
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Archives of Ophthalmology, 1989
Three patterns of visual dysfunction were identified in patients with autosomal recessive or simplex cone-rod dystrophy using rod and cone electroretinography and light- and dark-adapted static threshold perimetry. In the first pattern, there was a central rod and cone scotoma with eccentric fixation, mild peripheral retinal dysfunction equally ...
K, Yagasaki, S G, Jacobson
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Three patterns of visual dysfunction were identified in patients with autosomal recessive or simplex cone-rod dystrophy using rod and cone electroretinography and light- and dark-adapted static threshold perimetry. In the first pattern, there was a central rod and cone scotoma with eccentric fixation, mild peripheral retinal dysfunction equally ...
K, Yagasaki, S G, Jacobson
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Dark Choroid in Cone-Rod Dystrophy
European Journal of Ophthalmology, 1992An unusual pattern of dark choroid in an eight-year-old girl is described. The ophthalmoscopic, fluorescein angiographic and functional changes were indicative of progressive cone-rod dystrophy.
A, Leys, W, Van De Sompel
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Clinical Subtypes of Cone-Rod Dystrophy
Archives of Ophthalmology, 1993To determine possible distinct phenotypic subtypes of cone-rod dystrophy.Thirty-three patients with cone-rod dystrophy (from 25 families) were assessed prospectively on electroretinography, visual field testing, psychophysical threshold profiles, and fundus features.
J P, Szlyk +4 more
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Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy
Ophthalmic Genetics, 2019Purpose: Cone-rod dystrophy (CRD) is an inherited retinal dystrophy that is transmitted via different modes of inheritance. Mutations in more than 30 genes have been identified to cause the disease.
Marjan Chapi +11 more
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Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Ophthalmic Genetics, 2010To report on the clinical ophthalmologic and radiographic findings in spondylometaphyseal dysplasia with cone-rod dystrophy.The spondylometaphyseal dysplasias are a rare and heterogeneous group of disorders characterized by skeletal abnormalities of the spine and the metaphyses of long bones.
M, Turell, S, Morrison, E I, Traboulsi
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Spondylometaphyseal dysplasia with cone‐rod dystrophy
American Journal of Medical Genetics Part A, 2004AbstractThe co‐occurrence of ophthalmologic abnormality and intrinsic skeletal dysplasia is uncommon. We describe eight instances of a unique form of spondylometaphyseal dysplasia (SMD) associated with cone‐rod dystrophy (although documentation is insufficient to be certain of that diagnosis in some).
Brent A, Walters +7 more
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Progressive cone–rod dystrophy
Clinical Eye and Vision Care, 1999Abstract Inherited macular dystrophies present with varying clinical signs. They possess significant overlap with other inherited retinal dystrophies and with several acquired retinal degenerations. A classification system for diagnostic purposes is crucial.
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