Results 151 to 160 of about 40,110 (209)
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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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DOMINANT PROGRESSIVE CONE‐ROD DYSTROPHY
Acta Ophthalmologica, 1981The report describes a Finnish family in which retinal lesions associated with a considerable visual loss have been found in 19 probands in 5 consecutive generations. The progressive cone‐rod dystrophy diagnosed in the probands shows an autosomal dominant mode of inheritance. The onset of the disease was noticed in most of the probands early during the
O, Valle, H, Erkkilä, C, Raitta
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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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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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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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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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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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Progressive Cone Dystrophy and Cone-Rod Dystrophy
A heterogenous group of diseases, progressive cone dystrophy usually begins in the mid-teenage years or later in life. The estimated prevalence is 1 in 30,000-40,000 individuals. Patients usually present with decreased central vision and a color vision deficit; the visual loss is progressive and often accompanied by day blindness (hemeralopia) and ...Benjamin Kuang-Chien, Chiang +3 more
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