Results 161 to 170 of about 10,452 (214)

Dark Choroid in Cone-Rod Dystrophy

European Journal of Ophthalmology, 1992
An 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
openaire   +3 more sources

Further delineation of spondylometaphyseal dysplasia with cone‐rod dystrophy

American Journal of Medical Genetics Part A, 2008
AbstractThere are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone‐rod dystrophy, without other significant impairments. The entity was named SMD‐CRD.
Sousa, Sérgio B., Russell-Eggitt, Isabelle, Hall, Christine, Hall, Bryan D., Hennekam, Raoul C. M.   +4 more
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Cone Dystrophy/Cone-Rod Dystrophy

2022
Park Jung Hyun
exaly   +2 more sources

Cone‐Rod Dystrophy

American journal of optometry and physiological optic, 1978
Abstract Cone‐rod dystrophy is considered one of the rarer hereditary retinal degenerations. This disease can be easily mistaken for a number of other conditions because of its unusual characteristics. This paper discusses these characteristics and presents a case report to illustrate how the optometrist can effectively manage ...
L C, Norden, J F, Amos, R D, Newcomb
openaire   +2 more sources

Dominant cone-rod dystrophy

Documenta Ophthalmologica, 1975
Six generations of a family were studied extensively allowing the description of an autosomal dominant dystrophy of both rods and cones. The dystrophy is characterized by onset between ages 6 and 8 with gradual decrease in vision and progression to the point of no light perception.
H M, Hittner, A L, Murphree, C A, Garcia, J, Justice, D B, Chokshi   +4 more
openaire   +2 more sources

Spondylometaphyseal dysplasia with cone-rod dystrophy

American Journal of Medical Genetics Part A, 2011
The 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, Hiroshi, Kaneko, Mineo, Kondo, Toshiyuki, Yamamoto, Naoki, Ishiguro, Gen, Nishimura   +5 more
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DOMINANT PROGRESSIVE CONE‐ROD DYSTROPHY

Acta Ophthalmologica, 1981
The 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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Cone-Rod Dystrophies

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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Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Ophthalmic Genetics, 2010
To 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
openaire   +2 more sources