Results 141 to 150 of about 40,110 (209)
A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report. [PDF]
Medicine (Baltimore), 2018 Wang L +6 more
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Cone Dystrophy/Cone-Rod Dystrophy
Inherited Retinal Disease, 2022Park Jung Hyun
exaly +3 more sources
Progressive Cone Dystrophy and Cone-Rod Dystrophy (XL, AD, and AR)
Advances in Experimental Medicine and Biology, 2018A 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 ...
Stephen H, Tsang, Tarun, Sharma
openaire +3 more sources
A homozygous POC1B variant causes recessive cone-rod dystrophy
Ophthalmic Genetics, 2021Purpose: To report a case of initial cone dystrophy that advanced to a cone-rod dystrophy with homozygous variants in the POC1B gene. Methods: Retinal structure and visual function assessments were performed using fundoscopy, spectral-domain optical ...
Ann-Marie Peturson +2 more
semanticscholar +1 more source
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy
Genetics in MedicinePURPOSE Progressive inherited retinal degenerations (IRDs) affecting rods and cones are clinically and genetically heterogeneous and can lead to blindness with limited therapeutic options.
Camille Andrieu +2 more
exaly +2 more sources
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
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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
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 +4 more
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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 +4 more
openaire +2 more sources
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 ...
Emma C. Bedoukian +4 more
semanticscholar +1 more source
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
openaire +1 more source