cone-rod dystrophy


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cone-rod dystrophy

A form of retinitis pigmentosa in which central visual loss occurs first. Common symptoms include progressive visual loss followed by the loss of color perception, and eventually peripheral visual loss and night blindness. The visual loss is not correctable with standard lenses. See: retinitis pigmentosa
See also: dystrophy
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Specifically, Sanger sequencing of ABCA4, PRPH2/RDS-peripherin, and ELOVL4 was negative except for Proband 1, who had a heterozygous ABCA4 missense variant (c.2588G>C; p.Gly863Ala) and no family history of Stargardt disease or cone-rod dystrophy. This substitution has been previously reported as disease-causing (rs76157638; HGMD ID CS024003), but not associated with pericentral retinal degeneration (PRD) [29-32].
Peripheral Cone Dystrophy: Expanded Clinical Spectrum, Multimodal and Ultrawide-Field Imaging, and Genomic Analysis
Thiamine responsive megaloblastic anemia with cone-rod dystrophy. Optha Gen 2000; 21: 243-250.
Thiamine responsive megaloblastic anemia in two female siblings
Ziccardi et al., "Early detection of central visual function decline in cone-rod dystrophy by the use of macular focal cone electroretinogram," Investigative Ophthalmology and Visual Science, vol.
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease
However, they have also been shown to be 7 [micro]m and more in eyes with cone-rod dystrophy [35].
High-resolution imaging of patients with Bietti crystalline dystrophy with CYP4V2 mutation
Zonneveld et al., "Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease," Molecular Vision, vol.
Multimodal imaging in hereditary retinal diseases

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