Cone Rod Dystrophy Cone Rod Dystrophy (CRD) is a genetic retinal disease that affects people both young and old. The genetic mutations passed down from parents to their children cause the retina cones and rods to degenerate, resulting in decreased sharpness in vision, increased sensitivity to ...
Purpose: To describe three siblings with childhood cone-rod dystrophy and macular cystic degeneration in a family with apparently variable phenotypes of CRB1-related recessive retinal dystrophy.Methods: Ophthalmologic examination (including electroretinography (ERG), ocular coherence tomography (OCT), and ...
1)cone-rod dystrophy视锥-视杆细胞营养不良 1.Over 500 mutations in the gene encoding ABCA4 are associated with a spectrum of related autosomal recessive retinal degenerative diseases including Stargardt macular degeneration,cone-rod dystrophyand a subset of retinitis pigmentosa.ABCA4的基因编码区有超过50...
rod-cone dystrophyAlso found in: Dictionary, Thesaurus, Encyclopedia. rod-cone dystrophy A form of retinitis pigmentosa in which rod degeneration precedes cone degeneration. Night blindness is usually the first symptom, followed by peripheral visual loss. See also: dystrophy...
Foremost, the electrophysiologic profile for PRD resembles rod-cone dystrophy rather than cone or cone-rod dystrophy. Annular visual field loss is complete in PRD and may be incomplete in PCD. In case 2, the previously unreported variant in GUCY2D, associated with autosomal dominant cone-rod ...
Fig. 8. Rod-cone dystrophy associated with recessive p.Y405∗ RP1L1 variants. A: Fundus of a 55-year-old patient shows pale optic nerves, peripapillary atrophy, vascular attenuation, and peripheral retinal thinning. The left eye has a small region of mottling of the central macula. B: SD...
We describe a family with Danon disease and cone-rod dystrophy (CRD). Affected males of one family with Danon were invited for an extensive ophthalmologic examination, including color vision testing, fundus photography, Goldmann perimetry, full-field electroretinogram (ERG), and SD-OCT. Previous...
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. Se...
杆锥细胞退化 ...retinography,ERG):确认是否有杆锥细胞退化(cone-rod dystrophy)的情形,自出生时即可进行此项检查,检查患者的两侧锥 … www.docin.com|基于5个网页 3. 视锥视杆营养不良 视锥视杆营养不良(Cone-rod dystrophy): aipl1 rpgr视锥视杆营养不良3 (Cone-rod dystrophy 3): abca4 视锥视杆营...
Cone-rod degeneration Definition The cone-rod dystrophies are a heterogeneous group of inherited progressive retinal degenerative disorders, characterized by the primary progressive loss of cone photoreceptor function, with later or sometimes concomitant loss of rod photoreceptor function. Electroretinography ...