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 light, impaired color ...
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...
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...
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 ...
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 ...
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...
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 first decade of life. In the young diseased probands the fundal lesions showed the pattern found in pure...
2. 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...
Rod-Cone Dystrophy Editor information Editors and Affiliations Department of Ophthalmology and Optometry, Medical University Vienna, Vienna, Austria Ursula Schmidt-Erfurth Department of Ophthalmology, Goethe University of Frankfurt am Main, Frankfurt am Main, Germany...