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Retinal degeneration
- ... wide range of retinal abnormalities. CACD2 peripherin 2 (retinal degeneration, slow) peripherin 2, homolog of mouse peripherin, photoreceptor type PRPH2_HUMAN RDS retinal degeneration slow protein retinal degeneration, slow Tetraspanin-22 TSPAN22 ...
- ... above), which is known as CLN3-associated isolated retinal degeneration. In affected individuals, vision impairment is caused by ... sensitive tissue at the back of the eye (retinal degeneration). People with CLN3-associated isolated retinal degeneration typically ...
- ... channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration. Physiology (Bethesda). 2005 Oct;20:292-302. doi: ...
- ... combination of nephronophthisis and breakdown of the retina (retinal degeneration). Joubert syndrome is a multisystem disorder that typically ...
- ... Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci. 2000 Dec;41(13): ...
- ... dystrophy (described above), cone dystrophy, and atrophic macular degeneration. These retinal disorders are characterized by progressive vision abnormalities, although ...
- ... lipofuscin is toxic to the cells of the retina and causes progressive vision loss in people with Stargardt macular degeneration. More About This Health Condition MedlinePlus Genetics provides ...
- ... characterized by a buildup of drusen beneath the retina starting in early adulthood (in contrast to age-related macular degeneration, which begins later in life). It is unclear ...
- ... CA, Abecasis GR, Swaroop A. Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina. Mol Vis. 2010 Jul 15;16:1317-23. ...
- The ELOVL4 gene provides instructions for making a protein that is found primarily in the retina, the specialized light-sensitive tissue that lines the back ...