cone-rod dystrophy X-linked type 3

An X-linked pigmentary retinopathy (OMIM:300476) characterised by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration, leading to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.
Molecular pathology
Defects in CACNA1F on Xp11.23, which encodes the alpha-1F subunit of a voltage-dependent calcium channel, cause cone-rod dystrophy X-linked type 3.

单词	cone-rod dystrophy x-linked type 3
释义	cone-rod dystrophy X-linked type 3 cone-rod dystrophy X-linked type 3 An X-linked pigmentary retinopathy (OMIM:300476) characterised by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration, leading to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Molecular pathology Defects in CACNA1F on Xp11.23, which encodes the alpha-1F subunit of a voltage-dependent calcium channel, cause cone-rod dystrophy X-linked type 3.
随便看	wd-repeat-containing protein bing4 wd-repeat-containing protein monad wd-repeat-containing protein wdc146 wd-repeat-containing protein wrap73 wd repeat domain 21 wd repeat domain 23 wd repeat domain 28 wd repeat domain 30 wd repeat domain 32 wd repeat domain 39 wd repeat domain 40a wd repeat domain 40b wd repeat domain 40c wd repeat domain 42a wd repeat domain 42b wd repeat domain 42c wd repeat domain 68 wd repeat domain 9 wd repeat protein wdr9-form 2 wdrg wdri wdrl wdrll wdro wdrop