Retinitis Pigmentosa (RP)
Retinitis Pigmentosa(来自ICD-11)
别称:
Rod-Cone Dystrophy
Pigmentary Retinopathy
Rp
Pericentral Pigmentary Retinopathy
Non-Syndromic Retinitis Pigmentosa
Tapetoretinal Degeneration
Retinitis Pigmentosa 1
Rcd
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinitis Pigmentosa, also known as rod-cone dystrophy, is related to cone-rod dystrophy 2 and usher syndrome. An important gene associated with Retinitis Pigmentosa is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Olfactory Signaling Pathway and Visual phototransduction. The drugs Vitamin A and Lutein have been mentioned in the context of this disorder. Affiliated tissues include Eye and retina, and related phenotypes are intellectual disability and nystagmus
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参考文献
MALACARDS
Mit
AD
XL
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AR
XLR
Child
1-5/10000
864
8286
536
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MGI
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