Retinal Cone Dystrophy 3b (RCD3B)

Alias:
Cone Dystrophy with Supernormal Rod Responses
Rcd3b
Cone Dystrophy with Night Blindness and Supernormal Rod Responses, Kcnv2-Related
Cone Dystrophy with Night Blindness and Supernormal Rod Responses Kcnv2-Related
Cone Dystrophy with Supernormal Rod Electroretinogram
Cone Dystrophy with Supernormal Rod Response
Dystrophy, Retinal Cone, Type 3b
Cone Dystrophy Retinal 3b
Cdsrr
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Retinal Cone Dystrophy 3b, also known as cone dystrophy with supernormal rod responses, is related to pathologic nystagmus and night blindness, and has symptoms including photophobia An important gene associated with Retinal Cone Dystrophy 3b is KCNV2 (Potassium Voltage-Gated Channel Modifier Subfamily V Member 2), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Potassium Channels. Affiliated tissues include retina, and related phenotypes are strabismus and macular atrophy
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
7
46
10

Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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