| Symbol
| CORD6
|
| Location
| 17p13.1
|
| HGNC id
| 2249
|
| Name
|
retinal cone-rod dystrophy 6 |
| Corresponding gene
|
GUCY2D
|
| related resource
| Retinal Information Network
|
| Other symbol(s)
| COD4
|
| Main clinical features
|
visual symptoms usually commenced in childhood
. initial loss of visual acuity and abnormal color vision, characterized by progressive photophobia, decreased central vision and dyschromatopsia followed by night blindness and peripheral visual field loss
. a typical fundus appearance in advanced disease with macular atrophy; at ERG
decreased cone function but rod b-wave electroretinogram (ERG) was of normal latency and amplitude |
| Genetic determination
| autosomal dominant |
| Function/system disorder
| eye |
| Type
| disease
|
| Name
| retinal guanylate cyclase
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| unknown
|
|
| prominent R838C mutation, increasing stability of coiled coil structure holding the activated dimer together (activation by GUCA1 occuring with higher calcium concentration)
| |