last update : 26/09/20011
|
Symbol
| ESCS
|
Location
| 15q23
|
Name
|
enhanced S cone syndrome |
Corresponding gene
|
NR2E3
|
Main clinical features
|
absence of rod function
a replacement of most L and M cone function by S cone activity
variable degrees of retinal degeneration |
Genetic determination
| autosomal recessive |
Related entries
| including Goldmann-Favre syndrome , and Favre hyalideoretinal degeneration
|
Function/system disorder
| eye |
Type
| disease
|
Name
| nuclear receptor subfamily 2, group E, member 3
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
deletion
|  
|  
| in frame deletion c.[del196-201del6] (p.G66-C67del) causes a retinal developmental abnormality without retinal degeneration (PMID:21364904)
| other
|  
|  
| compound heterozygote for c.[119-2A>C]+[del194-202del9] (p.N65-C67del) causes retinal (PMID:21364904)
| |