Case
SR2295
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Female
Female
Hidden
SR2295
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Female
Female
History
This 18 year old woman has not seen normally in dim light her entire life.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Enhanced S-Cone Syndrome | NR2E3 | Arg76Gln CGG>CAG | Arg104Trp CGG>TGG | AR |
Disease:
Gene:
Allele 1:
Arg76Gln CGG>CAG
Allele 2:
Arg104Trp CGG>TGG
Inheritance:
AR