Case
SR2720
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Female
Female
Hidden
SR2720
Student Mode
Enhanced S-Cone Syndrome (IA2fiv)
Female
Female
History
This 12 year old female was discovered to have a hyperopic refraction in kindergarten. She recalls not being able to play outside with her friends at night about the same time.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Enhanced S-Cone Syndrome | NR2E3 | IVS1-2 A>C | Thr161 del1cccA | AR |
Disease:
Gene:
Allele 1:
IVS1-2 A>C
Allele 2:
Thr161 del1cccA
Inheritance:
AR