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.
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Enhanced S-Cone Syndrome | NR2E3 | IVS1-2 A>C | Thr161 del1cccA | AR |