Case
SR331
Student Mode
Congenital Stationary Cone Dysfunction (IA2d)
Female
Female
Hidden
SR331
Student Mode
Congenital Stationary Cone Dysfunction (IA2d)
Female
Female
History
This 42 year old woman had nystagmus noticed by her parents in the first year of life. She sees best at twilight and is uncomfortable in brighter light.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Congenital Stationary Cone Dysfunction | KCNV2 | Glu148Stop GAA>TAA | Glu148Stop GAA>TAA | AR |
Gene:
Allele 1:
Glu148Stop GAA>TAA
Allele 2:
Glu148Stop GAA>TAA
Inheritance:
AR