SR680
Congenital Stationary Night Blindness (IA2f)
Female
Female
SR680
Congenital Stationary Night Blindness (IA2f)
Female
Female
History
This 20 year old woman has been significantly near sighted since early childhood. She has always been night blind and had some nystagmus noted in the first year of life.
Pedigree
| Age at visit: 4 years |
|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Congenital Stationary Night Blindness | TRPM1 | Leu99Pro CTC>CCC | Leu469Ser TTA>TCA | AR |
Gene:
Allele 1:
Leu99Pro CTC>CCC
Allele 2:
Leu469Ser TTA>TCA
Inheritance:
AR