SR1101
XL Congenital Stationary Night Blindness (IA2fi)
Male
Male
SR1101
XL Congenital Stationary Night Blindness (IA2fi)
Male
Male
History
This 25 year old man had nystagmus noticed in the first few weeks of life. He has always had poor night vision. His parents would recall that he would stop crawling when the lights were turned out at less than one year of age. He has never been able to see stars.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| XL Congenital Stationary Night Blindness | NYX | Trp273Stop TGG>TGA | XL |
Gene:
Allele 1:
Trp273Stop TGG>TGA
Allele 2:
Inheritance:
XL