SR680
Congenital Stationary Night Blindness (IA2f)
Female
Female
SR680
Congenital Stationary Night Blindness (IA2f)
Female
Female
Visit at age: 4 years
ERG - N/A
Exemplar
Visit at age: 16 years
Goldmann Visual Field - Right - 20/63
Exemplar
Goldmann Visual Field - Left - 20/40
Exemplar
Visit at age: 20 years
Fundus Photography - Right - 20/40 +2
Exemplar
Fundus Photography - Left - 20/32 -1
Exemplar
Case Level Images
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