Case
SR2624
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR2624
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Visit at age: 26 years
Fundus Photography - Right - Light Perception
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Visit at age: 28 years
Fundus Photography - Right - Light Perception
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | CEP290 | Ser1056 ins1tcA | IVS26+1655 A>G | AR |
Disease:
Gene:
Allele 1:
Ser1056 ins1tcA
Allele 2:
IVS26+1655 A>G
Inheritance:
AR