Case
SR2709
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR2709
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Visit at age: 29 years
Fundus Photography - Right - No Light Perception
Exemplar
Fundus Photography - Left - No Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Congenital Amaurosis | GUCY2D | Met476 ins10aTGGGGCTGGC | Leu865 del1ttG | AR |
Disease:
Gene:
Allele 1:
Met476 ins10aTGGGGCTGGC
Allele 2:
Leu865 del1ttG
Inheritance:
AR