Case
SR2325
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR2325
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Visit at age: 5 years
Fundus Photography - Right - No Light Perception
Exemplar
Fundus Photography - Left - No Light Perception
Exemplar
Optical Coherence Tomography - Right - No Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - No Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - No Light Perception
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Visit at age: 10 years
Fundus Photography - Right - No Light Perception
Exemplar
Fundus Photography - Left - No Light Perception
Exemplar
Optical Coherence Tomography - Right - No Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - No Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - No Light Perception
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Visit at age: 13 years
Fundus Photography - Right - No Light Perception
Exemplar
Fundus Photography - Left - No Light Perception
Exemplar
Optical Coherence Tomography - Right - No Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - No Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - No Light Perception
Exemplar
Infrared Fundus Photograph - 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 | CEP290 | Lys127 del4aaAGAT | IVS26+1655 A>G | AR |
Disease:
Gene:
Allele 1:
Lys127 del4aaAGAT
Allele 2:
IVS26+1655 A>G
Inheritance:
AR