Case
SR715
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Hidden
SR715
Student Mode
Leber Congenital Amaurosis (IA2a)
Female
Female
Visit at age: 7 years
Fundus Photography - Right - No Light Perception
Exemplar
Fundus Photography - Left - No Light Perception
Exemplar
Fundus Montage - Right - No Light Perception
Exemplar
Fundus Montage - Left - No Light Perception
Exemplar
Visit at age: 11 years
Fundus Photography - Right - No Light Perception
Exemplar
Fundus Photography - Left - No Light Perception
Exemplar
Visit at age: 14 years
Fundus Photography - Right - No Light Perception
Exemplar
Fundus Photography - Left - No Light Perception
Exemplar
Fundus Montage - Right - No Light Perception
Exemplar
Fundus Montage - Left - No Light Perception
Exemplar
Optical Coherence Tomography - Right - No Light Perception
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - No Light Perception
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Visit at age: 16 years
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
Infrared Fundus Photograph - Right - No Light Perception
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Visit at age: 18 years
Optical Coherence Tomography - Right - Light Perception
Exemplar
Optical Coherence Tomography - Left - Light Perception
Exemplar
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 20 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 24 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - 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 | IVS26+1655 A>G | Glu1483 del4gAGAA | AR |
Disease:
Gene:
Allele 1:
IVS26+1655 A>G
Allele 2:
Glu1483 del4gAGAA
Inheritance:
AR