Case
SR3051
Student Mode
Alagille Syndrome (IB)
Female
Female
Hidden
SR3051
Student Mode
Alagille Syndrome (IB)
Female
Female
Visit at age: 30 years
Fundus Photography - Right - Light Perception
Exemplar
Fundus Photography - Left - 20/63
Exemplar
Fundus Montage - Right - Light Perception
Exemplar
Fundus Montage - Left - 20/63
Exemplar
Goldmann Visual Field - Right - Light Perception
Exemplar
Goldmann Visual Field - Left - 20/63
Exemplar
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - 20/63
Exemplar
Visit at age: 32 years
Goldmann Visual Field - Left - 20/60
Exemplar
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/60
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - 20/60
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Alagille Syndrome | JAG1 | Gly193del1tatG | AD |