Case
SR52
Student Mode
Batten Disease (IB3)
Female
Female
Hidden
SR52
Student Mode
Batten Disease (IB3)
Female
Female
Visit at age: 7 years
Goldmann Visual Field - Right - 5/180 sc
Exemplar
Goldmann Visual Field - Left - 5/225 sc
Exemplar
Visit at age: 7 years (Visit 2)
Fundus Photography - Right - 5/180 sc
Exemplar
Fundus Photography - Left - 5/300 sc
Exemplar
Optical Coherence Tomography - Right - 5/180 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/300 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/180 sc
Exemplar
Infrared Fundus Photograph - Left - 5/300 sc
Exemplar
Visit at age: 8 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / 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
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 8 years (Visit 2)
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 9 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / OCT Stack
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: 10 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
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 11 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Light Perception
Exemplar / 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 |
|---|---|---|---|---|
| Batten Disease | CLN3 | Deletion Exons 9-10 | Deletion Exons 9-10 | AR |
Disease:
Gene:
Allele 1:
Deletion Exons 9-10
Allele 2:
Deletion Exons 9-10
Inheritance:
AR