Case
SR2123
Student Mode
Batten Disease (IB3)
Male
Male
Hidden
SR2123
Student Mode
Batten Disease (IB3)
Male
Male
Visit at age: 5 years
Fundus Photography - Right - 20/320 sc
Exemplar
Fundus Photography - Left - 20/320 sc
Exemplar
Optical Coherence Tomography - Right - 20/320 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/320 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/320 sc
Exemplar
Infrared Fundus Photograph - Left - 20/320 sc
Exemplar
Visit at age: 7 years
Fundus Photography - Right - <5/200 sc
Exemplar
Fundus Photography - Left - <5/200 sc
Exemplar
Optical Coherence Tomography - Right - <5/200 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - <5/200 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - <5/200 sc
Exemplar
Infrared Fundus Photograph - Left - <5/200 sc
Exemplar
Visit at age: 7 years (Visit 2)
Fundus Photography - Right - Count Fingers 5"
Exemplar
Fundus Photography - Left - Count Fingers 5"
Exemplar
Optical Coherence Tomography - Right - Count Fingers 5"
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Count Fingers 5"
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Count Fingers 5"
Exemplar
Infrared Fundus Photograph - Left - Count Fingers 5"
Exemplar
Visit at age: 8 years
Optical Coherence Tomography - Right - Count Fingers 4"
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Count Fingers 4"
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Count Fingers 4"
Exemplar
Infrared Fundus Photograph - Left - Count Fingers 4"
Exemplar
Visit at age: 8 years (Visit 2)
Optical Coherence Tomography - Right - Count Fingers 6"
Exemplar / OCT Stack
Optical Coherence Tomography - Left - Count Fingers 3'
Exemplar
Infrared Fundus Photograph - Right - Count Fingers 6"
Exemplar
Infrared Fundus Photograph - Left - Count Fingers 3'
Exemplar
Visit at age: 9 years
Optical Coherence Tomography - Right - Count Fingers 3"
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Count Fingers 3"
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Count Fingers 3"
Exemplar
Infrared Fundus Photograph - Left - Count Fingers 3"
Exemplar
Visit at age: 9 years (Visit 2)
Optical Coherence Tomography - Right - Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/3840 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - 20/3840 sc
Exemplar
Visit at age: 10 years
Optical Coherence Tomography - Right - Light Perception
Exemplar / 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
Visit at age: 10 years (Visit 2)
Fundus Photography - Right - Light Perception
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
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
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