Case
SR76
Student Mode
Batten Disease (IB3)
Male
Male
Hidden
SR76
Student Mode
Batten Disease (IB3)
Male
Male
Visit at age: 5 years
Fundus Photography - Right - 20/125 sc
Exemplar
Fundus Photography - Left - 20/200 sc
Exemplar
Visit at age: 5 years (Visit 2)
Goldmann Visual Field - Right - 20/125 sc
Exemplar
Goldmann Visual Field - Left - 20/160 sc
Exemplar
Visit at age: 6 years
Goldmann Visual Field - Right - Count Fingers 1' sc
Exemplar
Goldmann Visual Field - Left - Count Fingers 1' sc
Exemplar
Visit at age: 7 years
Fundus Photography - Right - 20/1250 sc
Exemplar
Fundus Photography - Left - <20/3200 sc
Exemplar
Fundus Montage - Right - 20/1250 sc
Exemplar
Fundus Montage - Left - <20/3200 sc
Exemplar
Visit at age: 9 years
Fundus Photography - Right - 20/3200 sc
Exemplar
Fundus Photography - Left - Light Perception
Exemplar
Optical Coherence Tomography - Right - 20/3200 sc
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
OCT Stack
Infrared Fundus Photograph - Right - 20/3200 sc
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 10 years
Optical Coherence Tomography - Right - 20/4000 sc
Exemplar
Optical Coherence Tomography - Left - Light Perception
Exemplar
Infrared Fundus Photograph - Right - 20/4000 sc
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 11 years
Optical Coherence Tomography - Right - 20/4000 sc
Exemplar / 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 - 20/4000 sc
Exemplar
Infrared Fundus Photograph - Left - Light Perception
Exemplar
Visit at age: 12 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
Optical Coherence Tomography - Left - No Light Perception
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Light Perception
Exemplar
Infrared Fundus Photograph - Left - No Light Perception
Exemplar
Visit at age: 13 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
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Batten Disease | PPT1 | Thr75Pro ACC>CCC | Arg122Trp AGG>TGG | AR |
Disease:
Gene:
Allele 1:
Thr75Pro ACC>CCC
Allele 2:
Arg122Trp AGG>TGG
Inheritance:
AR