Case
SR2300
Student Mode
Batten Disease (IB3)
Male
Male
Hidden
SR2300
Student Mode
Batten Disease (IB3)
Male
Male
Visit at age: 6 years
Fundus Photography - Right - 10/200
Exemplar
Fundus Photography - Left - 10/200
Exemplar
Goldmann Visual Field - Right - 10/200
Exemplar
Goldmann Visual Field - Left - 10/200
Exemplar
Optical Coherence Tomography - Right - 10/200
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/200
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/200
Exemplar
Infrared Fundus Photograph - Left - 10/200
Exemplar
Visit at age: 6 years (Visit 2)
Fundus Photography - Right - 5/100 sc
Exemplar
Fundus Photography - Left - 5/100 sc
Exemplar
Optical Coherence Tomography - Right - 5/100 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 5/100 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 5/100 sc
Exemplar
Infrared Fundus Photograph - Left - 5/100 sc
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