Case
SR325
Student Mode
Spinocerebellar Ataxia 34 (IB7b)
Male
Male
Hidden
SR325
Student Mode
Spinocerebellar Ataxia 34 (IB7b)
Male
Male
Visit at age: 58 years
Fundus Photography - Right - 20/70 sc
Exemplar
Fundus Photography - Left - 20/400 sc
Exemplar
Goldmann Visual Field - Right - 20/70 sc
Exemplar
Goldmann Visual Field - Left - 20/400 sc
Exemplar
Optical Coherence Tomography - Right - 20/70 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/400 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/70 sc
Exemplar
Infrared Fundus Photograph - Left - 20/400 sc
Exemplar
Visit at age: 59 years
Goldmann Visual Field - Right - Hand Motion
Exemplar
Goldmann Visual Field - Left - Light Perception
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Spinocerebellar Ataxia 34 | ELOVL4 | Ile171Thr ATT>ACT | AD |
Disease:
Gene:
Allele 1:
Ile171Thr ATT>ACT
Allele 2:
Inheritance:
AD