Case
SR249
Student Mode
Congenital Stationary Synaptic Dysfunction (IA2g)
Male
Male
Hidden
SR249
Student Mode
Congenital Stationary Synaptic Dysfunction (IA2g)
Male
Male
Visit at age: 45 years
Fundus Photography - Right - 20/100
Exemplar
Fundus Photography - Left - 20/100
Exemplar
Goldmann Visual Field - Right - 20/100
Exemplar
Goldmann Visual Field - Left - 20/100
Exemplar
Optical Coherence Tomography - Right - 20/100
Exemplar
Optical Coherence Tomography - Left - 20/100
Exemplar
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/100
Exemplar
ERG - Right - 20/100
Exemplar
ERG - Left - 20/100
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Congenital Stationary Synaptic Dysfunction | CACNA1F | Arg513Stop CGA>TGA | XL |
Gene:
Allele 1:
Arg513Stop CGA>TGA
Allele 2:
Inheritance:
XL