Case
SR44
Student Mode
Congenital Stationary Synaptic Dysfunction (IA2g)
Male
Male
Hidden
SR44
Student Mode
Congenital Stationary Synaptic Dysfunction (IA2g)
Male
Male
Visit at age: 8 years
Fundus Photography - Right - 20/80 sc
Exemplar
Fundus Photography - Left - 20/80 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/80 sc
Exemplar
Goldmann Visual Field - Left - 20/80 -1 sc
Exemplar
Visit at age: 10 years
Goldmann Visual Field - Right - 20/63 -1 sc
Exemplar
Goldmann Visual Field - Left - 20/80 -2
Exemplar
Optical Coherence Tomography - Right - 20/63 -1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 -1 sc
Exemplar
Infrared Fundus Photograph - Left - 20/80 -2
Exemplar
Visit at age: 13 years
Fundus Photography - Right - 20/63 -2 sc
Exemplar
Fundus Photography - Left - 20/63 -2
Exemplar
Fundus Montage - Right - 20/63 -2 sc
Exemplar
Fundus Montage - Left - 20/63 -2
Exemplar
Optical Coherence Tomography - Right - 20/63 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/63 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Congenital Stationary Synaptic Dysfunction | CACNA1F | Pro1055 ins1cggC | XL |
Gene:
Allele 1:
Pro1055 ins1cggC
Allele 2:
Inheritance:
XL