Case
SR331
Student Mode
Congenital Stationary Cone Dysfunction (IA2d)
Female
Female
Hidden
SR331
Student Mode
Congenital Stationary Cone Dysfunction (IA2d)
Female
Female
Visit at age: 42 years
Fundus Photography - Right - 20/300
Exemplar
Fundus Photography - Left - 20/250
Exemplar
Goldmann Visual Field - Right - 20/300
Exemplar
Goldmann Visual Field - Left - 20/250
Exemplar
Optical Coherence Tomography - Right - 20/300
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/250
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/300
Exemplar
Infrared Fundus Photograph - Left - 20/250
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Congenital Stationary Cone Dysfunction | KCNV2 | Glu148Stop GAA>TAA | Glu148Stop GAA>TAA | AR |
Gene:
Allele 1:
Glu148Stop GAA>TAA
Allele 2:
Glu148Stop GAA>TAA
Inheritance:
AR