Case
SR2660
Student Mode
Cone and Cone Rod Dystrophy (IA1b)
Female
Female
Hidden
SR2660
Student Mode
Cone and Cone Rod Dystrophy (IA1b)
Female
Female
Visit at age: 16 years
Fundus Photography - Right - 20/32 -2 sc
Exemplar
Fundus Photography - Left - 20/25 -2 sc
Exemplar
Goldmann Visual Field - Right - 20/32 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/25 -2 sc
Exemplar
Optical Coherence Tomography - Right - 20/32 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/25 -2 sc
Exemplar
Visit at age: 17 years
Optical Coherence Tomography - Right - 20/32
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/32 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/32
Exemplar
Infrared Fundus Photograph - Left - 20/32 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Cone and Cone Rod Dystrophy | GUCY2D | Arg838Cys CGC>TGC | AD |
Disease:
Gene:
Allele 1:
Arg838Cys CGC>TGC
Allele 2:
Inheritance:
AD