Case
SR590
Student Mode
Achromatopsia (IA2d)
Female
Female
Hidden
SR590
Student Mode
Achromatopsia (IA2d)
Female
Female
Visit at age: 12 years
ERG - Left - 20/200 +1
Exemplar
Visit at age: 13 years
Fundus Photography - Right - 20/200
Exemplar
Fundus Photography - Left - 20/200
Exemplar
Visit at age: 32 years
Fundus Photography - Right - 20/100 +2
Exemplar
Fundus Photography - Left - 20/125 -1
Exemplar
Goldmann Visual Field - Right - 20/100 +2
Exemplar
Goldmann Visual Field - Left - 20/125 -1
Exemplar
Visit at age: 37 years
Goldmann Visual Field - Right - 20/125 +2 sc
Exemplar
Goldmann Visual Field - Left - 20/125 -2 sc
Exemplar
Visit at age: 47 years
Fundus Photography - Right - 20/100 -2 sc
Exemplar
Fundus Photography - Left - 20/125 -1 sc
Exemplar
Fundus Montage - Right - 20/100 -2 sc
Exemplar
Fundus Montage - Left - 20/125 -1 sc
Exemplar
Goldmann Visual Field - Right - 20/100 -2 sc
Exemplar
Goldmann Visual Field - Left - 20/125 -1 sc
Exemplar
Optical Coherence Tomography - Right - 20/100 -2 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -1 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -2 sc
Exemplar
Infrared Fundus Photograph - Left - 20/125 -1 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Achromatopsia | CNGA3 | Arg427Cys CGC>TGC | Cys191Tyr TGT>TAT | AR |
Disease:
Gene:
Allele 1:
Arg427Cys CGC>TGC
Allele 2:
Cys191Tyr TGT>TAT
Inheritance:
AR