Case
SR2211
Student Mode
Achromatopsia (IA2d)
Male
Male
Hidden
SR2211
Student Mode
Achromatopsia (IA2d)
Male
Male
Visit at age: 7 years
Fundus Photography - Right - 10/200
Exemplar
Fundus Photography - Left - 10/100
Exemplar
Goldmann Visual Field - Right - 10/200
Exemplar
Goldmann Visual Field - Left - 10/100
Exemplar
Optical Coherence Tomography - Right - 10/200
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/100
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/200
Exemplar
Infrared Fundus Photograph - Left - 10/100
Exemplar
Green Autofluorescence - Right - 10/200
Exemplar
Green Autofluorescence - Left - 10/100
Exemplar
Visit at age: 8 years
Goldmann Visual Field - Right - 10/100
Exemplar
Goldmann Visual Field - Left - 10/100
Exemplar
Optical Coherence Tomography - Right - 10/100
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/100
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/100
Exemplar
Infrared Fundus Photograph - Left - 10/100
Exemplar
Visit at age: 9 years
Optical Coherence Tomography - Right - 10/125 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/100 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/125 -1
Exemplar
Infrared Fundus Photograph - Left - 10/100 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Achromatopsia | CNGB3 | Thr383 del1aC | Thr383 del1aC | AR |