Case
SR591
Student Mode
Achromatopsia (IA2d)
Female
Female
Hidden
SR591
Student Mode
Achromatopsia (IA2d)
Female
Female
Visit at age: 31 years
Fundus Photography - Right - 20/200
Exemplar
Fundus Photography - Left - 20/200
Exemplar
Visit at age: 32 years
Fundus Photography - Right - 20/200
Exemplar
Fundus Photography - Left - 20/200
Exemplar
Goldmann Visual Field - Right - 20/200
Exemplar
Goldmann Visual Field - Left - 20/200
Exemplar
Visit at age: 37 years
Fundus Photography - Right - 20/300
Exemplar
Fundus Photography - Left - 20/300
Exemplar
Visit at age: 41 years
Fundus Photography - Right - 20/500 sc
Exemplar
Fundus Photography - Left - 20/500 sc
Exemplar
Visit at age: 49 years
Fundus Photography - Right - Count Fingers 2' sc
Exemplar
Fundus Photography - Left - Count Fingers 2' sc
Exemplar
Goldmann Visual Field - Right - Count Fingers 2' sc
Exemplar
Goldmann Visual Field - Left - Count Fingers 2' sc
Exemplar
Visit at age: 55 years
Goldmann Visual Field - Right - 20/400 sc
Exemplar
Goldmann Visual Field - Left - 20/400 sc
Exemplar
Visit at age: 58 years
Fundus Photography - Right - Count Fingers 3' sc
Exemplar
Fundus Photography - Left - 20/400 sc
Exemplar
Goldmann Visual Field - Right - Count Fingers 3' sc
Exemplar
Goldmann Visual Field - Left - 20/400 sc
Exemplar
Visit at age: 62 years
Fundus Photography - Right - Count Fingers 3'
Exemplar
Fundus Photography - Left - Count Fingers 3'
Exemplar
Goldmann Visual Field - Right - Count Fingers 3'
Exemplar
Goldmann Visual Field - Left - Count Fingers 3'
Exemplar
Optical Coherence Tomography - Right - Count Fingers 3'
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - Count Fingers 3'
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - Count Fingers 3'
Exemplar
Infrared Fundus Photograph - Left - Count Fingers 3'
Exemplar
Visit at age: 67 years
Goldmann Visual Field - Right - 5/300
Exemplar
Goldmann Visual Field - Left - 5/300
Exemplar
Optical Coherence Tomography - Right - 5/300
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/300
Exemplar / OCT Stack
OCT Stack
OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/300
Exemplar
Infrared Fundus Photograph - Left - 5/300
Exemplar
Visit at age: 70 years
Goldmann Visual Field - Right - 5/350 sc
Exemplar
Goldmann Visual Field - Left - 5/350 sc
Exemplar
Optical Coherence Tomography - Right - 5/350 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 5/350 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 5/350 sc
Exemplar
Infrared Fundus Photograph - Left - 5/350 sc
Exemplar
Visit at age: 72 years
Optical Coherence Tomography - Right - 5/350 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 5/350 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 5/350 sc
Exemplar
Infrared Fundus Photograph - Left - 5/350 sc
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 |