Case
SR2332
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR2332
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Visit at age: 17 years
Goldmann Visual Field - Right - 6/9 -1
Exemplar
Goldmann Visual Field - Left - 6/12
Exemplar
Visit at age: 38 years
Fundus Photography - Right - 20/50
Exemplar
Fundus Photography - Left - 20/50 -2
Exemplar
Visit at age: 57 years
Fundus Photography - Right - 20/125
Exemplar
Fundus Photography - Left - 20/160 +2
Exemplar
Fundus Montage - Right - 20/125
Exemplar
Fundus Montage - Left - 20/160 +2
Exemplar
Goldmann Visual Field - Right - 20/125
Exemplar
Goldmann Visual Field - Left - 20/160 +2
Exemplar
Optical Coherence Tomography - Right - 20/125
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125
Exemplar
Infrared Fundus Photograph - Left - 20/160 +2
Exemplar
Visit at age: 59 years
Goldmann Visual Field - Right - 20/200
Exemplar
Goldmann Visual Field - Left - 20/200
Exemplar
Optical Coherence Tomography - Right - 20/200
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200
Exemplar
Infrared Fundus Photograph - Left - 20/200
Exemplar
Blue Autofluorescence - Right - 20/200
Exemplar
Visit at age: 61 years
Goldmann Visual Field - Right - 20/125 +1
Exemplar
Goldmann Visual Field - Left - 20/125 +1
Exemplar
Optical Coherence Tomography - Right - 20/125 +1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 +1
Exemplar
Infrared Fundus Photograph - Left - 20/125 +1
Exemplar
Visit at age: 63 years
Optical Coherence Tomography - Right - 20/160 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 -1
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/160 -1
Exemplar
Infrared Fundus Photograph - Left - 20/160 -1
Exemplar
Blue Autofluorescence - Right - 20/160 -1
Exemplar
Blue Autofluorescence - Left - 20/160 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Cone and Cone Rod Dystrophy | GUCA1A | Leu151Phe CTC>TTC | AD |
Disease:
Gene:
Allele 1:
Leu151Phe CTC>TTC
Allele 2:
Inheritance:
AD