SR1740
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
SR1740
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Visit at age: 17 years
Goldmann Visual Field - Right - 20/30
Exemplar
Goldmann Visual Field - Left - 20/30 -2
Exemplar
Visit at age: 32 years
Fundus Photography - Right - 20/40
Exemplar
Fundus Photography - Left - 20/25
Exemplar
Fundus Montage - Right - 20/40
Exemplar
Fundus Montage - Left - 20/25
Exemplar
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Blue Autofluorescence - Right - 20/40
Exemplar
Blue Autofluorescence - Left - 20/25
Exemplar
Visit at age: 34 years
Goldmann Visual Field - Right - 20/40
Exemplar
Goldmann Visual Field - Left - 20/25
Exemplar
Optical Coherence Tomography - Right - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40
Exemplar
Infrared Fundus Photograph - Left - 20/25
Exemplar
Visit at age: 36 years
Optical Coherence Tomography - Right - 20/40 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/40 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 -1
Exemplar
Visit at age: 37 years
Goldmann Visual Field - Right - 10/300
Exemplar
Goldmann Visual Field - Left - 20/63 +1
Exemplar
Visit at age: 37 years (Visit 2)
Optical Coherence Tomography - Right - 20/125 +1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/40
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 +1
Exemplar
Infrared Fundus Photograph - Left - 20/40
Exemplar
Visit at age: 38 years
Optical Coherence Tomography - Right - 20/200 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/25 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -1
Exemplar
Infrared Fundus Photograph - Left - 20/25 -2
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 | Asp148Glu GAT>GAA | AD |
Disease:
Gene:
Allele 1:
Asp148Glu GAT>GAA
Allele 2:
Inheritance:
AD