Case
SR1066
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Hidden
SR1066
Student Mode
AD Cone and Cone Rod Dystrophy (IA1bii)
Male
Male
Visit at age: 30 years
Fundus Photography - Right - 20/160
Exemplar
Fundus Photography - Left - 20/100
Exemplar
Goldmann Visual Field - Right - 20/160
Exemplar
Goldmann Visual Field - Left - 20/100
Exemplar
Optical Coherence Tomography - Right - 20/160
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/100
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/160
Exemplar
Infrared Fundus Photograph - Left - 20/100
Exemplar
Visit at age: 32 years
Goldmann Visual Field - Right - 20/200 -1
Exemplar
Goldmann Visual Field - Left - 20/200
Exemplar
Optical Coherence Tomography - Right - 20/200 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/200 -1
Exemplar
Infrared Fundus Photograph - Left - 20/200
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 | Glu155Gly GAG>GGG | AD |
Disease:
Gene:
Allele 1:
Glu155Gly GAG>GGG
Allele 2:
Inheritance:
AD