Case
SR2200
Student Mode
Blue Cone Monochromacy (IA2e)
Male
Male
Hidden
SR2200
Student Mode
Blue Cone Monochromacy (IA2e)
Male
Male
Visit at age: 30 years
Fundus Photography - Right - 20/60
Exemplar
Fundus Photography - Left - 20/60
Exemplar
Visit at age: 55 years
Fundus Photography - Right - 20/125 +2
Exemplar
Fundus Photography - Left - 20/125 +1
Exemplar
Fundus Montage - Right - 20/125 +2
Exemplar
Fundus Montage - Left - 20/125 +1
Exemplar
Optical Coherence Tomography - Right - 20/125 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 +1
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 +2
Exemplar
Infrared Fundus Photograph - Left - 20/125 +1
Exemplar
Visit at age: 56 years
Optical Coherence Tomography - Right - 20/125 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/160 +2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -1
Exemplar
Infrared Fundus Photograph - Left - 20/160 +2
Exemplar
Visit at age: 58 years
Optical Coherence Tomography - Right - 20/100
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100
Exemplar
Infrared Fundus Photograph - Left - 20/125
Exemplar
Visit at age: 59 years
Optical Coherence Tomography - Right - 20/100 -1
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/125 -2
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/100 -1
Exemplar
Infrared Fundus Photograph - Left - 20/125 -2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Blue Cone Monochromacy | L/M OPSIN Cluster | Deletion of LW opsin genes + Gly204Ser GGC>AGC in single MW opsin gene | XL |
Disease:
Gene:
Allele 1:
Deletion of LW opsin genes + Gly204Ser GGC>AGC in single MW opsin gene
Allele 2:
Inheritance:
XL