Case
SR1789
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Hidden
SR1789
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Visit at age: 13 years
Fundus Photography - Right - 20/40 -2
Exemplar
Fundus Photography - Left - 20/40
Exemplar
Visit at age: 26 years
Fundus Photography - Right - 20/80 -1
Exemplar
Fundus Photography - Left - 20/63 -1
Exemplar
Fundus Montage - Right - 20/80 -1
Exemplar
Fundus Montage - Left - 20/63 -1
Exemplar
Goldmann Visual Field - Right - 20/80 -1
Exemplar
Goldmann Visual Field - Left - 20/63 -1
Exemplar
Optical Coherence Tomography - Right - 20/80 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80 -1
Exemplar
Infrared Fundus Photograph - Left - 20/63 -1
Exemplar
B-Scan Ultrasonography - Right - 20/80 -1
Exemplar
Visit at age: 26 years (Visit 2)
Fundus Photography - Right - 20/60 -1
Exemplar
Fundus Photography - Left - 20/60 -1
Exemplar
Fundus Montage - Right - 20/60 -1
Exemplar
Fundus Montage - Left - 20/60 -1
Exemplar
Goldmann Visual Field - Right - 20/60 -1
Exemplar
Goldmann Visual Field - Left - 20/60 -1
Exemplar
Optical Coherence Tomography - Right - 20/60 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/60 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/60 -1
Exemplar
Infrared Fundus Photograph - Left - 20/60 -1
Exemplar
Visit at age: 27 years
Goldmann Visual Field - Right - 20/63 -1
Exemplar
Goldmann Visual Field - Left - 20/63
Exemplar
Optical Coherence Tomography - Right - 20/63 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 -1
Exemplar
Infrared Fundus Photograph - Left - 20/63
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Optic Neuropathy | OPA1 | Lys383Arg AAG>AGG | AD |