Case
SR355
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Hidden
SR355
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Visit at age: 10 years
Fundus Photography - Right - 20/80
Exemplar
Fundus Photography - Left - 20/63
Exemplar
Goldmann Visual Field - Right - 20/80
Exemplar
Goldmann Visual Field - Left - 20/63
Exemplar
Optical Coherence Tomography - Right - 20/80
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/63
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/80
Exemplar
Infrared Fundus Photograph - Left - 20/63
Exemplar
Visit at age: 11 years
Fundus Photography - Right - 20/150
Exemplar
Fundus Photography - Left - 20/80
Exemplar
Optical Coherence Tomography - Right - 20/150
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/80
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/150
Exemplar
Infrared Fundus Photograph - Left - 20/80
Exemplar
Visit at age: 15 years
Goldmann Visual Field - Right - 20/125 -2
Exemplar
Goldmann Visual Field - Left - 20/80 -1
Exemplar
Optical Coherence Tomography - Right - 20/125 -2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/80 -1
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/125 -2
Exemplar
Infrared Fundus Photograph - Left - 20/80 -1
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Optic Neuropathy | OPA1 | Arg748Stop CGA>TGA | AD |