SR1790
AD Optic Neuropathy (IIIC1a)
Male
Male
SR1790
AD Optic Neuropathy (IIIC1a)
Male
Male
Visit at age: 42 years
Fundus Photography - Right - 20/30 -2 sc
Exemplar
Fundus Photography - Left - 20/25 -2 sc
Exemplar
Visit at age: 52 years
Fundus Photography - Right - 20/15
Exemplar
Fundus Photography - Left - 20/15 +2
Exemplar
Goldmann Visual Field - Right - 20/15
Exemplar
Goldmann Visual Field - Left - 20/15 +2
Exemplar
Optical Coherence Tomography - Right - 20/15
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/15 +2
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/15
Exemplar
Infrared Fundus Photograph - Left - 20/15 +2
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AD Optic Neuropathy | ACO2 | Ser274 ins1tC | AD |