Case
SR35
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Hidden
SR35
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Visit at age: 5 years
Fundus Photography - Right - 20/70 +1
Exemplar
Fundus Photography - Left - 20/70 +2
Exemplar
Visit at age: 13 years
Goldmann Visual Field - Right - 20/80 -2
Exemplar
Goldmann Visual Field - Left - 20/125
Exemplar
Visit at age: 17 years
Fundus Photography - Right - 20/70 -2
Exemplar
Fundus Photography - Left - 20/200
Exemplar
Goldmann Visual Field - Right - 20/70 -2
Exemplar
Goldmann Visual Field - Left - 20/200
Exemplar
Optical Coherence Tomography - Right - 20/70 -2
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 20/200
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/70 -2
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 Optic Neuropathy | OPA1 | IVS28-2 del4cAGTT | AD |