Case
SR1791
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Hidden
SR1791
Student Mode
AD Optic Neuropathy (IIIC1a)
Male
Male
Visit at age: 5 years
Fundus Photography - Right - 20/50 sc
Exemplar
Fundus Photography - Left - 20/100 sc
Exemplar
Goldmann Visual Field - Right - 20/50 sc
Exemplar
Visit at age: 6 years
Goldmann Visual Field - Right - 20/60 +1 sc
Exemplar
Visit at age: 14 years
Fundus Photography - Right - 20/63 +2
Exemplar
Fundus Photography - Left - 20/200 +2 sc
Exemplar
Goldmann Visual Field - Right - 20/63 +2
Exemplar
Goldmann Visual Field - Left - 20/200 +2 sc
Exemplar
Optical Coherence Tomography - Right - 20/63 +2
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 20/200 +2 sc
Exemplar / OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 20/63 +2
Exemplar
Infrared Fundus Photograph - Left - 20/200 +2 sc
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 |