Case
SR646
Student Mode
AR Optic Neuropathy (IIIC2b)
Female
Female
Hidden
SR646
Student Mode
AR Optic Neuropathy (IIIC2b)
Female
Female
Visit at age: 3 years
Fundus Photography - Right - 20/160 sc
Exemplar
Fundus Photography - Left - 20/250 sc
Exemplar
Visit at age: 6 years
Fundus Photography - Right - 20/200 sc
Exemplar
Fundus Photography - Left - 20/250 sc
Exemplar
Goldmann Visual Field - Right - 20/200 sc
Exemplar
Goldmann Visual Field - Left - 20/250 sc
Exemplar
Visit at age: 7 years
Goldmann Visual Field - Right - 20/250 sc
Exemplar
Goldmann Visual Field - Left - 20/300 sc
Exemplar
Visit at age: 9 years
Goldmann Visual Field - Right - 10/160 -1 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Visit at age: 10 years
Fundus Photography - Right - 10/160 sc
Exemplar
Fundus Photography - Left - 10/200 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Optical Coherence Tomography - Right - 10/160 sc
Exemplar
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 10/160 sc
Exemplar
Infrared Fundus Photograph - Left - 10/200 sc
Exemplar
Visit at age: 11 years
Goldmann Visual Field - Right - 20/200 sc
Exemplar
Goldmann Visual Field - Left - 20/300 sc
Exemplar
Visit at age: 14 years
Goldmann Visual Field - Right - 10/160 +2 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Visit at age: 17 years
Goldmann Visual Field - Right - 10/160 +1 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Optical Coherence Tomography - Right - 10/160 +1 sc
Exemplar / OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160 +1 sc
Exemplar
Infrared Fundus Photograph - Left - 10/200 sc
Exemplar
Visit at age: 20 years
Fundus Photography - Right - 10/160 sc
Exemplar
Fundus Photography - Left - 10/200 sc
Exemplar
Goldmann Visual Field - Right - 10/160 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Optical Coherence Tomography - Right - 10/160 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
OCT Stack
OCT Stack
Infrared Fundus Photograph - Right - 10/160 sc
Exemplar
Infrared Fundus Photograph - Left - 10/200 sc
Exemplar
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| AR Optic Neuropathy | ACO2 | Leu738Pro CTG>CCG | Ile82Thr ATT>ACT | AR |
Disease:
Gene:
Allele 1:
Leu738Pro CTG>CCG
Allele 2:
Ile82Thr ATT>ACT
Inheritance:
AR