Case
SR22
Student Mode
Leber Hereditary Optic Neuropathy (IIIC1c)
Male
Male
Hidden
SR22
Student Mode
Leber Hereditary Optic Neuropathy (IIIC1c)
Male
Male
Visit at age: 17 years
Fundus Photography - Right - 20/160 +2 sc
Exemplar
Fundus Photography - Left - 10/200 sc
Exemplar
Goldmann Visual Field - Right - 20/160 +2 sc
Exemplar
Goldmann Visual Field - Left - 10/200 sc
Exemplar
Optical Coherence Tomography - Right - 20/160 +2 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 10/200 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 20/160 +2 sc
Exemplar
Infrared Fundus Photograph - Left - 10/200 sc
Exemplar
Visit at age: 17 years (Visit 2)
Fundus Photography - Right - 5/350 sc
Exemplar
Fundus Photography - Left - 3/250 sc
Exemplar
Goldmann Visual Field - Right - 5/350 sc
Exemplar
Goldmann Visual Field - Left - 3/250 sc
Exemplar
Optical Coherence Tomography - Right - 5/350 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 3/250 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 5/350 sc
Exemplar
Infrared Fundus Photograph - Left - 3/250 sc
Exemplar
Visit at age: 18 years
Fundus Photography - Right - 3/350 sc
Exemplar
Fundus Photography - Left - 3/300 sc
Exemplar
Goldmann Visual Field - Right - 3/350 sc
Exemplar
Goldmann Visual Field - Left - 3/300 sc
Exemplar
Optical Coherence Tomography - Right - 3/350 sc
Exemplar / OCT Stack
Optical Coherence Tomography - Left - 3/300 sc
Exemplar / OCT Stack
Infrared Fundus Photograph - Right - 3/350 sc
Exemplar
Infrared Fundus Photograph - Left - 3/300 sc
Exemplar
Visit at age: 19 years
Fundus Photography - Right - Count Fingers 1' sc
Exemplar
Fundus Photography - Left - Count Fingers 1' sc
Exemplar
Goldmann Visual Field - Right - Count Fingers 1' sc
Exemplar
Goldmann Visual Field - Left - Count Fingers 1' sc
Exemplar
Custom OCT - Right - Count Fingers 1' sc
Exemplar
Custom OCT - Left - Count Fingers 1' sc
Exemplar
Visit at age: 19 years (Visit 2)
Goldmann Visual Field - Right - Count Fingers 3' sc
Exemplar
Goldmann Visual Field - Left - Count Fingers 5' sc
Exemplar
Custom OCT - Right - Count Fingers 3' sc
Exemplar
Custom OCT - Left - Count Fingers 5' sc
Exemplar
Visit at age: 20 years
Goldmann Visual Field - Right - 5/600
Exemplar
Goldmann Visual Field - Left - 5/200
Exemplar
Custom OCT - Right - 5/600
Exemplar
Custom OCT - Left - 5/200
Exemplar
Visit at age: 25 years
Fundus Photography - Right - 10/700 sc
Exemplar
Fundus Photography - Left - 10/400 sc
Exemplar
Goldmann Visual Field - Right - 10/700 sc
Exemplar
Goldmann Visual Field - Left - 10/400 sc
Exemplar
Custom OCT - Right - 10/700 sc
Exemplar
Custom OCT - Left - 10/400 sc
Exemplar
Visit at age: 27 years
Fundus Photography - Right - 5/300 sc
Exemplar
Fundus Photography - Left - 5/200 sc
Exemplar
Goldmann Visual Field - Right - 5/300 sc
Exemplar
Goldmann Visual Field - Left - 5/200 sc
Exemplar
Custom OCT - Right - 5/300 sc
Exemplar
Custom OCT - Left - 5/200 sc
Exemplar
Case Level Images
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Leber Hereditary Optic Neuropathy | MT-ND4 | 11778 A>G | MT |
Disease:
Gene:
Allele 1:
11778 A>G
Allele 2:
Inheritance:
MT