Case
SR2378
Student Mode
Leber Hereditary Optic Neuropathy (IIIC1c)
Female
Female
Hidden
SR2378
Student Mode
Leber Hereditary Optic Neuropathy (IIIC1c)
Female
Female
Visit at age: 20 years
Fundus Photography - Right - Count Fingers 3'
Exemplar
Fundus Photography - Left - 20/200 sc
Exemplar
Goldmann Visual Field - Right - Count Fingers 3'
Exemplar
Goldmann Visual Field - Left - 20/200 sc
Exemplar
Visit at age: 20 years (Visit 2)
Goldmann Visual Field - Right - Hand Motion
Exemplar
Goldmann Visual Field - Left - Count Fingers 5'
Exemplar
Visit at age: 20 years (Visit 3)
Goldmann Visual Field - Right - 5/700 sc
Exemplar
Goldmann Visual Field - Left - 5/225 sc
Exemplar
Visit at age: 21 years
Fundus Photography - Right - Hand Motion
Exemplar
Fundus Photography - Left - 20/300 sc
Exemplar
Goldmann Visual Field - Right - Hand Motion
Exemplar
Goldmann Visual Field - Left - 20/300 sc
Exemplar
Visit at age: 22 years
Goldmann Visual Field - Right - 20/500 sc
Exemplar
Goldmann Visual Field - Left - 20/400 sc
Exemplar
Visit at age: 24 years
Goldmann Visual Field - Right - 20/400 sc
Exemplar
Goldmann Visual Field - Left - 20/400 sc
Exemplar
Visit at age: 29 years
Fundus Photography - Right - 20/500 sc
Exemplar
Fundus Photography - Left - 20/500 sc
Exemplar
Goldmann Visual Field - Right - 20/500 sc
Exemplar
Goldmann Visual Field - Left - 20/500 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-ND1 | 3460 G>A | MT |
Disease:
Gene:
Allele 1:
3460 G>A
Allele 2:
Inheritance:
MT