Case
SR22
Student Mode
Leber Hereditary Optic Neuropathy (IIIC1c)
Male
Male
Hidden
SR22
Student Mode
Leber Hereditary Optic Neuropathy (IIIC1c)
Male
Male
Highlighted Images
| Age at visit: 17 years | OD | OS |
|---|---|
History
This 17 year old male had normal vision until about 6 months earlier when he began to lose central vision. The left eye may have been affected prior to the right eye.
Pedigree
| Age at visit: 17 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 17 years (Visit 2) |
| Age at visit: 18 years |
| Age at visit: 19 years |
| Age at visit: 19 years (Visit 2) |
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