SR2378

Leber Hereditary Optic Neuropathy (IIIC1c)

Female

Female

SR2378

Leber Hereditary Optic Neuropathy (IIIC1c)

Female

Female

Highlighted Images

Age at visit: 20 years
OD OS

History

This 20 year old woman had normal vision until 3 months ago, when she was involved in an automobile accident. Her vision was normal right after the accident, but the acuity in both eyes (right greater than left) gradually fell over the ensuing three months.

Pedigree

Age at visit: 20 years
Age at visit: 20 years (Visit 2)
Age at visit: 20 years (Visit 3)
Age at visit: 21 years
Age at visit: 22 years
Age at visit: 24 years
Age at visit: 29 years

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
Gene:
Allele 1:
3460 G>A
Allele 2:
 
Inheritance:
MT
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