A maculopathy associated with the 15257 mitochondrial DNA mutation

Area of Science:

• Ophthalmology
• Genetics
• Neuroscience

Background:

• Leber's hereditary optic neuropathy (LHON) is primarily associated with mitochondrial DNA mutations.
• The mutation at nucleotide position 15257 is a known cause of LHON.
• LHON typically presents with optic neuropathy.

Observation:

• Three patients with the 15257 mutation presented with acute, bilateral visual loss.
• Fundoscopic examination revealed retinal pigment epithelial changes in the maculae.
• Two patients were initially diagnosed with Stargardt's disease, and one with presumed maculopathy.

Findings:

• The 15257 mitochondrial DNA mutation was associated with macular changes in these patients.
• Two patients also showed evidence of concurrent optic neuropathy.
• This represents a previously unreported association of macular changes with the 15257 LHON mutation.

Implications:

• The 15257 mutation may cause maculopathy in addition to optic neuropathy.
• Some cases diagnosed as Stargardt's disease might be related to this mitochondrial DNA mutation.
• Molecular genetic testing is crucial for atypical optic and macular diseases.