leber's hereditary optic neuropathy

How is LHON Diagnosed in Pediatric Patients?

Diagnosis of LHON involves a combination of clinical evaluation and genetic testing. The following steps are typically taken:
Ophthalmologic examination: A dilated eye exam and visual acuity tests are performed to assess the extent of vision loss.
Genetic testing: Blood samples are analyzed for specific mitochondrial DNA mutations commonly associated with LHON.
Family history analysis: A detailed family history is gathered to identify any patterns of inherited vision loss.

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