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How Leber’s Hereditary Optic Neuropathy Diagnosis Works | idebenone.org The process for a Leber’s hereditary optic neuropathy diagnosis includes targeted testing, clinical observation, and genetic confirmation. LHON is a mitochondrial disorder that leads to rapid central vision loss, usually in young adults. Since its symptoms resemble other optic nerve diseases, careful diagnostic steps are essential to differentiate LHON from similar conditions. Initial evaluation begins with a detailed medical history and symptom discussion. Because LHON can affect family members across generations, history of sudden visual disturbances or visual impairment in maternal relatives increases suspicion. Following this, visual acuity tests assess the level of vision loss, often revealing central vision impairment — a hallmark of LHON. Eye doctors might also use color vision tests since patients frequently report difficulty distinguishing colors. Next, fundus examination — inspection of the retina and optic nerve — may reveal subtle early changes. In the initial stages, the optic nerve can appear swollen or hyperemic, progressing later to optic atrophy. This physical evaluation helps rule out other causes like optic neuritis or ischemic optic neuropathy. Optical coherence tomography (OCT) is another valuable diagnostic tool for LHON. OCT scans map the retina’s microscopic layers, showing thinning of the retinal nerve fiber layer. This structural insight supports diagnosis when combined with clinical findings. Additionally, visual field testing identifies scotomas or blind spots in the central visual field common in LHON patients. While clinical data are crucial, genetic testing remains the gold standard for diagnosing LHON. Over 95% of LHON cases are linked to three mitochondrial DNA mutations. Laboratories analyze a blood or saliva sample to detect these mutations, confirming the diagnosis. Positive genetic results also allow family members to be tested, providing important information for carrier status and counseling. A definitive diagnosis opens doors to treatment and management. One of the most researched therapies is idebenone, a synthetic analog of coenzyme Q10. Evidence suggests idebenone may support mitochondrial energy production and help stabilize or improve visual function in some individuals with LHON, especially when started early. Visit us: https://idebenone.org/

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