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Clinical Presentation

• Children with bilateral painless visual impairment, typically at 0.2-0.4, often noticed only in school age
• Autosomal-dominant inheritance, mutations in OPA1 (75%) and OPA3 (1%) genes
• Optic discs with pseudo-glaucomatous excavation (typically > 0.5 Cup-Disc Ratio), flat margins, temporally pale ¹
• OCT: papillomacular bundle with thinned RNFL
• Visual field: Central scotoma / centrocecal scotoma
• Tritanopia (blue-yellow color blindness)
• ADOA plus phenotype: additional symptoms such as hearing loss, polyneuropathy, myopathy, ataxia, CPEO
  • Typically, a more severe course, lower visual acuity

Diagnosis

• Genetic testing (OPA1, OPA3).

Treatment

• No established therapy: Coenzyme Q-10 (CoQ), Idebenone, supplements such as Vitamin B12, C, and Lutein.
• Avoid smoking and alcohol, no excessive sports (e.g., marathon).

Differential Diagnosis

• Leber’s hereditary optic neuropathy (LHON)

Sources

• Neuro-Ophthalmology with Dr. Andrew G. Lee – Dominant Optic Atrophy
• EyeWiki – Autosomal Dominant Optic Atrophy
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  • Contributor: Jesse Vislisel, MD; Photographer: Cindy Montague, CRA
• Inselspital Molekulargenetik Analysen