Purpose: In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber's hereditary optic neuropathy (LHON) patients. We present a case of a young child with ADOA with a confirmed OPA1 mutation who appeared to have had an acute visual loss in the third year of life.
Methods: Differentiating between ADOA and LHON requires careful documentation of visual symptoms, family history, clinical examination and genetic testing if available.
Conclusions: This clarifies the clinical diagnosis, ensuring appropriate genetic counselling is provided so that affected individuals are accurately informed on inheritance patterns and implications for family members.