Does acute loss of vision in autosomal dominant optic atrophy occur early in childhood
作者： Lisa S. Kearns , Michael Forrest , Amy C. Cohn , Amanda J. Churchill , David A Mackey
DOI: 10.3109/13816810903479842
关键词:
摘要: Purpose: In contrast to Autosomal dominant optic atrophy (ADOA), acute loss of vision is normally observed in Leber’s hereditary neuropathy (LHON) patients. We present a case young child with ADOA confirmed OPA1 mutation who appeared have had an visual the third year life.Methods: Differentiating between and LHON requires careful documentation symptoms, family history, clinical examination genetic testing if available.Conclusions: This clarifies diagnosis, ensuring appropriate counselling provided so that affected individuals are accurately informed on inheritance patterns implications for members.
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