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Abstract
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.
ACKNOWLEDGMENTS
This work was supported by the Peggy and Leslie Cranbourne Foundation. David Mackey is a Pfizer Australia Senior research fellow. We are grateful to Lori Bonertz for her assistance with editing this manuscript. We would also like to thank the family for their ongoing participation and support.
Declaration of interest: The authors have no commercial interest or conflicts of interest in this publication.