Assessment of visual acuity in various genetic variants of hereditary optic neuropathies

Relevance Prediction of VA recovery in hereditary optic neuropathies (HON) depending on the nucleotide variant is an important aspect of disease progression assessment [1–4]. Objective To evaluate the final VA in various genetic variants of HON. Material and methods The study included 165 eyes diagnosed with HON caused by one of three mtDNA mutations: m.11778G>A (group 1); m.3460G>A (group 2); m.14484T>C (group 3) and with ARON (group 4) with c.152A>G nDNA mutations. Results A final VA of 0.5 and higher was detected with m.14484T>C (72%) and c.152A>G (64%) mutations; in 14 and 5% in groups 1 and 2. VA 0.1 and lower with mutations m.11778G>A (79%) and m.3460G>A (68%); in groups 3 and 4 in 19 and 14% of eyes, respectively. In groups 1 and 2, VA 1.0 was not detected, in groups 3 and 4 – in 27 and 36%, respectively. Conclusion The course of NON with mutations c.152A>G and m.14484T>C is more favorable. Keywords: mitochondrial optic neuropathies