Recessive MECR pathogenic variants cause an LHON-like optic neuropathy

Conclusion
We report the first family with homozygous MECR variant causing an LHON-like optic neuropathy, which pairs the recent MCAT findings, reinforcing the impairment of mtFAS as novel pathogenic mechanism in LHON.

Source: Journal of Medical Genetics - December 21, 2023 Category: Genetics & Stem Cells Authors: Fiorini, C., Degiorgi, A., Cascavilla, M. L., Tropeano, C. V., La Morgia, C., Battista, M., Ormanbekova, D., Palombo, F., Carbonelli, M., Bandello, F., Carelli, V., Maresca, A., Barboni, P., Baruffini, E., Caporali, L. Tags: Open access Neurogenetics Source Type: research