Featured presenter:  Hannah L. Scanga, MS, CGC

Featured article:  Lenaers G et al. Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm. Brain 2023; 146(8): 3156-3161.  PMID: 37071596.

Recently, pathogenic variants in 4 nuclear genes have been identified in patients with Leber's Hereditary Optic Neuropathy (LHON).  Disease-causing variants in these genes have an autosomal recessive pattern rather than a mitochondrial/maternal pattern that was previously the only known inheritance pattern for LHON.

Learning Objectives

1. Recognize the ophthalmic features of LHON.

2. Assess pedigrees for signs of mitochondrial and autosomal recessive inheritance patterns.

3. Develop an appropriate plan for genetic testing for patients suspected to have a form of LHON.