Vinkler Chana, Lev Dorit, Kalish Hadas, Watemberg Nathan, Yanoov-Sharav Miri, Leshinsky-Silver Esther, Lerman-Sagie Tally
Institute of Clinical Genetics, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel.
Am J Med Genet A. 2003 Sep 1;121A(3):263-5. doi: 10.1002/ajmg.a.20238.
We report two brothers who suffer from infantile onset optic atrophy and blindness. MRI of the brain demonstrated periventricular white matter changes in both children. Neurological and developmental examination are normal. Extensive laboratory investigations rule out metabolic disorders that can be associated with optic atrophy. No mutations associated with Leber hereditary optic neuropathy (LHON) were found and sequencing of the mitochondrially encoded complex 1 subunits was normal. We suggest that this family represents either an atypical variant of LHON with a yet undescribed mtDNA mutation or a new syndrome.
