ד"ר וינקלר, ד"ר לב, ד"ר קליש ומעבדתה של פרופ' טלי שגיא
Am J Med Genet A. 2003 Sep 1;121A(3):263-5.
Familial optic atrophy with white matter changes. Institute of Clinical Genetics, Metabolic-Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel. 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.