Walsh & Hoyt: Presumed Autosomal-Recessive Chiasmal Optic Neuropathy

In 1999, Pomerantz and Lessell described a unique family in which all three siblings of one generation had incidentally noted bitemporal visual field defects and optic nerve pallor with retention of excellent visual acuity and no other neurologic or systemic symptoms or signs. Tests for the primary mtDNA mutations associated with LHON were negative. Of note, two maternal uncles had died in their early teens form a neurologic disease characterized initially by stuttering and loss of balance, progressing to bed confinement and aphasia. Examinations of the parents and children of the siblings were normal. The authors proposed an autosomal-recessively inherited chiasmal optic neuropathy, but a mitochondrial disorder is also possible