ADENOSINE-TRIPHOSPHATE DEFICIENCY - A GENRE OF OPTIC NEUROPATHY

Purpose: To offer clinical evidence that deficiency of vitamin B-12 ma y adversely affect the neuronal function of patients who also have the 14,484 mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy (LHON). Methods: A case of a 27-year-old man with vit amin B-12 deficiency and the 14,484 mitochondrial DNA mutation is pres ented and the literature on causes of some metabolic optic neuropathie s reviewed. Results: Visual loss and neurologic symptoms of vitamin B- 12 deficiency occurred together, at a time when the level of vitamin B -12 was subnormal. Vision and other sensory functions began to improve within 2 months of vitamin therapy, and normal vision eventually was restored. Conclusions: The relatively prompt improvement and the event ual complete recovery of vision following vitamin replacement therapy suggest that; the subnormal level of vitamin B-12 precipitated visual loss. Given the clinical similarities of subnormal vitamin B-12, LHON, and nutritional/tobacco amblyopia, deficiency of adenosine triphospha te might be a unifying etiology for several types of optic neuropathy. This energy hypothesis provides a theoretical basis for the enigmatic phenomena of centrocecal scotomata and recovery of visual function af ter prolonged blindness.