hydroxocobalamin and Optic-Nerve-Diseases

To explore the ocular manifestations of cobalamin C (cblC) deficiency, an inborn error of intracellular vitamin B12 metabolism.. Retrospective, observational case series.. Twenty-five cblC patients underwent clinical and ophthalmic examination at the National Institutes of Health between August 2004 and September 2012. Patient ages ranged from 2 to 27 years at last ophthalmic visit, and follow-up ranged from 0 to 83 months (median, 37 months; range, 13-83 months) over a total of 69 visits.. Best-corrected visual acuity, slit-lamp biomicroscopy, dilated fundus examination, wide-field photography, fundus autofluorescence imaging, sedated electroretinography, optical coherence tomography, genetics and metabolite assessment.. Visual acuity and presence and degree of retinal degeneration and optic nerve pallor.. Nystagmus (64%), strabismus (52%), macular degeneration (72%), optic nerve pallor (68%), and vascular changes (64%) were present. c.271dupA (p.R91KfsX14) homozygous patients (n = 14) showed early and extensive macular degeneration. Electroretinography showed that scotopic and photopic responses were reduced and delayed, but were preserved remarkably in some patients despite severe degeneration. Optical coherence tomography images through the central macular lesion of a patient with severe retinal degeneration showed extreme thinning, some preservation of retinal lamination, and nearly complete loss of the outer nuclear layer. Despite hyperhomocysteinemia, no patients exhibited lens dislocation.. This longitudinal study reports ocular outcomes in the largest group of patients with cblC deficiency systematically examined at a single center over an extended period. Differences in progression and severity of macular degeneration, optic nerve pallor, and vascular attenuation between homozygous c.271dupA (p.R91KfsX14) patients and compound heterozygotes were noted. The pace and chronicity of ophthalmic manifestations lacked strict correlation to metabolic status as measured during visits. Prenatal or early treatment, or both, may have mitigated ocular disease, leading to better functional acuity, but patients still progressed to severe macular degeneration. The effects of prenatal or early treatment, or both, in siblings; the manifestation of severe disease in infancy; the presence of comorbid developmental abnormalities; and the possible laminar structural defect noted in many patients are findings showing that cblC deficiency displays a developmental as well as a degenerative ocular phenotype.

Topics: Adolescent; Adult; Carrier Proteins; Child; Child, Preschool; Disease Progression; Electroretinography; Follow-Up Studies; Homocystinuria; Humans; Hydroxocobalamin; Injections, Intramuscular; Macular Degeneration; Nystagmus, Pathologic; Optic Nerve Diseases; Optical Imaging; Oxidoreductases; Phenotype; Retrospective Studies; Strabismus; Tomography, Optical Coherence; Visual Acuity; Vitamin B 12 Deficiency; Vitamin B Complex

Tobacco amblyopia, once an important cause of bilateral optic neuropathy, has become so rare in the United States that some investigators doubt its existence. However, we treated two men who appeared to have this disorder. These two patients demonstrate that tobacco amblyopia can develop without malnutrition, alcoholism, or disordered vitamin B12 metabolism. Both patients recovered, one with cessation of smoking and the other with intramuscular administration of hydroxocobalamin despite continued smoking.

Topics: Adult; Aged; Amblyopia; Humans; Hydroxocobalamin; Injections, Intramuscular; Male; Optic Nerve Diseases; Smoking; Smoking Cessation; Vision Disorders; Visual Acuity; Visual Fields

Topics: Ethambutol; Humans; Hydroxocobalamin; Optic Nerve Diseases

The concentrations of vitamin B12 in the sera from 77 patients diagnosed as suffering from the toxic optic neuropathy associated with tobacco smoking were compared with control levels and with serum folic acid concentrations from the same patients. Of these, 17 patients had associated pernicious anaemia. Serum vitamin B12 levels were significantly lower, whereas the folic acid concentrations showed great variation. Folic acid levels in the serum tended to be high when the vitamin B12 level was low (r = 0.29). The results suggest that the role of folic acid in the genesis of the optic neuropathy is not marked. However persistently low levels of folic acid occurred in one subject and significant clinical improvement resulted only from specific therapy.

Topics: Adult; Aged; Anemia, Pernicious; Female; Folic Acid; Folic Acid Deficiency; Humans; Hydroxocobalamin; Male; Middle Aged; Optic Nerve Diseases; Smoking; Visual Acuity; Vitamin B 12; Vitamin B 12 Deficiency

A 17-year-old boy with vitamin B12 deficiency that occurred after a small bowel resection developed bilateral centrocecal scotomas during folic acid therapy and improved on therapy including vitamin B complex.

Topics: Adolescent; Folic Acid; Gangrene; Humans; Hydroxocobalamin; Infectious Mononucleosis; Intestine, Small; Malabsorption Syndromes; Male; Optic Nerve Diseases; Postoperative Complications; Scotoma; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Animals; Guinea Pigs; Humans; Hydroxocobalamin; Optic Atrophy; Optic Nerve Diseases; Optic Neuritis; Rabbits; Rats