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International Foundation for Optic Nerve Disease

P. O. Box 777, Cornwall NY 12518, USA
Email: IFOND@aol.com
Phone [g voice]: 6572067250

 

 ^ Hallervorden-Spatz syndrome Pantothenate kinase-associated neurodegeneration. Neurodegeneration with Brain Iron Accumulation 1. Hereditary disease of children. Features include generalized dystonia with predominance of oromandibular involvement, behavioral changes followed by dementia, and retinal degeneration in some cases optic atrophy.

OMIM 234200

Wikipedia

 ^ Haplogroup A group of similar haplotypes that share a common ancestor with a single nucleotide polymorphism (SNP) mutation. Certain polymorphisms specific to haplogroup J have been associated with Leber's hereditary optic neuropathy. Furthermore, clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.

Hudson G, Carelli V, et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet. 2007 Aug;81(2):228-33.PMID 17668373 PubMed central free full text

Wikipedia Haplogroup

Wikipedia Haplogroup J

 ^ Haplotype An association of secondary mutations with the primary mutation in prevalence higher than normal. e.g.Johns and Berman in 1991 showed the frequency of mtDNA mutations at nucleotides 4216 and 13708 were associated more often with 11778 LHON patients than with normal controls.

Johns DR, Berman J (1991) Alternative simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 174:1324 PMID 1900003

Wikipedia HapMap project

Wikipedia Haplotype

 ^ Heteroplasmy When different cells in an organism may have different mutations of a gene. cf Homoplasmy.

Wikipedia

 ^ HIV (Human Immune deficiency Virus) Retro virus responsible for the Acquired Immune Deficiency Syndrome. Visual field defects consistent with optic nerve disease can occur in HIV infection. see AIDS

 ^ Homoplasmy Where all cells in an organism have the same gene mutation or allele. cf Heteroplasmy.

Wikipedia

 ^ Hormone

Wikipedia

 ^ Horizontal Cell

Wikipedia

 ^ Hyperpolarization

Wikipedia

 ^ Hypoplasia, Optic Nerve or Optic Nerve Aplasia

Wikipedia

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The International Foundation for Optic Nerve Disease
P. O. Box 777, Cornwall NY 12518, USA.
Phone [g voice]: 6572067250
Email: ifond@aol.com
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