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A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome.
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2
Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.
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3
A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2.
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A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.
Hum Mol Genet. 1995 Jul;4(7):1213-6. doi: 10.1093/hmg/4.7.1213.
5
Linkage analysis in dominant optic atrophy.
Am J Hum Genet. 1983 Nov;35(6):1190-5.
6
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred.
J Med Genet. 1991 Jul;28(7):453-7. doi: 10.1136/jmg.28.7.453.
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Gene for non-specific X-linked mental retardation maps in the pericentromeric region.
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A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.
Am J Hum Genet. 1999 Apr;64(4):1141-6. doi: 10.1086/302324.
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Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.
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Linkage analysis of a large pedigree with hereditary sideroblastic anaemia.
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Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.
Invest Ophthalmol Vis Sci. 2023 Oct 3;64(13):17. doi: 10.1167/iovs.64.13.17.
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Ocular findings and genomics of X-linked recessive disorders: A review.
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Medical management of hereditary optic neuropathies.
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Instability in X chromosome inactivation patterns in AMD: a new risk factor?
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The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
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Dominant optic atrophy.
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Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.
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Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.
Hum Mol Genet. 2011 Feb 1;20(3):510-27. doi: 10.1093/hmg/ddq496. Epub 2010 Nov 15.
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The ERCC6 gene and age-related macular degeneration.
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[Hereditary optic atrophies].
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LEBER'S DISEASE IN THE NETHERLANDS.
Doc Ophthalmol. 1963;17:1-162. doi: 10.1007/BF00573524.
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No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers.
Hum Genet. 1996 Apr;97(4):500-5. doi: 10.1007/BF02267075.
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Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.
Hum Mol Genet. 1994 Jun;3(6):977-80. doi: 10.1093/hmg/3.6.977.
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Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation.
Eye (Lond). 1995;9 ( Pt 4):513-6. doi: 10.1038/eye.1995.117.
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GAPO syndrome: report of three affected brothers.
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Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy. A new syndrome.
Ophthalmology. 1984 Aug;91(8):908-15. doi: 10.1016/s0161-6420(84)34214-2.
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Familial opticoacoustic nerve degeneration and polyneuropathy.
Neurology. 1967 Sep;17(9):827-32. doi: 10.1212/wnl.17.9.827.
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Four families with the dominant infantile form of optic nerve atrophy.
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Dominant optic nerve atrophy with progressive hearing loss and chronic progressive external ophthalmoplegia (CPEO).
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