omim.org

Online Mendelian Inheritance in Man (OMIM)

  • ️Tue Oct 24 2023
  1. Alexander, C., Votruba, M., Pesch, U. E. A., Thiselton, D. L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S. S., Wissinger, B. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nature Genet. 26: 211-215, 2000. [PubMed: 11017080] [Full Text: https://doi.org/10.1038/79944]

  2. Amati-Bonneau, P., Guichet, A., Olichon, A., Chevrollier, A., Viala, F., Miot, S., Ayuso, C., Odent, S., Arrouet, C., Verny, C., Calmels, M.-N., Simard, G., Belenguer, P., Wang, J., Puel, J.-L., Hamel, C., Malthiery, Y., Bonneau, D., Lenaers, G., Reynier, P. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann. Neurol. 58: 958-963, 2005. [PubMed: 16240368] [Full Text: https://doi.org/10.1002/ana.20681]

  3. Ban, T., Heymann, J. A. W., Song, Z., Hinshaw, J. E., Chan, D. C. OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation. Hum. Molec. Genet. 19: 2113-2122, 2010. [PubMed: 20185555] [Full Text: https://doi.org/10.1093/hmg/ddq088]

  4. Barboni, P., Carbonelli, M., Savini, G., Foscarini. B., Parisi, V., Valentino, M. L., Carta, A., De Negri, A., Sadun, F., Zeviani, M., Sadun, A. A., Schimpf, S., Wissinger, B., Carelli, V. OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. Ophthalmology 117: 1547-1553, 2010. [PubMed: 20417568] [Full Text: https://doi.org/10.1016/j.ophtha.2009.12.042]

  5. Barboni, P., Savini, G., Parisi, V., Carbonelli, M., La Morgia, C., Maresca, A., Sadun, F., De Negri, A. M., Carta, A., Sadun, A. A., Carelli, V. Retinal nerve fiber layer thickness in dominant optic atrophy. Ophthalmology 118: 2076-2080, 2011. [PubMed: 21621262] [Full Text: https://doi.org/10.1016/j.ophtha.2011.02.027]

  6. Bonneau, D., Souied, E., Gerber, S., Rozet, J.-M., D'Haens, E., Journel, H., Plessis, G., Weissenbach, J., Munnich, A., Kaplan, J. No evidence of genetic heterogeneity in dominant optic atrophy. J. Med. Genet. 32: 951-953, 1995. [PubMed: 8825922] [Full Text: https://doi.org/10.1136/jmg.32.12.951]

  7. Brodrick, J. D. Hereditary optic atrophy with onset in early childhood. Brit. J. Ophthal. 58: 817-822, 1974. [PubMed: 4433496] [Full Text: https://doi.org/10.1136/bjo.58.9.817]

  8. Brown, J., Jr., Fingert, J. H., Taylor, C. M., Lake, M., Sheffield, V. C., Stone, E. M. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch. Ophthal. 115: 95-99, 1997. Note: Erratum: Arch. Ophthal. 115: 663 only, 1997. [PubMed: 9006432] [Full Text: https://doi.org/10.1001/archopht.1997.01100150097016]

  9. Caldwell, J. B. H., Howard, R. O., Riggs, L. A. Dominant juvenile optic atrophy. A study of two families and review of hereditary disease in childhood. Arch. Ophthal. 85: 133-147, 1971. [PubMed: 5545713] [Full Text: https://doi.org/10.1001/archopht.1971.00990050135004]

  10. Chen, A. S., Kovach, M. J., Herman, K., Avakian, A., Frank, W., Forrester, S., Lin, J.-P., Kimonis, V. Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families. Genet. Med. 2: 283-289, 2000. [PubMed: 11399209] [Full Text: https://doi.org/10.1097/00125817-200009000-00003]

  11. Chevrollier, A., Guillet, V., Loiseau, D., Gueguen, N., de Crescenzo, M.-A. P., Verny, C., Ferre, M., Dollfus, H., Odent, S., Milea, D., Goizet, C., Amati-Bonneau, P., Procaccio, V., Bonneau, D., Reynier, P. Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann. Neurol. 63: 794-798, 2008. [PubMed: 18496845] [Full Text: https://doi.org/10.1002/ana.21385]

  12. Cohn, A. C., Toomes, C., Potter, C., Towns, K. V., Hewitt, A. W., Inglehearn, C. F., Craig, J. E., Mackey, D. A. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am. J. Ophthal. 143: 656-662, 2007. [PubMed: 17306754] [Full Text: https://doi.org/10.1016/j.ajo.2006.12.038]

  13. Davies, V. J., Hollins, A. J., Piechota, M. J., Yip, W., Davies, J. R., White, K. E., Nicols, P. P., Boulton, M. E., Votruba, M. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Hum. Molec. Genet. 16: 1307-1318, 2007. [PubMed: 17428816] [Full Text: https://doi.org/10.1093/hmg/ddm079]

  14. Delettre, C., Lenaers, G., Griffoin, J.-M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc-Carel, C., Perret, E., Astarie-Dequeker, C., Lasquellec, L., Arnaud, B., Ducommun, B., Kaplan, J., Hamel, C. P. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nature Genet. 26: 207-210, 2000. [PubMed: 11017079] [Full Text: https://doi.org/10.1038/79936]

  15. Eiberg, H., Kjer, B., Kjer, P., Rosenberg, T. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum. Molec. Genet. 3: 977-980, 1994. [PubMed: 7951248] [Full Text: https://doi.org/10.1093/hmg/3.6.977]

  16. Epstein, R., Davisson, M. T., Lehmann, K., Akeson, E. C., Cohn, M. Position of Igl-1, md, and Bst loci on chromosome 16 of the mouse. Immunogenetics 23: 78-83, 1986. [PubMed: 3082752] [Full Text: https://doi.org/10.1007/BF00377965]

  17. Fournier, A. V., Damji, K. F., Epstein, D. L., Pollock, S. C. Disc excavation in dominant optic atrophy. Ophthalmology 108: 1595-1602, 2001. [PubMed: 11535456] [Full Text: https://doi.org/10.1016/s0161-6420(01)00696-0]

  18. Fuhrmann, N., Alavi, M. V., Bitoun, P., Woernle, S., Auburger, G., Leo-Kottler, B., Yu-Wai-Man, P., Chinnery, P., Wissinger, B. Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy. J. Med. Genet. 46: 136-144, 2009. [PubMed: 19181907] [Full Text: https://doi.org/10.1136/jmg.2008.062570]

  19. Iverson, H. A. Hereditary optic atrophy. AMA Arch. Ophthal. 59: 850-853, 1958. [PubMed: 13532092] [Full Text: https://doi.org/10.1001/archopht.1958.00940070064006]

  20. Johnston, P. B., Gaster, R. N., Smith, V. C., Tripathi, R. C. A clinicopathologic study of autosomal dominant optic atrophy. Am. J. Ophthal. 88: 868-875, 1979. [PubMed: 315716] [Full Text: https://doi.org/10.1016/0002-9394(79)90565-8]

  21. Johnston, R. L., Burdon, M. A., Spalton, D. J., Bryant, S. P., Behnam, J. T., Seller, M. J. Dominant optic atrophy, Kjer type: linkage analysis and clinical features in a large British pedigree. Arch. Ophthal. 115: 100-103, 1997. Note: Erratum: Arch. Ophthal. 115: 681 only, 1997. [PubMed: 9006433] [Full Text: https://doi.org/10.1001/archopht.1997.01100150102017]

  22. Johnston, R. L., Seller, M. J., Behnam, J. T., Burdon, M. A., Spalton, D. J. Dominant optic atrophy: refining the clinical diagnostic criteria in light of genetic linkage studies. Ophthalmology 106: 123-128, 1999. [PubMed: 9917792] [Full Text: https://doi.org/10.1016/S0161-6420(99)90013-1]

  23. Kim, J. Y., Hwang, J.-M., Ko, H. S., Seong, M.-W., Park, B.-J., Park, S. S. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Neurology 64: 966-972, 2005. [PubMed: 15781809] [Full Text: https://doi.org/10.1212/01.WNL.0000157282.76715.B1]

  24. Kivlin, J. D., Lovrien, E. W., Bishop, D. T., Maumenee, I. H. Linkage analysis in dominant optic atrophy. Am. J. Hum. Genet. 35: 1190-1195, 1983. [PubMed: 6580816]

  25. Kjer, P. Infantile Optic Atrophy with Dominant Mode of Inheritance. Copenhagen: Bogtrykkeriet Forum (pub.) 1959.

  26. Lodi, R., Tonon, C., Valentino, M. L., Iotti, S., Clementi, V., Malucelli, E., Barboni, P., Longanesi, L., Schimpf, S., Wissinger, B., Baruzzi, A., Barbiroli, B., Carelli, V. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann. Neurol. 56: 719-723, 2004. [PubMed: 15505825] [Full Text: https://doi.org/10.1002/ana.20278]

  27. Lodi, R., Tonon, C., Valentino, M. L., Manners, D., Testa, C., Malucelli, E., La Morgia, C., Barboni, P., Carbonelli, M., Schimpf, S., Wissinger, B., Zeviani, M., Baruzzi, A., Liguori, R., Barbiroli, B., Carelli, V. Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Arch. Neurol. 68: 67-73, 2011. [PubMed: 20837821] [Full Text: https://doi.org/10.1001/archneurol.2010.228]

  28. Lunkes, A., Hartung, U., Magarino, C., Rodriguez, M., Palmero, A., Rodriguez, L., Heredero, L., Weissenbach, J., Weber, J., Auburger, G. Refinement of the OPA1 gene locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer. (Letter) Am. J. Hum. Genet. 57: 968-970, 1995. [PubMed: 7573062]

  29. Payne, M., Yang, Z., Katz, B. J., Warner, J. E. A., Weight, C. J., Zhao, Y., Pearson, E. D., Treft, R. L., Hillman, T., Kennedy, R. J., Meire, F. M., Zhang, K. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am. J. Ophthal. 138: 749-755, 2004. [PubMed: 15531309] [Full Text: https://doi.org/10.1016/j.ajo.2004.06.011]

  30. Rice, D. S., Williams, R. W., Davisson, M. T., Harris, B., Goldowitz, D. A new mutant phenotype of retinal ganglion cell dysgenesis discovered in the mouse. (Abstract) Soc. Neurosci. Abst. 19: 51, 1993.

  31. Rice, D. S., Williams, R. W., Ward-Bailey, P., Johnson, K. R., Harris, B. S., Davisson, M. T., Goldowitz, D. Mapping the Bst mutation on mouse chromosome 16: a model for human optic atrophy. Mammalian Genome 6: 546-548, 1995. [PubMed: 8589526] [Full Text: https://doi.org/10.1007/BF00356174]

  32. Seller, M. J., Behnam, J. T., Lewis, C. M., Johnston, R. L., Burdon, M. A., Spalton, D. J. Linkage studies in dominant optic atrophy, Kjer type: possible evidence for heterogeneity. J. Med. Genet. 34: 967-972, 1997. [PubMed: 9429135] [Full Text: https://doi.org/10.1136/jmg.34.12.967]

  33. Smith, D. P. Diagnostic criteria in dominantly inherited juvenile optic atrophy: report of three new families. Am. J. Optom. Arch. Am. Acad. Optom. 49: 183-200, 1972. [PubMed: 4502353] [Full Text: https://doi.org/10.1097/00006324-197203000-00001]

  34. Smith, R. S., John, S. W. M., Zabeleta, A., Davisson, M. T., Hawes, N. L., Chang, B. The Bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization. Proc. Nat. Acad. Sci. 97: 2191-2195, 2000. [PubMed: 10681427] [Full Text: https://doi.org/10.1073/pnas.040531597]

  35. Snell, S. Diseases of the optic nerve. I. Hereditary or congenital optic atrophy and allied cases. Trans. Ophthal. Soc. U.K. 17: 66-81, 1897.

  36. Stendahl-Brodin, L., Moller, E., Link, H. Hereditary optic atrophy with probable association with a specific HLA haplotype. J. Neurol. Sci. 38: 11-21, 1978. [PubMed: 151734] [Full Text: https://doi.org/10.1016/0022-510x(78)90241-1]

  37. Votruba, M., Fitzke, F. W., Holder, G. E., Carter, A., Bhattacharya, S. S., Moore, A. T. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch. Ophthal. 116: 351-358, 1998. [PubMed: 9514489] [Full Text: https://doi.org/10.1001/archopht.116.3.351]

  38. Votruba, M., Moore, A. T., Bhattacharya, S. S. Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. J. Med. Genet. 34: 117-121, 1997. [PubMed: 9039986] [Full Text: https://doi.org/10.1136/jmg.34.2.117]

  39. Votruba, M., Moore, A. T., Bhattacharya, S. S. Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method: a study of 38 British Isles pedigrees. Hum. Genet. 102: 79-86, 1998. [PubMed: 9490303] [Full Text: https://doi.org/10.1007/s004390050657]

  40. Votruba, M., Payne, A., Moore, A. T., Bhattacharya, S. S. Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. Mammalian Genome 9: 784-787, 1998. [PubMed: 9745030] [Full Text: https://doi.org/10.1007/s003359900867]

  41. Yu-Wai-Man, P., Griffiths, P. G., Burke, A., Sellar, P. W., Clarke, M. P., Gnanaraj, L., Ah-Kine, D., Hudson, G., Czermin, B., Taylor, R. W., Horvath, R., Chinnery, P. F. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology 117: 1538-1546, 2010. [PubMed: 20417570] [Full Text: https://doi.org/10.1016/j.ophtha.2009.12.038]

  42. Yu-Wai-Man, P., Griffiths, P. G., Gorman, G. S., Lourenco, C. M., Wright, A. F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M. L., Caporali, L., Lamperti, C., Tallaksen, C. M., and 24 others. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133: 771-786, 2010. [PubMed: 20157015] [Full Text: https://doi.org/10.1093/brain/awq007]

  43. Yu-Wai-Man, P., Griffiths, P. G., Hudson, G., Chinnery, P. F. Inherited mitochondrial optic neuropathies. J. Med. Genet. 46: 145-158, 2009. Note: Erratum: J. Med. Genet. 48: 284 only, 2011. [PubMed: 19001017] [Full Text: https://doi.org/10.1136/jmg.2007.054270]

  44. Yu-Wai-Man, P., Sitarz, K. S., Samuels, D. C., Griffiths, P. G., Reeve, A. K., Bindoff, L. A., Horvath, R., Chinnery, P. F. OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules. Hum. Molec. Genet. 19: 3043-3052, 2010. [PubMed: 20484224] [Full Text: https://doi.org/10.1093/hmg/ddq209]