Optic atrophies in metabolic disorders

Molecular Genetics and Metabolism

Volumn 86, Issue 1-2, 2005, Pages 51-60

  Huizing, Marjan ^a   Brooks, Brian P ^a,b   Anikster, Yair ^c,d  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

^c SHEBA MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

Author keywords

Eye; Inborn error of metabolism; Myelination; Oligodendrocyte; Ophthalmology; Optic nerve pallor; Optic neuropathy; Reactive oxygen species; Retina; Retinal ganglion cell

Indexed keywords

AUTOSOMAL DOMINANT OPTIC ATROPHY; AUTOSOMAL DOMINANT OPTIC ATROPHY 4; AUTOSOMAL DOMINANT OPTIC ATROPHY 5; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE OPTIC ATROPHY; AUTOSOMAL RECESSIVE OPTIC ATROPHY 3; CATARACT; CLINICAL FEATURE; COSTEFF SYNDROME; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DISORDERS OF PEROXISOMAL FUNCTIONS; EARLY DIAGNOSIS; GENE FREQUENCY; GENETIC COUNSELING; HEREDITARY OPTIC ATROPHY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; LYSOSOME STORAGE DISEASE; METABOLIC DISORDER; MORBIDITY; OPTIC ATROPHY ATAXIA SYNDROME; OPTIC NERVE; PRIORITY JOURNAL; SHORT SURVEY; SYMPTOM; TREATMENT PLANNING; WOLFRAM SYNDROME; X CHROMOSOME LINKED DISORDER; X LINKED OPTIC ATROPHY 2;

ATAXIA;

EID: 26244455956     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.07.034     Document Type: Review

References (102)

1. C.A. Fredericks, R.A. Giolli, R.H. Blanks, and A.A. Sadun The human accessory optic system Brain Res. 454 1988 116 122
2. S. Lessel J.T.W. van Dalen Neuro-ophthalmology vol. 2 1982 Elsevier New York
3. N.R. Miller, N.J. Newman, Clinical Neuro-Ophthalmology, 5th ed., The Optic Nerve, Williams & Wilkins, Baltimore, 1998, pp. 487-823.
4. J.S. Glaser, and A.A. Sadun Anatomy of the visual sensory system J.S. Glaser Neuro-ophthalmology 1990 J.B. Lippincott Co. Philadelphia 61 82
5. E.I. Traboulsi Genetic Diseases of the Eye 1998 Oxford University Press New York
6. V. Carelli, F.N. Ross-Cisneros, and A.A. Sadun Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies Neurochem. Int. 40 2002 573 584
7. N.J. Newman, and V. Biousse Hereditary optic neuropathies Eye 18 2004 1144 1160
8. M. Votruba Molecular genetic basis of primary inherited optic neuropathies Eye 18 2004 1126 1132
9. T. Costa, C.R. Scriver, and B. Childs The effect of Mendelian disease on human health: a measurement Am. J. Med. Genet. 21 1985 231 242
10. A. Al-Khaier, and K.K. Nischal The eye in metabolic disease Hosp. Med. 64 2003 609 612
11. P.Y. Man, D.M. Turnbull, and P.F. Chinnery Leber hereditary optic neuropathy J. Med. Genet. 39 2002 162 169
12. N. Howell Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve Vision Res. 37 1997 3495 3507
13. S.J. Folz, and J.D. Trobe The peroxisome and the eye Surv. Opthalmol. 35 1991 353 368
14. R.O. Brady Ophthalmologic aspects of lipid storage diseases Ophthalmology 85 1978 1007 1013
15. M.L. Collins, E.I. Traboulsi, and I.H. Maumenee Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses Ophthalmology 97 1990 1445 1449
16. R. Sorcinelli, A. Sitzia, and M. Loi Cherry-red spot, optic atrophy and corneal cloudings in a patient suffering from GM1 gangliosidosis type I Metab. Pediatr. Syst. Ophthalmol. 10 1987 62 63
17. M. Votruba, A.T. Moore, and S.S. Bhattacharya Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy J. Med. Genet. 35 1998 793 800
18. F. Barbet, S. Hakiki, C. Orssaud, S. Gerber, I. Perrault, S. Hanein, D. Ducroq, J.L. Dufier, A. Munnich, J. Kaplan, and J.M. Rozet A third locus for dominant optic atrophy on chromosome 22q J. Med. Genet. 42 2005 e1
19. H.U. Moller Recessively inherited, simple optic atrophy does it exist Ophthal. Paediatr. Genet. 13 1992 31 32
20. F. Barbet, S. Gerber, S. Hakiki, I. Perrault, S. Hanein, D. Ducroq, G. Tanguy, J.L. Dufier, A. Munnich, J.M. Rozet, and J. Kaplan A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q Eur. J. Hum. Genet. 11 2003 966 971
21. P.F. Chinnery, M.A. Johnson, T.M. Wardell, R. Singh-Kler, C. Hayes, D.T. Brown, R.W. Taylor, L.A. Bindoff, and D.M. Turnbull The epidemiology of pathogenic mitochondrial DNA mutations Ann. Neurol. 48 2000 188 193
22. M.D. Brown, I.A. Trounce, A.S. Jun, J.C. Allen, and D.C. Wallace Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778 or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation J. Biol. Chem. 275 2000 39831 39836
23. A. Wong, L. Cavelier, H.E. Collins-Schramm, M.F. Seldin, M. McGrogan, M.L. Savontaus, and G.A. Cortopassi Differentiation-specific effects of LHON mutations introduced into neural cells Hum. Mol. Genet. 11 2002 431 438
24. M. Votruba, F.W. Fitzke, G.E. Holder, A. Carter, S.S. Bhattacharya, and A.T. Moore Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy Arch. Ophthalmol. 116 1998 351 358
25. C. Alexander, M. Votruba, U.E.A. Pesch, D.L. Thiselton, S. Mayer, A. Moore, M. Rodriguez, U. Kellner, B. Leo-Kottler, G. Auburger, S.S. Bhattacharya, and B. Wissinger OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 Nat. Genet. 26 2000 211 215
26. C. Delettre, G. Lenaers, J.M. Griffoin, N. Gigarel, C. Lorenzo, P. Belenguer, L. Pelloquin, J. Grosgeorge, C. Turc-Carel, E. Perret, C. Astarie-Dequeker, L. Lasquellec, B. Arnaud, B. Ducommun, J. Kaplan, and C.P. Hamel Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy Nat. Genet. 26 2000 207 210
27. A. Olichon, L. Baricault, N. Gas, E. Guillou, A. Valette, P. Belenguer, and G. Lenaers Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis J. Biol. Chem. 278 2003 7743 7746
28. L. Griparic, N.N. van der Wel, I.J. Orozco, P.J. Peters, and A.M. van der Bliek Loss of the intermembrane space protein Mgm1/OPA1 induces swelling and localized constrictions along the lengths of mitochondria J. Biol. Chem. 279 2004 18792 18798
29. R. Garcin, P. Raverdy, S. Delthil, H.X. Man, and H. Chimenes Sur une affection heredo-familiale associant cataracte, atrophie optique, signes extra-pyramidaux et certains stigmates de la maladie de Friedreich. (Sa position nosologique par rapport au syndrome de Behr, au syndrome de Marinesco-Sjogren et a la maladie de Friedreich avec signes oculaires) Rev. Neurol. 104 1961 373 379
30. C. Verny, P. Amati-Bonneau, F. Dubas, Y. Malthiery, P. Reynier, and D. Bonneau An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs Rev. Neurol. (Paris) 161 2005 451 452
31. Y. Anikster, R. Kleta, A. Shaag, W.A. Gahl, and O. Elpeleg Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews Am. J. Hum. Genet. 69 2001 1218 1224
32. P. Reynier, P. Amati-Bonneau, C. Verny, A. Olichon, G. Simard, A. Guichet, C. Bonnemains, F. Malecaze, M.C. Malinge, J.B. Pelletier, P. Calvas, H. Dollfus, P. Belenguer, Y. Malthiery, G. Lenaers, and D. Bonneau OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract J. Med. Genet. 41 2004 e110
33. H. Costeff, O. Elpeleg, N. Apter, P. Divry, and N. Gadoth 3-Methylglutaconic aciduria in "optic atrophy plus Ann. Neurol. 33 1993 103 104
34. R. Kleta, F. Skovby, E. Christensen, T. Rosenberg, W.A. Gahl, and Y. Anikster 3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings Mol. Genet. Metab. 76 2002 201 206
35. J.B. Kerrison, V.J. Arnould, J.M. Ferraz Sallum, M.R. Vagefi, M.M. Barmada, Y. Li, D. Zhu, and I.H. Maumenee Genetic heterogeneity of dominant optic atrophy, Kjer type: identification of a second locus on chromosome 18q12.2-12.3 Arch. Ophthalmol. 117 1999 805 810
36. L.N. Went, E.C. De Vries-de Mol, and H.J. Volker-Dieben A family with apparently sex-linked optic atrophy J. Med. Genet. 12 1975 94 98
37. J.J.M. Assink, N.T. Tijmes, J.B. ten Brink, R.J. Oostra, F.C. Riemslag, P.T.V.M. de Jong, and A.A.B. Bergen A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome Am. J. Hum. Genet. 61 1997 934 939
38. S. Da Cruz, I. Xenarios, J. Langridge, F. Vilbois, P.A. Parone, and J.C. Martinou Proteomic analysis of the mouse liver mitochondrial inner membrane J. Biol. Chem. 278 2003 41566 41571
39. C. Behr Die komplizierte, hereditaer-familiaere Optikusatrophie des Kindesalters: ein bisher nicht beschriebener Symptomenkomplex Klin. Mbl. Augenheilk. 47 1909 138 160
40. T.G. Barrett, M. Scott-Brown, A. Seller, A. Bednarz, K. Poulton, and J. Poulton The mitochondrial genome in Wolfram syndrome J. Med. Genet. 37 2000 463 466
41. H. Inoue, Y. Tanizawa, J. Wasson, P. Behn, K. Kalidas, E. Bernal-Mizrachi, M. Mueckler, H. Marshall, H. Donis-Keller, P. Crock, D. Rogers, M. Mikuni, H. Kumashiro, K. Higashi, G. Sobue, Y. Oka, and M.A. Permutt A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) Nat. Genet. 20 1998 143 148
42. T.M. Strom, K. Hortnagel, S. Hofmann, F. Gekeler, C. Scharfe, W. Rabl, K.D. Gerbitz, and T. Meitinger Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein Hum. Mol. Genet. 7 1998 2021 2028
43. A.A. Osman, M. Saito, C. Makepeace, M.A. Permutt, P. Schlesinger, and M. Mueckler Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium J. Biol. Chem. 278 2003 52755 52762
44. K. Takeda, H. Inoue, Y. Tanizawa, Y. Matsuzaki, J. Oba, Y. Watanabe, K. Shinoda, and Y. Oka WFS1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain Hum. Mol. Genet. 10 2001 477 484
45. K. Ajlouni, N. Jarrah, M. El-Khateeb, M. El-Zaheri, H. El Shanti, and A. Lidral Wolfram syndrome: identification of a phenotypic and genotypic variant from Jordan Am. J. Med. Genet. 30 2002 61 65
46. J. Schmiedel, S. Jackson, J. Schafer, and H. Reichmann Mitochondrial cytopathies J. Neurol. 250 2003 267 277
47. G. Lenaz, A. Baracca, V. Carelli, M. D'Aurelio, G. Sgarbi, and G. Solaini Bioenergetics of mitochondrial diseases associated with mtDNA mutations Biochim. Biophys. Acta 1658 2004 89 94
48. V. Carelli, F.N. Ross-Cisneros, and A.A. Sadun Mitochondrial dysfunction as a cause of optic neuropathies Prog. Retin. Eye Res. 23 2004 53 89
49. R.J.A. Wanders Peroxisomes, lipid metabolism, and peroxisomal disorders Mol. Genet. Metab. 83 2004 16 27
50. P.T. Clayton Inborn errors of bile acid metabolism J. Inherit. Metab. Dis. 14 1991 478 496
51. L.M. Olivier, and S.K. Krisans Peroxisomal protein targeting and identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes Biochim. Biophys. Acta 1529 2000 89 102
52. S.J. Folz, and J.D. Trobe The peroxisome and the eye Surv. Ophthalmol. 35 1991 353 368
53. U. Brosius, and J. Gartner Cellular and molecular aspects of Zellweger syndrome and other peroxisome biogenesis disorders Cell. Mol. Life Sci. 59 2002 1058 1069
54. J.M. Powers Demyelination in peroxisomal diseases J. Neurol. Sci. 228 2005 206 207
55. H. Moser, P. Dubey, and A. Fatemi Progress in X-linked adrenoleukodystrophy Curr. Opin. Neurol. 17 2004 263 269
56. D. Pirulli, M. Marangella, and A. Amoroso Primary hyperoxaluria: genotype-phenotype correlation J. Nephrol. 16 2003 297 309
57. S.M. Cohen, W.R. Green, Z.C. de la Cruz, F.R. Brown, H.W. Moser, M.W. Luckenbach, D.J. Dove, and I.H. Maumenee Ocular histopathologic studies of neonatal and childhood adrenoleukodystrophy Am. J. Ophthalmol. 95 1983 82 96
58. E.F. Neufeld Lysosomal storage diseases Annu. Rev. Biochem. 60 1991 257 280
59. J. Francois Ocular manifestations of the mucopolysaccharidoses Ophthalmologica 169 1974 345 361
60. M.L. Collins, E.L. Traboulsi, and I.H. Maumenee Optic nerve head swelling and optic atrophy in the systemic mucopolysaccharidoses Ophthalmology 97 1990 1445 1449
61. L. Ginzburg, Y. Kacher, and A.H. Futerman The pathogenesis of glycosphingolipid storage disorders Semin. Cell. Dev. Biol. 15 2004 417 431
62. X. Zhang, and F.L. Kiechle Review: glycosphingolipids in health and disease Ann. Clin. Lab. Sci. 34 2004 3 13
63. L. Colombaioni, and M. Garcia-Gil Sphingolipid metabolites in neural signaling and function Brain Res. Rev. 46 2004 328 355
64. L.J. Cairns, W.R. Green, and H.S. Singer GM1 gangliosidosis, type 2: ocular clinicopathologic correlation Graefes Arch. Clin. Exp. Ophthalmol. 222 1984 51 62
65. D.G. Cogan, T. Kuwabara, E. Kolodny, and S. Driscoll Gangliosidoses and the fetal retina Ophthalmology 91 1984 508 512
66. M.M. McGovern, M.P. Wasserstein, A. Aron, R.J. Desnick, E.H. Schuchman, and S.E. Brodie Ocular manifestations of Niemann-Pick disease type B Ophthalmology 111 2004 1424 1427
67. J.D. Kivlin, G.E. Sanborn, and G.G. Myers The cherry-red spot in Tay-Sachs and other storage diseases Ann. Neurol. 17 1985 356 360
68. H.H. Goebel, and K.E. Wisniewski Current state of clinical and morphological features in human NCL Brain Pathol. 14 2004 61 69
69. J. Vesa, and L. Peltonen Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins Curr. Mol. Med. 2 2002 439 444
70. L.I. Bohra, J.S. Weizer, A.G. Lee, and R.A. Lewis Vision loss as the presenting sign in juvenile neuronal ceroid lipofuscinosis J. Neuroophthalmol. 20 2000 111 115
71. S. Sinha, P. Satishchandra, V. Santosh, N. Gayatri, and S.K. Shankar Neuronal ceroid lipofuscinosis: a clinicopathological study Seizure 13 2004 235 440
72. V. Gieselmann, S. Franken, D. Klein, J.E. Mansson, R. Sandhoff, R. Lullmann Rauch, D. Hartmann, V.P. Saravanan, P.P. De Deyn, R. D'Hooge, A.M. Van Der Linden, and N. Schaeren-Wiemers Metachromatic leukodystrophy: consequences of sulphatide accumulation Acta Paediatr. Suppl. 92 2003 74 79
73. J. Berger, H.W. Moser, and S. Forss-Petter Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment Curr. Opin. Neurol. 14 2001 305 312
74. J.S. Till, E.S. Roach, and B.K. Burton Sialidosis (neuraminidase deficiency) types I and II: neuro-ophthalmic manifestations J. Clin. Neuroophthalmol. 7 1987 40 44
75. E.I. Traboulsi, and I.H. Maumenee Ophthalmologic findings in mucolipidosis III (pseudo-Hurler polydystrophy) Am. J. Ophthalmol. 102 1986 592 597
76. K.G. Riedel, J. Zwaan, K.R. Kenyon, E.H. Kolodny, L. Hanninen, and D.M. Albert Ocular abnormalities in mucolipidosis IV Am. J. Ophthalmol. 99 1985 125 136
77. T. Usui, S. Sawaguchi, H. Abe, K. Iwata, and K. Oyanagi Late-infantile type galactosialidosis. Histopathology of the retina and optic nerve Arch. Ophthalmol. 109 1991 542 546
78. M. Palmer, W.R. Green, I.H. Maumenee, D.L. Valle, H.S. Singer, S.J. Morton, and H.W. Moser Niemann-Pick disease-type C. Ocular histopathologic and electron microscopic studies Arch. Ophthalmol. 103 1985 817 822
79. M. Elleder, J. Kraus, and R. Kodet Infantile sialic acid storage disease (ISSD). Report on first case in Czech Republic with biopsy and autopsy findings Sb. Lek. 94 1993 145 153
80. P. Dureau, M. Broyer, and J.L. Dufier Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine J. Pediatr. Ophthalmol. Strabismus 40 2003 142 146
81. W.A. Gahl, J.G. Thoene, and J.A. Schneider Cystinosis N. Engl. J. Med. 347 2002 111 121
82. C.F. Dogulu, E. Tsilou, B. Rubin, E.J. FitzGibbon, M.I. Kaiser, O.M. Rennert, and W.A. Gahl Idiopathic intracranial hypertension in cystinosis J. Pediatr. 145 2004 673 678
83. B.A. Salbert, J. Astruc, and B. Wolf Ophthalmologic findings in biotinidase deficiency Ophthalmologica 206 1993 177 181
84. F.L. Kretzer, H.M. Hittner, and R.S. Mehta Ocular manifestations of the Smith-Lemli-Opitz syndrome Arch. Ophthalmol. 99 1981 2000 2006
85. M.H. Seelenfreund, S. Gartner, and P.F. Vinger The ocular pathology of Menkes' disease. (Kinky hair disease) Arch. Ophthalmol. 80 1968 718 720
86. J.P. Burke, M. O'Keefe, R. Bowell, and E.R. Naughten Ocular complications in homocystinuria-early and late treated Br. J. Ophthalmol. 73 1989 427 431
87. N. Patton, S. Beatty, I.C. Lloyd, and J.E. Wraith Optic atrophy in association with cobalamin C (cblC) disease Ophthalmic Genet. 21 2000 151 154
88. T. Ianchulev, T. Kolin, K. Moseley, and A. Sadun Optic nerve atrophy in propionic academia Ophthalmology 110 2003 1850 1854
89. C.D. Alldredge, C.R. Schlieve, N.R. Miller, and L.A. Levin Pathophysiology of the optic neuropathy associated with Friedreich ataxia Arch. Ophthalmol. 121 2003 1582 1585
90. M.E. Shy Charcot-Marie-Tooth disease: an update Curr. Opin. Neurol. 17 2004 579 585
91. N. Gordon Canavan disease: a review of recent developments Eur. J. Paediatr. Neurol. 5 2001 65 69
92. D.A. Hardman, C.R. Pullinger, R.L. Hamilton, J.P. Kane, and M.J. Malloy Molecular and metabolic basis for the metabolic disorder normotriglyceridemic abetalipoproteinemia J. Clin. Invest. 88 1991 1722 1729
93. K. Inoue PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2 Neurogenetics 6 2005 1 16
94. D. Borrett, and L.E. Becker Alexander's disease, a disease of astrocytes Brain 108 1985 1367 1385
95. L.I. Macedo-Souza, F. Kok, S. Santos, S.C. Amorim, A. Starling, A. Nishimura, K. Lezirovitz, A.M. Lino, and M. Zatz Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13 Ann. Neurol. 57 2005 730 737
96. T. Ozawa, D. Paviour, N.P. Quinn, K.A. Josephs, H. Sangha, L. Kilford, D.G. Healy, N.W. Wood, A.J. Lees, J.L. Holton, and T. Revesz The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations Brain 127 2004 2657 2671
97. R. Sorcinelli, E. Cacace, M. Del Piano, Optic nerve compression by extramedullary hematopoietic tissue in a patient suffering from beta-thalassemia intermedia, Metab. Pediatr. Syst. Ophthalmol. 22-23 (1999-2000) 5-6.
98. P. Bitoun, B. Martin-Pont, E. Tamboise, and J. Gaudelus Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation Ann. Genet. 37 1994 75 77
99. E.I. Traboulsi, I. De Becker, and I.H. Maumenee Ocular findings in Cockayne syndrome Am. J. Ophthalmol. 114 1992 579 583
100. R.S. Bahn, and A.E. Heufelder Pathogenesis of Graves' ophthalmopathy New Eng. J. Med. 329 1993 1468 1475
101. J.B. Jonas Clinical implications of peripapillary atrophy in glaucoma Curr. Opin. Ophthalmol. 16 2005 84 88
102. A.G. Lee, F.Y. Chau, K.C. Golnik, R.H. Kardon, and M. Wall The diagnostic yield of the evaluation for isolated unexplained optic atrophy Ophthalmology 112 2005 757 759