Diagnostics and management of hereditary optic nerve atrophies and retinal degenerations;Diagnostik und management erblicher optikusatrophien und netzhautdegenerationen

Klinische Monatsblatter fur Augenheilkunde

Volumn 225, Issue 9, 2008, Pages

  Rüther, Klaus ^a   Leo Kottler, Beate ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b Neuroophthalmologie ^*  (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; RHODOPSIN;

ALBINISM; CLINICAL FEATURE; COLOR BLINDNESS; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EPIGENETICS; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; RETINA DEGENERATION; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; RETINOSCHISIS; REVIEW; SYMPTOM; X CHROMOSOME;

ADULT; CHILD; CHILD, PRESCHOOL; CROSS-SECTIONAL STUDIES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FLUORESCEIN ANGIOGRAPHY; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HUMANS; INFANT; MACULAR DEGENERATION; OPTIC ATROPHIES, HEREDITARY; PHYSICIAN-PATIENT RELATIONS; PROGNOSIS; RETINAL DEGENERATION; RETINOSCOPY; TOMOGRAPHY, OPTICAL COHERENCE; VISION DISORDERS; VISION TESTS;

EID: 54749091631     PISSN: 00232165     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1038769     Document Type: Review

References (41)

1. Kjer B, Eiberg H, Kjer P, Rosenberg T. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand 1996; 74: 3-7
2. Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol 2007; 143: 656-662
3. Votruba M, Aijaz S, Moore AT. A review of primary hereditary optic neuropathies. J Inherit Metab Dis 2003; 26: 209-227
4. Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000; 26: 211-215
5. Delettre C, Lenaers G, Griffoin JM, 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 CP. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000; 26: 207-210
6. Frezza C, Cipolat S, Martins de Brito O, Micaroni M, Beznoussenko GV, Rudka T, Bartoli D, Polishuck RS, Danial NN, De Strooper B, Scorrano L. OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion. Cell 2006; 126: 177-189
7. Bette S, Zimmermann U, Wissinger B, Knipper M. OPA1, the disease gene for optic atrophy type Kjer, is expressed in the inner ear. Histochem Cell Biol 2007; 128: 421-430
8. Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 2004; 138: 749-755
9. Verny C, Loiseau D, Scherer C, Lejeune P, Chevrollier A, Gueguen N, Guillet V, Dubas F, Reynier P, Amati-Bon-neau P, Bonneau D. Multiple sclerosis-like disorder in opa1-related autosomal dominant optic atrophy. Neurology 2008; 70: 1152-1153
10. Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthièry Y, Lenaers G, Bonneau D. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet 2004; 41: e110
11. Kerrison JB, Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, Zhu D, Maumenee ICH. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol 1999; 117: 805-810
12. Barbet F, Hakiki S, Orssaud C, Gerber S, Perrault I, Hanein S, Ducroq D, Dufier JL, Munnich A, Kaplan J, Rozet JM. A third locus for dominant optic atrophy on chromosome 22q. J Med Genet 2005; 42: e1
13. Barbet F, Gerber S, Hakiki S, Perrault I, Hanein S, Ducroq D, Tanguy G, Dufier JL, Munnich A, Rozet JM, Kaplan J. A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q. Eur J Hum Genet 2003; 11: 966-971
14. Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. 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 2001; 69: 1218-1224
15. Assink JJ, Tijmes NT, ten Brink JB, Oostra RJ, Riemslag FC, de Jong PT, Bergen AA. 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 1997; 61: 934-939
16. Katz BJ, Zhao Y, Warner JE, Tong Z, Yang Z, Zhang K. A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2. Am J Med Genet A 2006; 140: 2207-2211
17. Went LN, De Vries-De Mol EC, Volker-Dieben HJ. A family with apparently sex-linked optic atrophy. J Med Genet 1975; 12: 94-98
18. Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, Jiralerspong S, Trottier Y, Kish SJ, Faucheux B, Trouillas P, Authier FJ, Dürr A, Mandel JL, Vescovi A, Pandolfo M, Koenig M. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997; 6: 1771-1780
19. Christodoulou K, Deymeer F, Serdaroǧlu P, Ozdemir C, Poda M, Georgiou DM, Ioannou P, Tsingis M, Zamba E, Middleton LT. Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity. Neurogenetics 2001; 3: 127-132
20. Strom TM, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T. 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 2001; 7: 2021-2028
21. Amr S, Heisey C, Zhang M, Xia XJ, Shows KH, Ajlouni K, Pandya A, Satin LS, El-Shanti H, Shiang R. A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet 2007; 81: 673-683
22. Alle Belege/Zitate/Literaturstellen zu LHON auf Anfrage, E-Mail: beate.leo-kottler@med.uni-tuebingen.de
23. Kellner U, Tillack H, Renner AB. [Hereditary retinochoroidal dystrophies. Part 1: Pathogenesis, diagnosis, therapy and patient counselling]. Ophthalmologe 2004; 101: 307-319
24. Jang YP, Matsuda H, Itagaki Y, Nakanishi K, Sparrow JR. Characterization of peroxy-A2E and furan-A2E photooxidation products and detection in human and mouse retinal pigment epithelial cell lipofuscin. J Biol Chem 2005; 280: 39732-39729
25. Radu RA, Han Y, Bui TV, Nusinowitz S, Bok D, Lichter J, Widder K, Travis GH, Mata NL. Reductions in serum vitamin A arrest accumulation of toxic retinal fluorophores: a potential therapy for treatment of lipofuscin-based retinal diseases. Invest Ophthalmol Vis Sci 2005; 46: 4393-4401
26. Demirci FY, Rigatti BW, Mah TS, Gorin MB. A novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa and Coats'-like exudative vasculopathy. Am J Ophthalmol 2006; 141: 208-210
27. Charbel Issa P, Scholl HP, Helb HM, Fleckenstein M, Inhetvin-Hutter C, Holz FG. [Unilateral Pigmented Paravenous Retinochoroidal Atrophy.] Klin Monatsbl Augenheilkd 2007; 224: 791-793
28. Moore AT, Fitzke FW, Kemp CM, Arden GB, Keen TJ, Inglehearn CF, Bhattacharya SS, Bird AC. Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation. Br J Ophthalmol 1992; 76: 465-469
29. Tolmachova T, Anders R, Abrink M, Bugeon L, Dallman MJ, Futter CE, Ramalho JS, Tonagel F, Tanimoto N, Seeliger MW, Huxley C, Seabra MC. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. J Clin Invest 2006; 116: 386-394
30. 6-responsive ornithine aminotransferase deficiency with a novel mutation G237D. Tohoku J Exp Med 2005; 205: 335-342
31. Kaiser-Kupfer MI, Caruso RC, Valle D, Reed GF. Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy. Arch Ophthalmol 2004; 122: 982-984
32. Rüther K, Gal A, Kohlschütter A. [The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis]. Klin Monatsbl Augenheilkd 2006; 223: 542-544
33. Apushkin MA, Fishman GA, Rajagopalan AS. Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. Retina 2005; 25: 612-618
34. Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, Cideciyan AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J. Gene therapy restores vision in a canine model of childhood blindness. Nat Genet 2001; 28: 92-95
35. Rüther K. [Adult Refsum disease. A retinal dystrophy with therapeutic options]. Ophthalmologe 2005; 102: 772-777
36. Marigo V. Programmed cell death in retinal degeneration: targeting apoptosis in photoreceptors as potential therapy for retinal degeneration. Cell Cycle 2007; 6: 652-655
37. Leveillard T, Mohand-Said S, Lorentz O, Hicks D, Fintz AC, Clerin E, Simonutti M, Forster V, Cavusoglu N, Chalmel F, Dolle P, Poch O, Lambrou G, Sahel JA. Identification and characterization of rod-derived cone viability factor. Nat Genet 2004; 36: 755-759
38. Chalmel F, Leveillard T, Jaillard C, Lardenois A, Berdugo N, Morel E, Koehl P, Lambrou G, Holmgren A, Sahel JA, Poch O. Rod-derived Cone Viability Factor-2 is a novel bifunctional-thioredoxin-like protein with therapeutic potential. BMC Mol Biol 2007; 8: 74
39. Bainbridge JW, Smith AJ, Barker SS, Robbie S, Henderson R, Balaggan K, Viswanathan A, Holder GE, Stockman A, Tyler N, Petersen-Jones S, Bhattacharya SS, Thrasher AJ, Fitzke FW, Carter BJ, Rubin GS, Moore AT, Ali RR. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 2008; 358: 2231-2239
40. Maguire AM, Simonelli F, Pierce EA, Pugh Jr EN, Mingozzi F, Bennicelli J, Banfi S, Marshall KA, Testa F, Surace EM, Rossi S, Lyubarsky A, Arruda VR, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma JX, Redmond TM, Zhu X, Hauck B, Zelenaia O, Shindler KS, Maguire MG, Wright JF, Volpe NJ, McDonnell JW, Auricchio A, High KA, Bennett J. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 2008; 358: 2240-2248
41. Berson EL. Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture. Exp Eye Res 2007; 85: 7-14