Diagnostik und Management erblicher Optikusatrophien und Netzhautdegenerationen

Literatur

• 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 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 Ophthalmol. 2007;  143 656-662
• 3 Votruba M, Aijaz S, Moore A T. A review of primary hereditary optic neuropathies.  J Inherit Metab Dis. 2003;  26 209-227
• 4 Alexander C, Votruba M, Pesch U E, 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.  Nat Genet. 2000;  26 211-215
• 5 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.  Nat Genet. 2000;  26 207-210
• 6 Frezza C, Cipolat S, Martins de Brito O, Micaroni M, Beznoussenko G V, Rudka T, Bartoli D, Polishuck R S, Danial N N, 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 B J, Warner J E, 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 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-Bonneau 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 M C, Pelletier J B, 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 J B, Arnould V J, Ferraz Sallum J M, Vagefi M R, Barmada M M, Li Y, Zhu D, Maumenee I CH. 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 J L, Munnich A, Kaplan J, Rozet J M. 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 J L, Munnich A, Rozet J M, 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 W A, 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 J J, Tijmes N T, ten Brink J B, Oostra R J, Riemslag F C, de Jong P T, Bergen A A. 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 B J, Zhao Y, Warner J E, 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 L N, De Vries-De Mol E C, Volker-Dieben H J. 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 S J, Faucheux B, Trouillas P, Authier F J, Dürr A, Mandel J L, 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, Serdaroğlu P, Ozdemir C, Poda M, Georgiou D M, Ioannou P, Tsingis M, Zamba E, Middleton L T. 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 T M, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz K D, 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 X J, Shows K H, Ajlouni K, Pandya A, Satin L S, 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: [e-mail]
• 23 Kellner U, Tillack H, Renner A B. [Hereditary retinochoroidal dystrophies. Part 1: Pathogenesis, diagnosis, therapy and patient counselling].  Ophthalmologe. 2004;  101 307-319
• 24 Jang Y P, Matsuda H, Itagaki Y, Nakanishi K, Sparrow J R. 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 R A, Han Y, Bui T V, Nusinowitz S, Bok D, Lichter J, Widder K, Travis G H, Mata N L. 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 F Y, Rigatti B W, Mah T S, Gorin M B. 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 H P, Helb H M, Fleckenstein M, Inhetvin-Hutter C, Holz F G. [Unilateral Pigmented Paravenous Retinochoroidal Atrophy.]  Klin Monatsbl Augenheilkd. 2007;  224 791-793
• 28 Moore A T, Fitzke F W, Kemp C M, Arden G B, Keen T J, Inglehearn C F, Bhattacharya S S, Bird A C. 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 M J, Futter C E, Ramalho J S, Tonagel F, Tanimoto N, Seeliger M W, Huxley C, Seabra M C. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia.  J Clin Invest. 2006;  116 386-394
• 30 Ohkubo Y, Ueta A, Ito T, Sumi S, Yamada M, Ozawa K, Togari H. Vitamin B₆-responsive ornithine aminotransferase deficiency with a novel mutation G237D.  Tohoku J Exp Med. 2005;  205 335-342
• 31 Kaiser-Kupfer M I, Caruso R C, Valle D, Reed G F. 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 M A, Fishman G A, Rajagopalan A S. Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis.  Retina. 2005;  25 612-618
• 34 Acland G M, Aguirre G D, Ray J, Zhang Q, Aleman T S, Cideciyan A V, Pearce-Kelling S E, Anand V, Zeng Y, Maguire A M, Jacobson S G, Hauswirth W W, 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 A C, Clerin E, Simonutti M, Forster V, Cavusoglu N, Chalmel F, Dolle P, Poch O, Lambrou G, Sahel J A. 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 J A, 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 J W, Smith A J, Barker S S, Robbie S, Henderson R, Balaggan K, Viswanathan A, Holder G E, Stockman A, Tyler N, Petersen-Jones S, Bhattacharya S S, Thrasher A J, Fitzke F W, Carter B J, Rubin G S, Moore A T, Ali R R. Effect of gene therapy on visual function in Leber's congenital amaurosis.  N Engl J Med. 2008;  358 2231-2239
• 40 Maguire A M, Simonelli F, Pierce E A, Pugh Jr E N, Mingozzi F, Bennicelli J, Banfi S, Marshall K A, Testa F, Surace E M, Rossi S, Lyubarsky A, Arruda V R, Konkle B, Stone E, Sun J, Jacobs J, Dell'Osso L, Hertle R, Ma J X, Redmond T M, Zhu X, Hauck B, Zelenaia O, Shindler K S, Maguire M G, Wright J F, Volpe N J, McDonnell J W, Auricchio A, High K A, Bennett J. Safety and efficacy of gene transfer for Leber's congenital amaurosis.  N Engl J Med. 2008;  358 2240-2248
• 41 Berson E L. Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann lecture.  Exp Eye Res. 2007;  85 7-14