Gyrate atrophy: Clinical and genetic findings in a female without arginine-restricted diet during her first 39 years of life and report of a new OAT gene mutation

Documenta Ophthalmologica

Volumn 125, Issue 1, 2012, Pages 81-89

  Renner, Agnes B ^a   Walter, Andreas ^a,b   Fiebig, Britta S ^c   Jägle, Herbert ^a  

^a UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^b ACADEMIC TEACHING HOSPITAL DRESDEN FRIEDRICHSTADT   (Germany)

^c UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

Electroretinography; Fundus autofluorescence; Gyrate atrophy; Hyperornithinemia; Optical coherence tomography; Retinal dystrophy

Indexed keywords

ARGININE;

ADULT; ARTICLE; AUTOFLUORESCENCE; BIOMICROSCOPY; CASE REPORT; DIET RESTRICTION; DISEASE COURSE; ELECTRORETINOGRAPHY; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; HUMAN; NUCLEOTIDE SEQUENCE; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PRIORITY JOURNAL; RETINA GYRATE ATROPHY; VISUAL ACUITY;

ADULT; ARGININE; DIET, PROTEIN-RESTRICTED; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; FOLLOW-UP STUDIES; GYRATE ATROPHY; HUMANS; MUTATION; ORNITHINE; ORNITHINE-OXO-ACID TRANSAMINASE; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS;

EID: 84864290273     PISSN: 00124486     EISSN: 15732622     Source Type: Journal    
DOI: 10.1007/s10633-012-9335-0     Document Type: Article

References (42)

1. Valle D, Simell O (2001) The hyperornithinaemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 1857-1895
2. GA Mitchell JE Looney LC Brody G Steel M Suchanek JF Engelhardt HF Willard D Valle 1988 Human ornithine-delta-aminotransferase. cDNA cloning and analysis of the structural gene J Biol Chem 263 14288 14295 3170546 1:CAS:528:DyaL1MXitVKrur0%3D
3. V Ramesh LA Benoit P Crawford PT Harvey TB Shows VE Shih JF Gusella 1988 The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy Am J Hum Genet 42 365 372 2893548 1:CAS:528:DyaL1cXhs1amtr8%3D
4. J Wu V Ramesh JR Kidd CM Castiglione S Myers N Carson L Anderson JF Gusella NE Simpson KK Kidd 1988 The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10 Cytogenet Cell Genet 48 126 127 3197452 10.1159/000132606 1:STN:280:DyaL1M%2FmsVagug%3D%3D (Pubitemid 19014716)
5. GN Rao E Cotlier 1984 Ornithine delta-aminotransferase activity in retina and other tissues Neurochem Res 9 555 562 6462326 10.1007/BF00964382 1:CAS:528:DyaL2cXkslSntb0%3D (Pubitemid 14120960)
6. K Ratzlaff A Baich 1987 Comparison of ornithine aminotransferase activities in the pigment epithelium and retina of vertebrates Comp Biochem Physiol B 88 35 37 3677612 10.1016/0305-0491(87)90075-7 1:STN:280: DyaL1c%2FltlyisQ%3D%3D
7. SL Bernstein P Wong 1998 Regional expression of disease-related genes in human and monkey retina Mol Vis 4 24 9815288 1:CAS:528:DyaK1MXltFSqsrs%3D
8. JJ O'Donnell RP Sandman SR Martin 1978 Gyrate atrophy of the retina: inborn error of L-ornithin: 2-oxoacid aminotransferase Science 200 200 201 635581 10.1126/science.635581 (Pubitemid 8310529)
9. O Simell K Takki 1973 Raised plasma-ornithine and gyrate atrophy of the choroid and retina Lancet 1 1031 1033 4122112 10.1016/S0140-6736(73)90667-3 1:STN:280:DyaE3s7ntlKhtA%3D%3D
10. K Takki O Simell 1974 Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia Br J Ophthalmol 58 907 916 4457103 10.1136/bjo.58.11.907 1:STN:280:DyaE2M7islyktg%3D%3D
11. K Takki 1974 Gyrate atrophy of the choroid and retina associated with hyperornithinaemia Br J Ophthalmol 58 3 23 4841281 10.1136/bjo.58.1.3 1:STN:280:DyaE2c3ntFOrsg%3D%3D
12. K Vannas-Sulonen I Sipila A Vannas O Simell J Rapola 1985 Gyrate atrophy of the choroid and retina. A five-year follow-up of creatine supplementation Ophthalmology 92 1719 1727 4088625 1:STN:280:DyaL287hvFOjsQ%3D%3D (Pubitemid 16172077)
13. MI Kaiser-Kupfer FM de Monasterio D Valle M Walser S Brusilow 1980 Gyrate atrophy of the choroid and retina: improved visual function following reduction of plasma ornithine by diet Science 210 1128 1131 7444439 10.1126/science. 7444439 1:CAS:528:DyaL3MXksF2msw%3D%3D (Pubitemid 11166019)
14. MI Kaiser-Kupfer F de Monasterio D Valle M Walser S Brusilow 1981 Visual results of a long-term trial of a low-arginine diet in gyrate atrophy of choroid and retina Ophthalmology 88 307 310 6973117 1:STN:280:DyaL3M3ks1Wqtg%3D%3D (Pubitemid 11098631)
15. MI Kaiser-Kupfer RC Caruso D Valle 1991 Gyrate atrophy of the choroid and retina. Long-term reduction of ornithine slows retinal degeneration Arch Ophthalmol 109 1539 1548 1755734 10.1001/archopht.1991.01080110075039 1:STN:280:DyaK38%2FpsFygtg%3D%3D
16. MI Kaiser-Kupfer RC Caruso D Valle 2002 Gyrate atrophy of the choroid and retina: further experience with long-term reduction of ornithine levels in children Arch Ophthalmol 120 146 153 11831916 10.1001/archopht.120.2.146 (Pubitemid 34240641)
17. MI Kaiser-Kupfer RC Caruso D Valle GF Reed 2004 Use of an arginine-restricted diet to slow progression of visual loss in patients with gyrate atrophy Arch Ophthalmol 122 982 984 15249361 10.1001/archopht.122.7.982 (Pubitemid 39037961)
18. D Valle M Walser SW Brusilow M Kaiser-Kupfer 1980 Gyrate atrophy of the choroid and retina: amino acid metabolism and correction of hyperornithinaemia with an arginine-deficient diet J Clin Invest 65 371 378 7356686 10.1172/JCI109680 1:CAS:528:DyaL3cXht1Oguro%3D (Pubitemid 10159867)
19. D Valle M Walser S Brusilow MI Kaiser-Kupfer K Takki 1981 Gyrate atrophy of the choroid and retina. Biochemical considerations and experience with an arginine-restricted diet Ophthalmology 88 325 330 7254778 1:STN:280: DyaL3M3ks1WqtQ%3D%3D (Pubitemid 11098634)
20. RG Weleber NG Kennaway NR Buist 1981 Gyrate atrophy of the choroid and retina. Approaches to therapy Int Ophthalmol 4 23 32 7028650 10.1007/BF00139577 1:CAS:528:DyaL3MXlvVGjsrw%3D (Pubitemid 11027366)
21. R Santinelli C Costagliola C Tolone A D'Aloia A D'Avanzo F Prisco L Perrone EM del Giudice 2004 Low-protein diet and progression of retinal degeneration in gyrate atrophy of the choroid and retina: a twenty-six-year follow-up J Inherit Metab Dis 27 187 196 15159649 10.1023/B:BOLI.0000028779. 29966.05 1:CAS:528:DC%2BD2cXkt1Sqtrk%3D (Pubitemid 38756334)
22. Weleber RG (2006) Gyrate atrophy of the choroid and retina. In: Heckenlively JR, Arden GB (eds) Principles and practice of clinical electrophysiology of vision. The MIT Press, Cambridge, pp 705-715
23. C McCulloch EB Marliss 1975 Gyrate atrophy of the choroid and retina: clinical, ophthalmologic, and biochemical considerations Trans Am Ophthalmol Soc 73 153 171 1246803 1:STN:280:DyaE287gs1SisA%3D%3D
24. KK Takki RC Milton 1981 The natural history of gyrate atrophy of the choroid and retina Ophthalmology 88 292 301 7254775 1:STN:280: DyaL3M3ks1WqsA%3D%3D (Pubitemid 11098629)
25. M Kaiser-Kupfer T Kuwabara S Uga K Takki D Valle 1983 Cataract in gyrate atrophy: clinical and morphologic studies Invest Ophthalmol Vis Sci 24 432 436 6832916 1:STN:280:DyaL3s7mtVWlug%3D%3D (Pubitemid 13098556)
26. TL Oliveira RE Andrade C Muccioli J Sallum R Belfort Jr 2005 Cystoid macular edema in gyrate atrophy of the choroid and retina: a fluorescein angiography and optical coherence tomography evaluation Am J Ophthalmol 140 147 149 16038665 10.1016/j.ajo.2004.12.083 (Pubitemid 41008112)
27. DV Vasconcelos-Santos EP Magalhaes MB Nehemy 2007 Macular edema associated with gyrate atrophy managed with intravitreal triamcinolone: a case report Arq Bras Oftalmol 70 858 861 18157315 10.1590/S0004-27492007000500024
28. MF Marmor AB Fulton GE Holder Y Miyake M Brigell M Bach 2009 ISCEV Standard for full-field clinical electroretinography (2008 update) Doc Ophthalmol 118 69 77 19030905 10.1007/s10633-008-9155-4 1:STN:280: DC%2BD1M%2FnvVGjsQ%3D%3D
29. KE Peltola K Nanto-Salonen OJ Heinonen S Jaaskelainen K Heinanen O Simell E Nikoskelainen 2001 Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase Ophthalmology 108 721 729 11297489 10.1016/S0161-6420(00)00587- X 1:STN:280:DC%2BD3M3hslOgtw%3D%3D (Pubitemid 32238468)
30. MI Kaiser-Kupfer D Valle AJ Bron 1980 Clinical and biochemical heterogeneity in gyrate atrophy Am J Ophthalmol 89 219 222 7355975 1:STN:280:DyaL3c7islGktQ%3D%3D (Pubitemid 10182107)
31. S Hayasaka T Shiono K Mizuno C Sasayama S Akiya Y Tanaka M Hayakawa Y Miyake N Ohba 1986 Gyrate atrophy of the choroid and retina: 15 Japanese patients Br J Ophthalmol 70 612 614 3741829 10.1136/bjo.70.8.612 1:STN:280:DyaL283ps1Gqtg%3D%3D (Pubitemid 16038285)
32. MI Kaiser-Kupfer IH Ludwig FM de Monasterio D Valle I Krieger 1985 Gyrate atrophy of the choroid and retina. Early findings Ophthalmology 92 394 401 3991128 1:STN:280:DyaL2M7ovFansQ%3D%3D (Pubitemid 15099103)
33. C Raitta S Carlson K Vannas-Sulonen 1990 Gyrate atrophy of the choroid and retina: ERG of the neural retina and the pigment epithelium Br J Ophthalmol 74 363 367 2378845 10.1136/bjo.74.6.363 1:STN:280:DyaK3czjsFWlsA%3D%3D (Pubitemid 20191171)
34. RC Caruso RB Nussenblatt KG Csaky D Valle MI Kaiser-Kupfer 2001 Assessment of visual function in patients with gyrate atrophy who are considered candidates for gene replacement Arch Ophthalmol 119 667 669 11346393 1:STN:280:DC%2BD3M3mslWjtA%3D%3D (Pubitemid 32417372)
35. K Vannas-Sulonen 1987 Progression of gyrate atrophy of the choroid and retina. A long-term follow-up by fluorescein angiography Acta Ophthalmol (Copenh) 65 101 109 10.1111/j.1755-3768.1987.tb08499.x 1:STN:280: DyaL2s3gvV2ktA%3D%3D (Pubitemid 17030580)
36. RB Feldman SS Mayo DM Robertson JD Jones JA Rostvold 1989 Epiretinal membranes and cystoid macular edema in gyrate atrophy of the choroid and retina Retina 9 139 142 2772421 10.1097/00006982-198909020-00014 1:STN:280: DyaL1MzmvVCguw%3D%3D (Pubitemid 19189248)
37. Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH (2006) Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. Ophthalmology 113:2066 e2061-2010
38. AB Renner BS Fiebig E Cropp BH Weber U Kellner 2009 Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation Arch Ophthalmol 127 907 912 19597113 10.1001/archophthalmol.2009.123 1:CAS:528:DC%2BD1MXptFGksLc%3D
39. MN Preising E Wegscheider C Friedburg CM Poloschek BK Wabbels B Lorenz 2009 Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data Ophthalmology 116 1201-1209 e1201 e1202 10.1016/j.ophtha.2009.01.016
40. CM Poloschek B Kloeckener-Gruissem LL Hansen M Bach W Berger 2008 Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome Invest Ophthalmol Vis Sci 49 4096 4104 18487380 10.1167/iovs.08-2044
41. Y Mashima A Murakami RG Weleber NG Kennaway L Clarke T Shiono G Inana 1992 Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy Am J Hum Genet 51 81 91 1609808 1:CAS:528:DyaK38XlvV2nsLo%3D
42. HC Dietz D Valle CA Francomano RJ Kendzior Jr RE Pyeritz GR Cutting 1993 The skipping of constitutive exons in vivo induced by nonsense mutations Science 259 680 683 8430317 10.1126/science.8430317 1:CAS:528:DyaK3sXhs1Kltbk%3D (Pubitemid 23066290)