A homozygous frameshift mutation in LRAT causes retinitis punctata albescens

Ophthalmology

Volumn 119, Issue 9, 2012, Pages 1899-1906

  Littink, Karin W ^a,b   Van Genderen, Maria M ^c   Van Schooneveld, Mary J ^d,e   Visser, Linda ^a   Riemslag, Frans C C ^a,c   Keunen, Jan E E ^b   Bakker, Bjorn ^b   Zonneveld, Marijke N ^b   Den Hollander, Anneke I ^b   Cremers, Frans P M ^b,f   Van Den Born, L Ingeborgh ^a  

^a ROTTERDAM EYE HOSPITAL   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Bartiméus Institute for the Visually Impaired   (Netherlands)

^d NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LECITHIN RETINOL ACYLTRANSFERASE; RDH5 PROTEIN; RETINOID BINDING PROTEIN; RETINOL DEHYDROGENASE; RLBP1 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOFLUORESCENCE IMAGING; BASE PAIRING; CASE STUDY; CLINICAL ARTICLE; DNA SEQUENCE; ELECTRORETINOGRAPHY; EYE EXAMINATION; EYE FUNDUS ALBIPUNCTATUS; FAMILIAL DISEASE; FRAMESHIFT MUTATION; GENE MAPPING; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; HETEROZYGOTE; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; OBSERVATIONAL STUDY; OPHTHALMOSCOPY; OPTICAL COHERENCE TOMOGRAPHY; PRIORITY JOURNAL; RETINA DISEASE; RETINA DYSTROPHY; RETINA MACULOPATHY; RETINITIS PUNCTATA ALBESCENS; VISUAL ACUITY; VISUAL FIELD;

ACYLTRANSFERASES; ADOLESCENT; ADULT; AGED; ALCOHOL OXIDOREDUCTASES; CARRIER PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FLUORESCEIN ANGIOGRAPHY; FRAMESHIFT MUTATION; HOMOZYGOTE; HUMANS; MIDDLE AGED; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINA; RETINAL DISEASES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS; YOUNG ADULT;

EID: 84865694202     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2012.02.037     Document Type: Article

References (47)

1. R.E. Carr Congenital stationary nightblindness Trans Am Ophthalmol Soc 72 1974 448 487
2. T.P. Dryja Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture Am J Ophthalmol 130 2000 547 563
3. M.F. Marmor Fundus albipunctatus: a clinical study of the fundus lesions, the physiologic deficit, and the vitamin A metabolism Doc Ophthalmol 43 1977 277 302
4. M.F. Marmor Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus Ophthalmology 97 1990 380 384
5. H. Morimura, E.L. Berson, T.P. Dryja Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens Invest Ophthalmol Vis Sci 40 1999 1000 1004
6. F.Y. Demirci, B.W. Rigatti, T.S. Mah, M.B. Gorin A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens Am J Ophthalmol 138 2004 171 173
7. G.A. Fishman, M.F. Roberts, D.J. Derlacki Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes Arch Ophthalmol 122 2004 70 75
8. M. Nakamura, J. Lin, Y. Ito, Y. Miyake Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens Am J Ophthalmol 139 2005 1133 1135
9. R.E. Carr, H. Ripps, I.M. Siegel Visual pigment kinetics and adaptation in fundus albipunctatus Doc Ophthalmol Proc Ser 4 1974 193 204
10. H. Yamamoto, A. Simon, U. Eriksson Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus Nat Genet 22 1999 188 191
11. F. Gonzalez-Fernandez, D. Kurz, Y. Bao 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus Mol Vis [serial online] 5 1999 41 http://www.molvis.org/ molvis/v5/a41/ Accessed December 26, 2011
12. G.H. Travis, M. Golczak, A.R. Moise, K. Palczewski Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents Annu Rev Pharmacol Toxicol 47 2007 469 512
13. A. Simon, U. Hellman, C. Wernstedt, U. Eriksson The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases J Biol Chem 270 1995 1107 1112
14. M.A. Maw, B. Kennedy, A. Knight Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa Nat Genet 17 1997 198 200
15. M.S. Burstedt, O. Sandgren, G. Holmgren, K. Forsman-Semb Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26 Invest Ophthalmol Vis Sci 40 1999 995 1000
16. E.R. Eichers, J.S. Green, D.W. Stockton Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1 Am J Hum Genet 70 2002 955 964
17. G. Humbert, C. Delettre, A. Senechal Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens Invest Ophthalmol Vis Sci 47 2006 4719 4724
18. J.W. Crabb, A. Carlson, Y. Chen Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein Protein Sci 7 1998 746 757
19. M.L. Batten, Y. Imanishi, D.C. Tu Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis [report online] PLoS Med 2 2005 e333 http://www.plosmedicine.org/article/ info%3Adoi%2F10.1371%2Fjournal.pmed.0020333 Accessed December 26, 2011
20. Y. Imanishi, M.L. Batten, D.W. Piston Noninvasive two-photon imaging reveals retinyl ester storage structures in the eye J Cell Biol 164 2004 373 383
21. J.P. Van Hooser, T.S. Aleman, Y.G. He Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness Proc Natl Acad Sci U S A 97 2000 8623 8628
22. A. Maeda, T. Maeda, K. Palczewski Improvement in rod and cone function in mouse model of fundus albipunctatus after pharmacologic treatment with 9-cis-retinal Invest Ophthalmol Vis Sci 47 2006 4540 4546
23. Y. Rotenstreich, D. Harats, A. Shaish Treatment of a retinal dystrophy, fundus albipunctatus, with oral 9-cis-{beta}-carotene Br J Ophthalmol 94 2010 616 621
24. M.F. Marmor, A.B. Fulton, G.E. Holder International Society for Clinical Electrophysiology of Vision ISCEV standard for full-field clinical electroretinography (2008 update) Doc Ophthalmol 118 2009 69 77
25. S.A. Miller, D.D. Dykes, H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucleic Acids Res 16 1988 1215
26. Y. Wada, T. Abe, H. Sato, M. Tamai A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy Arch Ophthalmol 119 2001 1059 1063
27. C.A. Driessen, B.P. Janssen, H.J. Winkens Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus Ophthalmology 108 2001 1479 1484
28. D.A. Thompson, Y. Li, C.L. McHenry Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy Nat Genet 28 2001 123 124
29. A. Senechal, G. Humbert, M.O. Surget Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis Am J Ophthalmol 142 2006 702 704
30. A.I. den Hollander, I. Lopez, S. Yzer Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays Invest Ophthalmol Vis Sci 48 2007 5690 5698
31. P. Schatz, M. Preising, B. Lorenz Fundus albipunctatus associated with compound heterozygous mutations in RPE65 Ophthalmology 118 2011 888 894
32. M. Nakamura, Y. Hotta, A. Tanikawa A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene Invest Ophthalmol Vis Sci 41 2000 3925 3932
33. K. Hotta, M. Nakamura, M. Kondo Macular dystrophy in a Japanese family with fundus albipunctatus Am J Ophthalmol 135 2003 917 919
34. G. Querques, P. Carrillo, L. Querques High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy Arch Ophthalmol 127 2009 703 706
35. M. Nakamura, Y. Miyake Macular dystrophy in a 9-year-old boy with fundus albipunctatus Am J Ophthalmol 133 2002 278 280
36. M. Nakamura, J. Skalet, Y. Miyake RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus Doc Ophthalmol 107 2003 3 11
37. M. Nakamura, J. Lin, Y. Miyake Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy Arch Ophthalmol 122 2004 1203 1207
38. Y. Miyake, N. Shiroyama, S. Sugita Fundus albipunctatus associated with cone dystrophy Br J Ophthalmol 76 1992 375 379
39. R.W. Collin, L.I. van den Born, B.J. Klevering High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative for autosomal recessive RP in the Dutch population Invest Ophthalmol Vis Sci 52 2011 2227 2239
40. A.I. den Hollander, R. Roepman, R.K. Koenekoop, F.P. Cremers Leber congenital amaurosis: genes, proteins and disease mechanisms Prog Retin Eye Res 27 2008 391 419
41. R.G. Weleber, M. Michaelides, K.M. Trzupek The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis Invest Ophthalmol Vis Sci 52 2011 292 302
42. S.G. Jacobson, T.S. Aleman, A.V. Cideciyan Defining the residual vision in Leber congenital amaurosis caused by RPE65 mutations Invest Ophthalmol Vis Sci 50 2009 2368 2375
43. M.A. Genead, G.A. Fishman, M. Lindeman Spectral-domain optical coherence tomography and fundus autofluorescence characteristics in patients with fundus albipunctatus and retinitis punctata albescens Ophthalmic Genet 31 2010 66 72
44. P.I. Sergouniotis, E.H. Sohn, Z. Li Phenotypic variability in RDH5 retinopathy (fundus albipunctatus) Ophthalmology 118 2011 1661 1670
45. C.A. Driessen, H.J. Winkens, K. Hoffmann Disruption of the 11-cis-retinol dehydrogenase gene leads to accumulation of cis-retinols and cis-retinyl esters Mol Cell Biol 20 2000 4275 4287
46. A. Maeda, T. Maeda, Y. Imanishi Aberrant metabolites in mouse models of congenital blinding diseases: formation and storage of retinyl esters Biochemistry 45 2006 4210 4219
47. K.M. Farjo, G. Moiseyev, Y. Takahashi The 11-cis-retinol dehydrogenase activity of RDH10 and its interaction with visual cycle proteins Invest Ophthalmol Vis Sci 50 2009 5089 5097