Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5

Retina

Volumn 30, Issue 10, 2010, Pages 1704-1713

  Schatz, Patrik ^a,b,c   Preising, Markus ^d,e   Lorenz, Birgit ^d,e   Sander, Birgit ^a   Larsen, Michael ^a,c   Eckstein, Christoph ^e   Rosenberg, Thomas ^c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

^e UNIVERSITY HOSPITAL REGENSBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LIPOFUSCIN; RETINOL DEHYDROGENASE;

ADULT; ARTICLE; AUTOFLUORESCENCE; BRUCH MEMBRANE; CASE REPORT; CHILD; ELECTRORETINOGRAPHY; ENZYME ASSAY; EYE FUNDUS ALBIPUNCTATUS; EYE PHOTOGRAPHY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MALE; MOLECULAR GENETICS; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; RDH5 GENE; RETINA CONE; RETINA DISEASE;

ADULT; ALCOHOL OXIDOREDUCTASES; CARRIER PROTEINS; CHILD; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; FLUORESCENCE; FUNDUS OCULI; HUMANS; LIPOFUSCIN; MALE; MICROARRAY ANALYSIS; MUTATION; PHOTIC STIMULATION; RETINAL DEGENERATION; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL FIELD TESTS; YOUNG ADULT;

EID: 78650178490     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/IAE.0b013e3181dc050a     Document Type: Article

References (29)

1. Radu RA, Han Y, Bui TV, et al. 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.
2. Sieving PA, Chaudhry P, Kondo M, et al. Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy. Proc Natl Acad Sci USA 2001;98:1835-1840.
3. Huang J, Possin DE, Saari JC. Localizations of visual cycle components in retinal pigment epithelium. Mol Vis 2009;15: 223-234.
4. Lidén M, Romert A, Tryggvason K, Persson B, Eriksson U. Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. J Biol Chem 2001;276: 49251-49257.
5. Krastel H. Fundus albipunctatus cum hemeralopia (Lauber) and atypical progressive tapetoretinal degeneration in a pair of siblings. Ber Zusammenkunft Dtsch Ophthalmol Ges 1977;74: 799-804.
6. Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet 1999;22:188-191.
7. NiwaY,Kondo M,UenoS, NakamuraM, Terasaki H, Miyake Y. Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study. Invest Ophthalmol Vis Sci 2005;46:1480-1485.
8. Dryja TP. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. Am J Ophthalmol 2000;130:547-563.
9. Schatz P, Ponjavic V, Andréasson S, McGee TL, Dryja TP, Abrahamson M. Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene. Ophthalmic Genet 2005;3: 119-124.
10. Lorenz B, Wabbels B, Wegscheider E, Hamel CP, Drexler W, Preising MN. Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. Ophthalmology 2004;111:1585-1594.
11. Sander B, Larsen M, Thrane L, Hougaard JL, Jørgensen TM. Enhanced optical coherence tomography imaging by multiple scan averaging. Br J Ophthalmol 2005;89:207-212.
12. Jørgensen TM, Thomadsen J, Christensen U, et al. Enhancing the signal-to-noise ratio in ophthalmic coherence tomography by image registration\method and clinical examples. J Biomed Opt 2007;12:041208.
13. Khaliq S, Abid A, Ismail M, et al. Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. J Med Genet 2005;42:436-438.
14. Querques G, Carrillo P, Querques L, Bux AV, Del Curatolo MV, Delle Noci N. High-definition optical coherence tomographic visualization of photoreceptor layer and retinal flecks in fundus albipunctatus associated with cone dystrophy. Arch Ophthalmol 2009;127:703-706.
15. Schatz P, Bitner H, Sander B, Holfort SK, Andreasson S, Larsen M, Sharon D. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1. Invest Ophthalmol Vis Sci. 2010 Apr 7. Epub Ahead of Print.
16. Bakall B, Radu RA, Stanton JB, et al. Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Exp Eye Res 2007;85: 34-43.
17. Querques G, Zerbib J, Santacroce R, et al. Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. Mol Vis 2009;15: 2960-2972.
18. Wu Z, Bhattacharya SK, Jin Z, et al. CRALBP ligand and protein interactions. Adv Exp Med Biol 2006;572:477-483.
19. Bonilha VL, Bhattacharya SK, West KA, et al. Support for a proposed retinoid-processing protein complex in apical retinal pigment epithelium. Exp Eye Res 2004;79:419-422.
20. Burstedt MS, Forsman-Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O. Ocular phenotype of Bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. Arch Ophthalmol 2001;119:260-267.
21. Driessen CA, Winkens HJ, Hoffmann K, et al. Disruption of the 11-cis-retinol dehydrogenase gene leads to accumulation of cis-retinols and cis-retinyl esters. Mol Cell Biol 2000;20: 4275-4287.
22. Imanishi Y, Gerke V, Palczewski K. Retinosomes: new insights into intracellular managing of hydrophobic substances in lipid bodies. J Cell Biol 2004;166:447-453.
23. Maeda A, Maeda T, Imanishi Y, Golczak M, Moise AR, Palczewski K. Aberrant metabolites in mouse models of congenital blinding diseases: formation and storage of retinyl esters. Biochemistry 2006;45:4210-4219.
24. Zweifel SA, Spaide RF, Curcio CA, Malek G, Imamura Y. Reticular pseudodrusen are subretinal drusenoid deposits. Ophthalmology 2010;117:303-312.
25. Cideciyan AV, Haeseleer F, Fariss RN, et al. Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. Vis Neurosci 2000;17:667-678.
26. Farjo KM, Moiseyev G, Takahashi Y, Crouch RK, Ma JX. The 11-cis-retinol dehydrogenase activity of RDH10 and its interaction with visual cycle proteins. Invest Ophthalmol Vis Sci 2009;50:5089-5097.
27. Iannaccone A, Tedesco SA, Gallaher KT, Yamamoto H, Charles S, Dryja TP. Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. Doc Ophthalmol 2007;115:111-116.
28. Gonzalez-Fernandez F, Kurz D, Bao Y, et al. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Mol Vis 1999;5:41.
29. Wang JS, Kefalov VJ. An alternative pathway mediates the mouse and human cone visual cycle. Curr Biol 2009;19: 1665-1669.