Clinical and genetic findings in a patient with fundus albipunctatus;Klinische und molekulargenetische befunde bei einer patientin mit fundus albipunctatus

Ophthalmologe

Volumn 101, Issue 2, 2004, Pages 177-184

  Ruther K ^a,c   Janssen, B P M ^b   Kellner, U ^a   Janssen, J J M ^b   Bohne, M ^a   Reimann, J ^a   Driessen, C A G G ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^c HUMBOLDT UNIVERSITY   (Germany)

Author keywords

11 cis retinol dehydrogenase; Cone dysfunction; Dark adaptation; Fundus albipunctatus; Visual cycle

Indexed keywords

11 CIS RETINOL DEHYDROGENASE; RETINOL DEHYDROGENASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DARK ADAPTATION; ELECTRORETINOGRAM; EXON; EYE FUNDUS ALBIPUNCTATUS; FEMALE; GENE MUTATION; HUMAN; INTRON; OPHTHALMOSCOPY; PATHOGENESIS; PERIMETRY; VISUAL ACUITY;

EID: 10744232796     PISSN: 0941293X     EISSN: 14330423     Source Type: Journal    
DOI: 10.1007/s00347-003-0895-y     Document Type: Article

References (20)

1. Cideciyan AV, Haeseleer F, Fariss RN, Aleman TS, Jang GF, Verlinde CL, Marmor MF, Jacobson SG, Palczewski K (2000) Rod and cone visual cycle consequences of a null mutation in the 11-cis retinol dehydrogenase gene in man. Vis Neurosci 17: 667-678
2. Driessen CAGG, Janssen APM, Winkens HJ, Vugt AHM van, Leeuw ALM de, Janssen JJM (1995) Cloning and expression of a cDNA encoding bovine retinal pigment epithelial 11-cis retinol dehydrogenase. Invest Ophthalmol Vis Sci 36:1988-1996
3. Driessen CAGG, Winkens HJ, Kuhlmann ED, Janssen APM, Vugt AHM van, Deutman AF, Janssen JJM (1998) The visual cycle retinol dehydrogenase: possible involvement in the 9-cis retinoic acid pathway. FEBS Letters 428: 135-140
4. Driessen CAGG, Winkens HJ, Hoffmann K, Kuhlmann ED, Janssen APM, Vugt AHM van, Hooser JP van, Wieringa BE, Deutman AF, Palczewski K, Ruether K, Janssen JJM (2000) Disruption of the 11-cis retinol dehydrogenase gene leads to accumulation of cis-retinols and cis-retinyl esters. Mol Cell Biol 20: 4275-4287
5. Driessen CAGG, Janssen APM, Winkens HJ, Kuhlmann ED, Vugt AHM van, Pinckers AJLG, Deutman AF, Janssen JJM (2001) Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. Ophthalmology 108:1479-1484
6. Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC (1999) 11-cis Retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Mol Vis S:41
7. Hirose E, Inoue Y, Morimura H, Okamoto N, Fukuda M, Yamamoto S, Fujikado T, Tano Y (2000) Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with Fundus albipunctatus. Invest Ophthalmol Vis Sci 41: 3933-3935
8. Jang GF, Van Hooser JP, Kuksa V, McBee JK, He YG, Janssen JJM, Driessen CAGG, Palczewski K (2001) Characterization of a dehydrogenase activity for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted rdh5 gene: a model for the human hereditary disease fundus albipunctatus. J Biol Chem 276: 32.456-32.465
9. Kuroiwa S, Kikuchi T, Yoshimura N (2000) A novel compound heterozygous mutation in the rdh5 gene in a patient with fundus albipunctatus. Am J Ophthalmol 130: 672-675
10. Marmor MF, Zrenner E (1998,1999 update) Standard for clinical electroretinography. International Society for Clinical Electrophysiology of Vision. Doc Ophthalmol 97: 143-156
11. McBee JK, Palczewski K, Baehr W, Pepperberg DR (2001) Confronting complexity: the interlink of phototransduction and retinoid metabolism in the vertebrate retina. Prog Retin Eye Res 20: 469-529
12. Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y (2000) A high association with cone dystrophy in fundus albipunctatus caused by mutations of the rdh5 gene. Invest Ophthalmol Vis Sci 41: 3925-3932
13. Rattner A, Smallwood PM, Nathans J (2000) Identification and characterization of all-trans retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans retinal to all-trans retinol. J Biol Chem 275: 11.034-11.043
14. Shuber AP, Skoletsky J, Stern R, Handelin BL (1993) Efficient 12-mutation testing in the CFTR gene: a general method for complex mutation analysis. Hum Mol Genet 2: 153-158
15. Simon A, Hellman U, Wernstedt C, Eriksson U (1995) The retinal pigment epithelial-specific 11-cis retinol dehydrogenase belongs to the family of short chain alcohol dehydrogenases. J Biol Chem 270:1107-1112
16. Simon A, Lagercrantz J, Bajalica-Lagercrantz S, Eriksson U (1996) Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. Genomics 36: 424-430
17. Wada Y, Abe T, Fuse N, Tamai M (2000) A frequent 1085delC/insGAAG mutation in the rdh5 gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci 41: 1894-1897
18. Wada Y, Abe T, Sato H, Tamai M (2001) A novel Gly35Ser mutation in the rdh5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. Arch Ophthalmol 119: 1059-1063
19. Wang J, Chai X, Eriksson U, Napoli JL (1999) Activity of human 11-cis retinol dehydrogenase (rdh5) with steroids and retinoids and expression of its mRNA in extraocular human tissue. Biochem J 338: 23-27
20. Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP (1999) Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet 22: 188-191