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Table of Contents
Vol. 36, No. 1, 2004
Issue release date: January–February 2004
Ophthalmic Res 2004;36:43–50
(DOI:10.1159/000076109)

A Novel Homozygous Gly107Arg Mutation in the RDH5 Gene in a Japanese Patient with Fundus albipunctatus with Sectorial Retinitis pigmentosa

Sato M. · Oshika T. · Kaji Y. · Nose H.
Departments of Ophthalmology,aUniversity Hospital of Tsukuba and bInstitute of Clinical Medicine, University of Tsukuba, Tsukuba, Japan

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Abstract

We examined the RDH5 gene for mutations in two unrelated Japanese families with fundus albipunctatus. Each proband with fundus albipunctatus in two families (family A’s case was atypical with sectorial retinitis pigmentosa, while family B’s case was typical), and 2 obligate carriers underwent molecular analysis of their RDH5 gene. DNA was amplified for all coding exons of the RDH5 gene with established primer pairs, and sequenced directly. Each family had a different mutation in the RDH5 gene. Family A had a homozygous mutation (Gly107Arg) while family B had a compound heterozygous mutation (Arg280His and Leu310GluVal). The obligate carriers were heterozygous with the wild-type and mutant-type alleles. The homozygous Gly107Arg mutation in the RDH5 gene described in this paper has not previously been described, though compound heterozygous mutations (Gly107Arg and Leu310GluVal) in the RDH5 gene have previously been reported.



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References

  1. Lauber H: Die sogenannte Retinitis punctata albescens. Klin Monatsbl Augenheilkd 1910;48:133–148.
  2. Heckenlively J: Congenital stationary night blindness; in Traboulsi EI (ed): Genetic Diseases of the Eye. New York, Oxford University Press, 1998, pp 389–396.
  3. Marmor MF: Long-term follow-up of the physiologic abnormalities and fundus changes in fundus albipunctatus. Ophthalmology 1990;97:380–384.
  4. 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.
  5. Deutman AF: Flecked retina disease; in Krill AE (ed): Hereditary Retinal and Choroidal Disease. Hagerstown, Harper & Row, 1977, pp 739–749.
  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. Kajiwara K, Sandberg MA, Berson EL, Dryja TP: A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet 1993;3:208–212.
  8. Souied E, Soubrane G, Benlian P, Coscas GJ, Gerber S, Munnich A, Kaplan J: Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. Am J Ophthalmol 1996;121:19–25.
  9. Shastry BS, Trese MT: Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens. Biochem Biophys Res Commun 1997;231:103–105.
  10. Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K: Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci 1999;40:995–1000.
  11. Morimura H, Berson EL, Dryja TP: Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci 1999;40:1000–1004.
  12. Simon A, Lagercrantz J, Bajalica-Lagercrantz S, Eriksson U: Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. Genomics 1996;36:424–430.

    External Resources

  13. Driessen CA, Winkens HJ, Hoffmann K, Kuhlmann LD, Janssen BP, Van Vugt AH, Van Hooser JP, Wieringa BE, Deutman AF, Palczewski K, Ruether K, Janssen JJ: 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.
  14. Liden 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.
  15. Gonzalez-Fernandez F, Kurz D, Bao Y, Newman S, Conway BP, Young JE, Han DP, Khani SC: 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. Mol Vis 1999;5:41.
  16. Wada Y, Abe T, Fuse N, Tamai M: A frequent 1085delC/insGAAG mutation in the RDH5 gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci 2000;41:1894–1897.
  17. Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y: A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene. Invest Ophthalmol Vis Sci 2000;41:3925–3932.
  18. Hirose E, Inoue Y, Morimura H, Okamoto N, Fukuda M, Yamamoto S, Fujikado T, Tano Y: Mutations in the 11-cis retinol dehydrogenase gene in Japanese patients with fundus albipunctatus. Invest Ophthalmol Vis Sci 2000;41:3933–3935.
  19. Kuroiwa S, Kikuchi T, Yoshimura N: A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. Am J Ophthalmol 2000;130:672–675.
  20. Cideciyan AV, Haeseleer F, Fariss RN, Aleman TS, Jang GF, Verlinde CL, Marmor MF, Jacobson SG, Palczewski K: 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.
  21. Wada Y, Abe T, Sato H, Tamai M: A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. Arch Ophthalmol 2001;119:1059–1063.
  22. Driessen CA, Janssen BP, Winkens HJ, Kuhlmann LD, Van Vugt AH, Pinckers AJ, Deutman AF, Janssen JJ: Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. Ophthalmology 2001;108:1479–1484.
  23. Miyazaki K, Murakami A, Imamura S, Yoshii M, Ishida M, Washio N, Okisaka S: A case of fundus albipunctatus with a retinol dehydrogenase 5 gene mutation in a child. Nippon Ganka Gakkai Zasshi 2001;105:530–534.
  24. Nakamura M, Miyake Y: Macular dystrophy in a 9-year-old boy with fundus albipunctatus. Am J Ophthalmol 2002;133:278–280.
  25. Miyake Y, Shiroyama N, Sugita S, Horiguchi M, Yagasaki K: Fundus albipunctatus associated with cone dystrophy. Br J Ophthalmol 1992;76:375–379.
  26. Flynn MF, Bohnert D: Fundus albipunctatus and other flecked retina syndromes. J Am Optom Assoc 1999;70:571–580.
  27. Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR: Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet 2001;59:424–429.
  28. Maw MA, Kennedy B, Knight A, Bridges R, Roth KE, Mani EJ, Mukkadan JK, Nancarrow D, Crab JW, Denton MJ: Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat Genet 1997;17:198–200.
  29. Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N: Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Am J Hum Genet 2002;70:955–964.


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