Retina International‘s

Scientific Newsletter


Mutation Database
 Mutations of the 11-cis Retinol Dehydrogenase Gene (RDH5)

Recent update from: 20.02.05

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Sequence

0 0
The sequence data are adjusted to a sequence given in a WORD file which can be downloaded here. Nucleotides are counted from the translation start site as used in most of the recent publications of RDH5 mutations.





Polymorphism Ile 33 Val ATC/GTC 097 2




(14)

Fundus albipunctatus Gly 35 Ser GGC>AGC 103 2
Compound:
  • 1085insC/delGAAG

goto HGMD
(13)

Fundus albipunctatus + COD Gly 35 Ser GGC>AGC 103 2
Homozygous
  • Consanguineous
  • First Gly of a co-factor-binding domain

goto HGMD
(8)

Fundus albipunctatus 128delT CGC CTT>CGC C_T 128 2
Homozygous
goto HGMD
(2)

Fundus albipunctatus 216insGTGG GTG GCC>GTG GCG TGG C 216 2
Compound:
  • C267W

goto HGMD
(2)

Fundus albipunctatus Ser 73 Phe TCC>TTC 218 2
Mutation displays reduction in 11cRAl oxidation 2909 goto HGMD 601617-0002 (14)

Fundus albipunctatus Gly 107 Arg GGT>CGT 319 3
Compound:
  • 928delCinsGAAG
Additionally CRD
goto HGMD
(8)

Fundus albipunctatus and sectorial RP Gly 107 Arg GGT>CGT 319 3
Homozygous Japanese

(11)

Macular Dystrophy Gly 107 Arg GGT>CGT 319 3
Homozygous Japanese

(5)

Fundus albipunctatus Val 132 Met GTG>ATG 394 3
Compound:
  • R280H
Japanese 		goto HGMD
(8)

Fundus albipunctatus + COD Val 132 Met GTG>ATG 394 3
Compound:
  • R280H
Japanese 		goto HGMD
(9)

Polymorphism Ser 141 Ser ATC/ATT 423 3




(14)

Fundus albipunctatus Arg 157 Trp CGG>TGG 468 3
  • Null mutation
  • Rod and cone activation sensivity is not affected
  • Cone adaptation is slow, recovery biphasic
  • 0.5% bleach causes monophasic recovery of normal type
  • Strong bleaches in partial-bleaches produce delayed recovery


(1)

Fundus albipunctatus + Macular Atrophy Val 164 Phe GTC>TTC 490 3
Homozygous
dots fade
goto HGMD
(15)

Fundus albipunctatus Arg 167 His CGC>CAC 500 3
Compound:
  • 928delCinsGAAG

goto HGMD
(12)

Fundus albipunctatus Cys 267 Trp TGC>TGG 501 5
Heterozygous Compound:
  • 216ins4bp

goto HGMD
(2)

Fundus albipunctatus Val 177 Gly GTC>GGC 530 3
Compound:
  • R280H
Japanese 		goto HGMD 601617-0005 (6)

Polymorphism Val 200 Val
600 4




(4)
(14)

Fundus albipunctatus 712insG TAT GGG GGG GCC>TAT GGG GGG GGC C 712 4
Compound:
  • Y281H

Additionally CRD
goto HGMD
(8)

Fundus albipunctatus Gly 238 Trp GGG>TGG 712 4
Homozygous
Mutation displays reduction in 11cRAl oxidation E487 		goto HGMD 601617-0001 (14)
(3)

Fundus albipunctatus Arg 280 His CGC>CAC 839 5
Homozygous:
  • No visual field loss
  • Low ERG amplitude
  • ERG recovery after 3 h
  • DA: Elevated threshold for rod adaptation
Compound:
  • A294P
  • V132M
  • 928delCinsGAAG
  • V177G
1006
Japanese 		goto HGMD 601617-0003 (3)
(6)
(7)
(8)
(11)

Fundus albipunctatus + COD Arg 280 His CGC>CAC 839 5
Heterozygous
Compound:
  • V132M
1006
Japanese 		goto HGMD 601617-0003 (9)

Macular Dystrophy Tyr 281 His CTA>CCA 841 5
Compound:
  • 928delCinsGAAG

goto HGMD
(10)

Fundus albipunctatus Tyr 281 His CTA>CCA 841 5
Compound:
  • 719insG
Additionally CRD
goto HGMD
(8)

Fundus albipunctatus Ala 294 Pro GCC>CCC 880 5
Compound:
  • R280H
1006 		goto HGMD 601617-0004 (3)

Fundus albipunctatus 928delCinsGAAG GTC CTT>GTC GAA GTT 928 5
Compound:
  • G107R
  • R280H
  • G35S
  • R167H
4 patients with additional CRD
Patient in long-term follow up Japanese 		goto HGMD
(8)
(12)
(11)

Macular Dystrophy 928delCinsGAAG GTC CTT>GTC GAA GTT 928 5
Compound:
  • Y281H



(10)

References

  1. Cideciyan,A.V., Haeseleer,F., Fariss,R.N., Aleman,T.S., Jang,G.F., Verlinde,C.L., Marmor,M.F., Jacobson,S.G., and Palczewski,K. Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man. 2000; Vis.Neurosci. 17: 667-678.
    Link to PubMed

    Goto Top
  2. Driessen,C.A., Janssen,B.P., Winkens,H.J., Kuhlmann,L.D., van Vugt,A.H., Pinckers,A.J., Deutman,A.F., and Janssen,J.J. Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. 2001; Ophthalmology. 108: 1479-1484.
    Link to PubMed

    Goto Top
  3. Gonzalez-Fernandez,F., Kurz,D., Bao,Y., Newman,S., Conway,B.P., Young,J.E., Han,D.P., and Khani,S.C. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. 1999; Mol.Vis. 5: 41
    Link to PubMed

    Goto Top
  4. Harris,E.W., Seddon,J.M., and Dryja,T.P. Analysis Of The Gene Encoding 11-cis-Retinol Dehydrogenase In Patients With Age Related Macular Degeneration. 1997; Invest.Ophthalmol.Vis.Sci. 38: S800
    Goto Top
  5. Hotta,K., Nakamura,M., Kondo,M., Ito,S., Terasaki,H., Miyake,Y., and Hida,T. Macular dystrophy in a Japanese family with fundus albipunctatus. 2003; Am.J.Ophthalmol. 135: 917-919.
    Link to PubMed

    Goto Top
  6. Kuroiwa,S., Kikuchi,T., and Yoshimura,N. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. 2000; Am.J.Ophthalmol. 130: 672-675.
    Link to PubMed

    Goto Top
  7. Miyazaki,K., Murakami,A., Imamura,S., Yoshii,M., Ishida,M., Washio,N., and Okisaka,S. [A case of fundus albipunctatus with a retinol dehydrogenase 5 gene mutation in a child]. 2001; Nippon Ganka Gakkai Zasshi. 105: 530-534.
    Link to PubMed
    Goto Top
  8. Nakamura,M., Hotta,Y., Tanikawa,A., Terasaki,H., and Miyake,Y. A high association with cone dystrophy in fundus albipunctatus caused by mutations of the RDH5 gene. 2000; Invest.Ophthalmol.Vis.Sci. 41: 3925-3932.
    Link to PubMed

    Goto Top
  9. Nakamura,M., Lin,J., and Miyake,Y. Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy. 2004; Arch.Ophthalmol. 122: 1203-1207.
    Link to PubMed
    Goto Top
  10. Nakamura,M. and Miyake,Y. Macular dystrophy in a 9-year-old boy with fundus albipunctatus. 2002; Am.J.Ophthalmol. 133: 278-280.
    Link to PubMed

    Goto Top
  11. Sato,M., Oshika,T., Kaji,Y., and Nose,H. A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa. 2004; Ophthalmic Res. 36: 43-50.
    Link to PubMed
    Goto Top
  12. Sekiya,K., Nakazawa,M., Ohguro,H., Usui,T., Tanimoto,N., and Abe,H. Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene. 2003; Arch.Ophthalmol. 121: 1057-1059.
    Link to PubMed
    Goto Top
  13. Wada,Y., Abe,T., Sato,H., and Tamai,M. A novel Gly35Ser mutation in the RDH5 gene in a Japanese family with fundus albipunctatus associated with cone dystrophy. 2001; Arch.Ophthalmol. 119: 1059-1063.
    Link to PubMed

    Goto Top
  14. Yamamoto,H., Simon,A., Eriksson,U., Harris,E., Berson,E.L., and Dryja,T.P. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. 1999; Nat.Genet. 22: 188-191.
    Link to PubMed

    Goto Top
  15. Yamamoto,H., Yakushijin,K., Kusuhara,S., Escano,M.F., Nagai,A., and Negi,A. A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. 2003; Am.J.Ophthalmol. 136: 572-574.
    Link to PubMed
    Goto Top
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Dr. rer. medic. Markus Preising, Dipl.Biol.
Molecular Genetics Laboratory
Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics
University of Regensburg
Head: Prof. Dr. med. Birgit Lorenz