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Mutation Database
 Mutations of the 11-cis Retinol Dehydrogenase Gene

Recent update from: 14.09.2002

Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification
& Remarks		 Mutation Database OMIM Reference
Fundus albipunctatus Gly 35 Ser GGC - AGC 103 2
Compound:
  • 1085insC/delGAAG


(9)
Fundus albipunctatus 128delT CGC CTT - CGC C_T 128 2
Homozygous

(2)
Fundus albipunctatus 216insGTGG GTG GCC - GTG GCG TGG C 216 2
Compound:
  • C267W


(2)
Fundus albipunctatus Ser 73 Phe TCC - TTC 218 2
Mutation displays reduction in 11cRAl oxidation CM991094 601617-0002 (10)
Fundus albipunctatus Gly 107 Arg GGT - CGT 319 3
Compound:
  • 928delCinsGAAG
Additionally CRD

(7)
Fundus albipunctatus Val 132 Met GTG - ATG 394 3
Compound:
  • R280H


(7)
Fundus albipunctatus Arg 157 Trp CGG - TGG 468 2
  • 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 Cys 267 Trp TGC - TGG 501 5
Compound:
  • 216ins4bp


(2)
Fundus albipunctatus Val 177 Gly GTC - GGC 530 3
Compound:
  • R280H

601617-0005 (5)
Fundus albipunctatus Gly 238 Trp GGG - TGG 712 4
Homozygous
Mutation displays reduction in 11cRAl oxidation 		CM991095 601617-0001 (10)
(3)
Fundus albipunctatus 712insG TAT GGG GGG GCC - TAT GGG GGG GGC C 712 4
Compound:
  • Y281H

Additionally CRD

(7)
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
CM993460 601617-0003 (3)
(5)
(6)
(7)
Fundus albipunctatus Tyr 281 His CTA - CCA 841 5
Compound:
  • 719insG
Additionally CRD

(7)
Fundus albipunctatus Ala 294 Pro GCC - CCC 880 5
Compound:
  • R280H
CM993461 601617-0004 (3)
Fundus albipunctatus 928delCinsGAAG GTC CTT - GTC GAA GTT 928 5
Compound:
  • G107R
  • R280H
  • G35S
4 patients with additional CRD

(7)
(9)
Fundus albipunctatus + COD Gly 35 Ser GGC - AGC 103 2
Homozygous
  • Consanguineous
  • First Gly of a co-factor-binding domain


(8)
Polymorphism Ile 33 Val ATC - GTC 097 2



(10)
Polymorphism Ser 141 Ser ATC - ATT 423 3



(10)
Polymorphism Val 200 Val
600 4



(4)
(10)
Sequence




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.


References

  1. Cideciyan,A.V., Haeseleer,F., Aleman,T.S., Jang,G., Verlinde,C.L.M.J., Marmor,M.F., Jacobson,S.G., and Palczewski,K. Rod plateaux during dark adaptation in fundus albipunctatus caused by a null mutation in the 11-cis-retinol dehydrogenase gene. 2000; Invest.Ophthalm.Vis.Sci. 41: S532
    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-ci-Retinol Dehydrogenase In Patients With Age Related Macular Degeneration. 1997; Invest.Ophthalmol.Vis.Sci. 38: S800
    Goto Top

  5. 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

  6. 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

  7. 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

  8. 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

  9. Wada,Y., Nakazawa,M., Abe,T., Fuse,N., and Tamai,M. Clinical variability of patients associated with gene mutations of visual cycle protein; Arrestin, RPE65 and RDH5 genes. 2000; Invest.Ophthalm.Vis.Sci. 41: S617
    Goto Top

  10. 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

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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