Retina International‘s Scientific Newsletter
	Disease Database Retinal and Macular Dystrophy Loci

Recent update from: 29.11.2006

MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial

References

1. Allikmets,R. Further evidence for an association of ABCR alleles with age-related macular degeneration. The International ABCR Screening Consortium. 2000; Am.J.Hum.Genet. 67: 487-491.
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2. Allikmets,R., Shroyer,N.F., Singh,N., Seddon,J.M., Lewis,R.A., Bernstein,P.S., Peiffer,A., Zabriskie,N.A., Li,Y., Hutchinson,A., Dean,M., Lupski,J.R., and Leppert,M. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 1997; Science. 277: 1805-1807.
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3. Allikmets,R., Singh,N., Sun,H., Shroyer,N.F., Hutchinson,A., Chidambaram,A., Gerrard,B., Baird,L., Stauffer,D., Peiffer,A., Rattner,A., Smallwood,P., Li,Y., Anderson,K.L., Lewis,R.A., Nathans,J., Leppert,M., Dean,M., and Lupski,J.R. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 1997; Nat.Genet. 15: 236-246.
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4. Ayyagari,R., Mandal,M.N., Karoukis,A.J., Chen,L., McLaren,N.C., Lichter,M., Wong,D.T., Hitchcock,P.F., Caruso,R.C., Moroi,S.E., Maumenee,I.H., and Sieving,P.A. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. 2005; Invest Ophthalmol.Vis.Sci. 46: 3363-3371. Goto Top
   
5. Burstedt,M.S., Forsman-Semb,K., Golovleva,I., Janunger,T., Wachtmeister,L., and Sandgren,O. Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. 2001; Arch.Ophthalmol. 119: 260-267.
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6. Burstedt,M.S., Sandgren,O., Holmgren,G., and Forsman-Semb,K. Bothnia dystrophy caused by mutations in the cellular retinaldehyde- binding protein gene (RLBP1) on chromosome 15q26. 1999; Invest.Ophthalmol.Vis.Sci. 40: 995-1000.
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7. Crabb,J.W., Andrabi,K., Shaw,N., Wu,Z., Bhattacharya,S., West,K.A., Burstedt,M., Sandgren,O., and Golovleva,I. The R233W Mutation In Bothnia Dystrophy Does Not Abolish Cralbp Retinoid Binding. 2001; Invest.Ophthalmol.Vis.Sci. 42: S655 Goto Top
   
8. Donoso,L.A., Frost,A.T., Stone,E.M., Weleber,R.G., MacDonald,I.M., Hageman,G.S., Cibis,G.W., Ritter,R., and Edwards,A.O. Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity. 2001; Arch.Ophthalmol. 119: 564-570.
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9. Edwards,A., Klein,M.L., Berselli,C.B., Weleber,R.G., Rust,K., Wirtz,M.K., Hejtmancik,J.F., and Acott,T.S. Refinement of the locus for malattia leventinese: An autosomal dominant form of macular degeneration with a radial drusen phenotype. 1997; Invest.Ophthalmol.Vis.Sci. 38: S1140 Goto Top
   
10. Edwards,A.O., Donoso,L.A., and Ritter,R., III. A novel gene for autosomal dominant stargardt-like macular dystrophy with homology to the sur4 protein family. 2001; Invest.Ophthalmol.Vis.Sci. 42: 2652-2663.
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11. Edwards,A.O., Klein,M.L., Berselli,C.B., Hejtmancik,J.F., Rust,K., Wirtz,M.K., Weleber,R.G., and Acott,T.S. Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen. 1998; Am.J.Ophthalmol. 126: 417-424.
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12. Edwards,A.O., Ritter,R., III, Abel,K.J., Manning,A., Panhuysen,C., and Farrer,L.A. Complement factor H polymorphism and age-related macular degeneration. 2005; Science. 308: 421-424. Goto Top
    
13. Eichers,E.R., Green,J.S., Stockton,D.W., Jackman,C.S., Whelan,J., McNamara,J.A., Johnson,G.J., Lupski,J.R., and Katsanis,N. Newfoundland Rod-Cone Dystrophy, an Early-Onset Retinal Dystrophy, Is Caused by Splice-Junction Mutations in RLBP1. 2002; Am.J.Hum.Genet. 70: 955-964.
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14. Felbor,U., Doepner,D., Schneider,U., Zrenner,E., and Weber,B.H. Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. 1997; Invest.Ophthalmol.Vis.Sci. 38: 1054-1059.
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15. Felbor,U., Suvanto,E.A., Forsius,H.R., Eriksson,A.W., and Weber,B.H. Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. 1997; Am.J.Hum.Genet. 60: 57-62.
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16. Ferrell,R.E., Hittner,H.M., and Antoszyk,J.H. Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus. 1983; Am.J.Hum.Genet. 35: 78-84.
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17. Fossdal,R., Magnusson,L., Weber,J.L., and Jensson,O. Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15. 1995; Hum Mol.Genet. 4: 479-483. Goto Top
    
18. Gerber,S., Rozet,J.M., Bonneau,D., Souied,E., Camuzat,A., Dufier,J.L., Amalric,P., Weissenbach,J., Munnich,A., and Kaplan,J. A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13. 1995; Am.J.Hum.Genet. 56: 396-399.
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19. Granse,L., Abrahamson,M., Ponjavic,V., and Andreasson,S. Electrophysiological findings in two young patients with Bothnia dystrophy and a mutation in the RLBP1 gene. 2001; Ophthalmic Genet. 22: 97-105. Goto Top
    
20. Gregory,C.Y., Evans,K., Wijesuriya,S.D., Kermani,S., Jay,M.R., Plant,C., Cox,N., Bird,A.C., and Bhattacharya,S.S. The gene responsible for autosomal dominant Doyne's honeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. 1996; Hum.Mol.Genet. 5: 1055-1059.
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21. Griesinger,I.B., Sieving,P.A., and Ayyagari,R. Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. 2000; Invest.Ophthalmol.Vis.Sci. 41: 248-255.
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22. Haider,M.Z., Devarajan,L.V., Al Essa,M., Srivastva,B.S., Kumar,H., Azad,R., and Rashwan,N. Missense mutations in norrie disease gene are not associated with advanced stages of retinopathy of prematurity in Kuwaiti arabs. 2000; Biol.Neonate. 77: 88-91.
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23. Haines,J.L., Hauser,M.A., Schmidt,S., Scott,W.K., Olson,L.M., Gallins,P., Spencer,K.L., Kwan,S.Y., Noureddine,M., Gilbert,J.R., Schnetz-Boutaud,N., Agarwal,A., Postel,E.A., and Pericak-Vance,M.A. Complement factor H variant increases the risk of age-related macular degeneration. 2005; Science. 308: 419-421. Goto Top
    
24. Hayward,C., Shu,X., Cideciyan,A.V., Lennon,A., Barran,P., Zareparsi,S., Sawyer,L., Hendry,G., Dhillon,B., Milam,A.H., Luthert,P.J., Swaroop,A., Hastie,N.D., Jacobson,S.G., and Wright,A.F. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. 2003; Hum Mol.Genet. 12: 2657-2667. Goto Top
    
25. Heon,E., Piguet,B., Munier,F., Sneed,S.R., Morgan,C.M., Forni,S., Pescia,G., Schorderet,D., Taylor,C.M., Streb,L.M., Wiles,C.D., Nishimura,D.Y., Sheffield,V.C., and Stone,E.M. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. 1996; Arch.Ophthalmol. 114: 193-198.
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26. Hoyng,C.B., Deutman,A.F., van de Pol,D., Knoers,N., Pinckers,A., and Cremers,F.P.M. Genetic linkage of two different phenotypes of rod and cone dystrophy in a family with pseudo dominant inheritance to 1p21-p13. 1997; Invest.Ophthalmol.Vis.Sci. 38: S795 Goto Top
    
27. Hoyng,C.B., Poppelaars,F., van de Pol,T.J., Kremer,H., Pinckers,A.J., Deutman,A.F., and Cremers,F.P. Genetic fine mapping of the gene for recessive Stargardt disease. 1996; Hum.Genet. 98: 500-504.
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28. Jakobsdottir,J., Conley,Y.P., Weeks,D.E., Mah,T.S., Ferrell,R.E., and Gorin,M.B. Susceptibility genes for age-related maculopathy on chromosome 10q26. 2005; Am.J.Hum.Genet. 77: 389-407. Goto Top
    
29. Kajiwara,K., Sandberg,M.A., Berson,E.L., and Dryja,T.P. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. 1993; Nat.Genet. 3: 208-212.
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30. Kaplan,J., Gerber,S., Larget Piet,D., Rozet,J.M., Dollfus,H., Dufier,J.L., Odent,S., Postel Vinay,A., Janin,N., and Briard,M.L. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. 1993; Nat.Genet. 5: 308-311.
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31. Kaplan,J., Gerber,S., Takezawa,S., Santos,L., Rozet,J.M., Lopes,L., Perrault,I., Ducroq,D., and Yu-Umesuno,R. Retinitis pigmentosa of crypto jews from Portugal is ascribed to a homozygote mutation in the photoreceptor cell-specific nuclear receptor gene (PNR) hindering the dimerization of the protein. 2000; Invest.Ophthalmol.Vis.Sci. 41: S94 Goto Top
    
32. Keen,T.J., Inglehearn,C.F., Kim,R., Bird,A.C., Bhattacharya,S.S., and Bhattacharya,S. Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene. 1994; Hum.Mol.Genet. 3: 367-368.
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33. Kelsell,R.E., Godley,B.F., Evans,K., Tiffin,P.A., Gregory,C.Y., Plant,C., Moore,A.T., Bird,A.C., and Hunt,D.M. Localization of the gene for progressive bifocal chorioretinal atrophy (PBCRA) to chromosome 6q. 1995; Hum.Mol.Genet. 4: 1653-1656.
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34. Kenealy,S.J., Schmidt,S., Agarwal,A., Postel,E.A., De La Paz,M.A., Pericak-Vance,M.A., and Haines,J.L. Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26. 2004; Mol.Vis. 10:57-61.: 57-61. Goto Top
    
35. Klein,R.J., Zeiss,C., Chew,E.Y., Tsai,J.Y., Sackler,R.S., Haynes,C., Henning,A.K., Sangiovanni,J.P., Mane,S.M., Mayne,S.T., Bracken,M.B., Ferris,F.L., Ott,J., Barnstable,C., and Hoh,J. Complement factor H polymorphism in age-related macular degeneration. 2005; Science. 308: 385-389. Goto Top
    
36. Kniazeva,M., Chiang,M.F., Morgan,B., Anduze,A.L., Zack,D.J., Han,M., and Zhang,K. A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. 1999; Am.J.Hum.Genet. 64: 1394-1399.
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37. Kniazeva,M., Cutting,G.R., Garibaldi,D., Zack,D.J., Han,M., and Zhang,K. Autosomal dominant Stargardt macular dystrophy: clinical features and genetic linkage of a three generation family. 1998; Am.J.Hum.Genet. 63: A295 Goto Top
    
38. Kremer,H., Pinckers,A., van den Helm,B., Deutman,A.F., Ropers,H.H., and Mariman,E.C. Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p. 1994; Hum.Mol.Genet. 3: 299-302.
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39. Kumar Singh,R., Jordan,S.A., Farrar,G.J., and Humphries,P. Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus. 1991; Nucleic.Acids.Res. 19: 5800
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40. Lotery,A.J., Ennis,K.T., Silvestri,G., Nicholl,S., McGibbon,D., Collins,A.D., and Hughes,A.E. Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p. 1996; Hum.Mol.Genet. 705-708. Goto Top
    
41. Majewski,J., Schultz,D.W., Weleber,R.G., Schain,M.B., Edwards,A.O., Matise,T.C., Acott,T.S., Ott,J., and Klein,M.L. Age-Related Macular Degeneration-a Genome Scan in Extended Families. 2003; Am.J.Hum.Genet. 73: 540-550.
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42. Marmorstein,L.Y., Munier,F.L., Arsenijevic,Y., Schorderet,D.F., McLaughlin,P.J., Chung,D., Traboulsi,E., and Marmorstein,A.D. Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. 2002; Proc.Natl.Acad.Sci.U.S.A. 99: 13067-13072.
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43. Maw,M.A., Corbeil,D., Koch,J., Hellwig,A., Wilson-Wheeler,J.C., Bridges,R.J., Kumaramanickavel,G., John,S., Nancarrow,D., Röper,K., Weigmann,A., Huttner,W.B., and Denton,M.J. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. 2000; Hum.Mol.Genet. 9: 27-34. Goto Top
    
44. Michaelides,M., Johnson,S., Poulson,A., Bradshaw,K., Bellmann,C., Hunt,D.M., and Moore,A.T. An Autosomal Dominant Bull's-Eye Macular Dystrophy (MCDR2) that Maps to the Short Arm of Chromosome 4. 2003; Invest.Ophthalmol.Vis.Sci. 44: 1657-1662.
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45. Michaelides,M., Johnson,S., Tekriwal,A.K., Holder,G.E., Bellmann,C., Kinning,E., Woodruff,G., Trembath,R.C., Hunt,D.M., and Moore,A.T. An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5. 2003; Invest.Ophthalmol.Vis.Sci. 44: 2178-2183. Goto Top
    
46. Morimura,H., Berson,E.L., and Dryja,T.P. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde- binding protein in a form of retinitis punctata albescens. 1999; Invest.Ophthalmol.Vis.Sci. 40: 1000-1004.
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47. Nichols,B.E., Bascom,R., Litt,M., McInnes,R., Sheffield,V.C., and Stone,E.M. Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1. 1994; Am.J.Hum.Genet. 54: 95-103.
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48. Nishiguchi,K.M., Berson,E.L., and Dryja,T.P. Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases. 2004; Mol.Vis. 10:62-4.: 62-64. Goto Top
    
49. Oudet,C., Weber,C., Kaplan,J., Segues,B., Croquette,M.F., Roman,E.O., and Hanauer,A. Characterisation of a highly polymorphic microsatellite at the DXS207 locus: confirmation of very close linkage to the retinoschisis disease gene. 1993; J.Med.Genet. 30: 300-303.
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50. Petrukhin,K., Koisti,M.J., Bakall,B., Li,W., Xie,G., Marknell,T., Sandgren,O., Forsman,K., Holmgren,G., Andreasson,S., Vujic,M., Bergen,A.A., McGarty Dugan,V., Figueroa,D., Austin,C.P., Metzker,M.L., Caskey,C.T., and Wadelius,C. Identification of the gene responsible for Best macular dystrophy. 1998; Nat.Genet. 19: 241-247. Goto Top
    
51. Ravia,Y., Braier Goldstein,O., Bat Miriam,K.M., Erlich,S., Barkai,G., and Goldman,B. X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus. 1993; Hum.Mol.Genet. 2: 1295-1297.
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52. Ringpfeil,F., Lebwohl,M.G., Christiano,A.M., and Uitto,J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. 2000; Proc.Natl.Acad.Sci.U.S.A. 97: 6001-6006.
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53. Ringpfeil,F., Nakano,A., Uitto,J., and Pulkkinen,L. Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum. 2001; Am.J.Hum.Genet. 68: 642-652. Goto Top
    
54. Rivera,A., Fisher,S.A., Fritsche,L.G., Keilhauer,C.N., Lichtner,P., Meitinger,T., and Weber,B.H. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. 2005; Hum.Mol.Genet. 14: 3227-3236. Goto Top
    
55. Sato,M., Nakazawa,M., Usui,T., Tanimoto,N., Abe,H., and Ohguro,H. Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. 2005; Graefes Arch.Clin.Exp.Ophthalmol. 243: 235-242. Goto Top
    
56. Sauer,C.G., Gehrig,A., Warneke Wittstock,R., Marquardt,A., Ewing,C.C., Gibson,A., Lorenz,B., Jurklies,B., and Weber,B.H. Positional cloning of the gene associated with X-linked juvenile retinoschisis. 1997; Nat.Genet. 17: 164-170.
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57. Schultz,D.W., Klein,M.L., Humpert,A.J., Luzier,C.W., Persun,V., Schain,M., Mahan,A., Runckel,C., Cassera,M., Vittal,V., Doyle,T.M., Martin,T.M., Weleber,R.G., Francis,P.J., and Acott,T.S. Analysis of the ARMD1 locus: Evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. 2003; Hum.Mol.Genet. 12: 3315-3323. Goto Top
    
58. Seddon,J.M., Santangelo,S.L., Book,K., Chong,S., and Cote,J. A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. 2003; Am.J.Hum.Genet. 73: 780-790. Goto Top
    
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60. Small,D.H. The role of the amyloid protein precursor (APP) in Alzheimer's disease: does the normal function of APP explain the topography of neurodegeneration? 1998; Neurochem.Res. 23: 795-806.
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61. Small,K.W., Puech,B., Mullen,L., and Yelchits,S. North carolina macular dystrophy phenotype in france maps to the MCDR1 Locus. 1997; Mol.Vis. 3: 1 Free Online Source Goto Top
    
62. Small,K.W., Sanchez,A.R., Yelchitis,S.V., Kelley,K.C., Jimenez-Morillas,M.E., Mullen,L.M., Stalvey,M.S., Dickel,C.D., Rao,N., and Pettenati,M.J. Physical mapping of the MCDR1 (North Carolina Macular Dystrophy) locus. 1994; Invest.Ophthalmol.Vis.Sci. 35 (Suppl.): 1717 Goto Top
    
63. Small,K.W., Weber,J., Roses,A., and Pericak Vance,P. North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2. 1993; Ophthalmic Paediatr.Genet. 14: 143-150.
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64. Souied,E., Soubrane,G., Benlian,P., Coscas,G.J., Gerber,S., Munnich,A., and Kaplan,J. Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 1996; Am.J.Ophthalmol. 121: 19-25.
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65. Sprecher,E., Bergman,R., Richard,G., Lurie,R., Shalev,S., Petronius,D., Shalata,A., Anbinder,Y., Leibu,R., Perlman,I., Cohen,N., and Szargel,R. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. 2001; Nat.Genet. 29: 134-136.
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66. Stone,D.L., Slavotinek,A., Bouffard,G.G., Banerjee-Basu,S., Baxevanis,A.D., Barr,M., and Biesecker,L.G. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. 2000; Nat.Genet. 25: 79-82.
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67. Stone,E.M., Braun,T.A., Russell,S.R., Kuehn,M.H., Lotery,A.J., Moore,P.A., Eastman,C.G., Casavant,T.L., and Sheffield,V.C. Missense variations in the fibulin 5 gene and age-related macular degeneration. 2004; N.Engl.J Med. 351: 346-353. Goto Top
    
68. Stone,E.M., Lotery,A.J., Munier,F.L., Heon,E., Piguet,B., Guymer,R.H., Vandenburgh,K., Cousin,P., Nishimura,D., Swiderski,R.E., Silvestri,G., Mackey,D.A., Hageman,G.S., Bird,A.C., Sheffield,V.C., and Schorderet,D.F. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. 1999; Nat.Genet. 22: 199-202.
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69. Stone,E.M., Nichols,B.E., Kimura,A.E., Weingeist,T.A., Drack,A., and Sheffield,V.C. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q. 1994; Arch.Ophthalmol. 112: 765-772.
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70. Stöhr,H., Marquardt,A., Rivera,A., Cooper,P.R., Nowak,N.J., Shows,T.B., Gerhard,D.S., and Weber,B.H. A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1. 1998; Genome Res. 8: 48-56.
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71. Subrayan,V., Morris,B., Armbrecht,A.M., Wright,A.F., and Dhillon,B. Long anterior lens zonules in late-onset retinal degeneration (L-ORD). 2005; Am.J.Ophthalmol. 140: 1127-1129. Goto Top
    
72. Sun,H. and Nathans,J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. 1997; Nat.Genet. 17: 15-16.
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73. Van de Vosse,E., Bergen,A.A.B., Meershoek,E.J., Oosterwijk,J.C., Gregory,S., Bakker,B., Weissenbach,J., Coffey,A.J., van Ommen,G.J., and Den Dunnen,J.T. An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 1996; Eur.J.Hum.Genet. 4: 101-104.
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74. van Lith-Verhoeven,J.J., Hoyng,C.B., van den,H.B., Deutman,A.F., Brink,H.M., Kemperman,M.H., de Jong,W.H., Kremer,H., and Cremers,F.P. The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. 2004; Invest.Ophthalmol.Vis.Sci. 45: 30-35. Goto Top
    
75. Weber,B.H., Vogt,G., Pruett,R.C., Stöhr,H., and Felbor,U. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. 1994; Nat.Genet. 8: 352-356.
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76. Weber,B.H., Walker,D., and Muller,B. Molecular evidence for non-penetrance in Best's disease. 1994; J.Med.Genet. 31: 388-392.
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77. Weber,J.L. and May,P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. 1989; Am.J.Hum.Genet. 44: 388-396.
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78. Weeks,D.E., Conley,Y.P., Mah,T.S., Paul,T.O., Morse,L., Ngo-Chang,J., Dailey,J.P., Ferrell,R.E., and Gorin,M.B. A full genome scan for age-related maculopathy. 2000; Hum.Mol.Genet. 9: 1329-1349. Goto Top
    
79. 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.
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Contact the editor	Return to Disease Database Page	This site is maintained and edited by 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