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Disease Database

Retinal and Macular Dystrophies

Recent update from: 24.03.2010

This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol.
Laboratory of Molecular Ophthalmology
Department of Opthalmology
Justus-Liebig-University, Giessen, Germany
Head: Prof. Dr. med. Birgit Lorenz

This site includes links which are off influence of Retina International and do not neccessarily reflect the opinion of Retina International. Therefore, we refrain from any responsibility for these external links.

Disease Gene locus MIM Gene Gene MIM MoI Assignment

Linked Marker [cM] Remarks References
Dominant drusen with macular dystrophy

ad 6q14

[D6S1609- (D6S1652 (lod 1.16)- D6S1004- D6S2258)- D6S1644- D6S1613- D6S1570- D6S1056- D6S1054- D6S424- D6S284- D6S249 (lod 3.17)- D6S475- D6S1717- D6S1671- D6S283 16.1 cM]
Fundus Xerophthalmicus

RBP4 180250 ar 10q24


Rod/Cone Dystrophy, pseudo dominant

ad 1p21-13

D1S406- D1S236
Retinal pattern dystrophy
179605 PRPH2 179605 ad 6p12

Autosomal dominant Stargardt-like Macular Dystrophy

ad 6q16

D6S430- D6S313- D6S1681- D6S280- D6S286- D6S460- D6S1609- D6S1601- D6S462- D6S275- D6S417- D6S1720- D6S300
  • 7 North American were joined to one great family
  • Link(13)
    Atrophia Areata AA 108985 TEAD1 189967 ad 11p15

    D11S1323, D11S902
    Autosomal Dominant Macular Atrophy adMD
    ELOLV4 605512 ad 6q14

    D6S430- D6S1557- D6S1661- D6S280- D6S1589 [-D6S257- D6S430- D6S313- D6S1625- D6S1613- [-D6S1707- D6S445- D6S1634-D6S1609- D6S1595- D6S1601- D6S1644- D6S613- D6S1570- D6S1631]- D6S275- [D6S300- D6S1716]- D6S475- D6S301
  • Resembles STGD3 without dark choroid in flourescein angiogram
  • Exclusion of CORD7 and MCDR1/PBCRA as loci
  • (31)
    Autosomal Dominant Retinal Dystrophy adRD
    GUCA1B 602275 ad 6p21.1

    Autosomal dominant vitreoretinochoroidopathy ADVIRC 193220 BEST1 607854 ad 11q12-13.1

    UGB- D11S4076- D11S1765
    Autosomal Recessive Bestrophinopathy ARB 611809 BEST1 607854 ar 11q12-13.1

    UGB- D11S4076- D11S1765
    Age-related Macular Dystrophy ARMD 603075 CFB 138470 ar 6p21.3

    Age-related Macular Dystrophy ARMD 603075 TLR3 603029 ar 4q35.1

    Age-related Macular Dystrophy ARMD 603075 C2 217000 ar 6p21.3

    Age-related Macular Dystrophy ARMD 1 603075 HMCN1,FBLN6 608548 ar 1q24-q25

    LAMB2- D1S158- D1S2701- D1S2127- D1S240- D1S2711- D1S444- D1S254- D1S191- D1S2848- D1S1194- HEM- D1S2138- D1S3460-D1S202- D1S1642- D1S518
    Age-related Macular Dystrophy ARMD 10 611488 TLR4 603030 ar 9q32-33

    Age-related Macular Dystrophy ARMD 2 153800 ABCR 601691 ar 1p22-21

    D1S406- D1S236
  • 1218 pat. tested against 1258 controls (both N. American and W. Europe origin)
  • Tested G1961E and D2177N
  • Found G1961: 19/1218 pat. & 4/1258 cont.
  • Found D2177N: 21/1189 pat. & 8/1258 cont.
  • Link(3)
    Age-related Macular Dystrophy ARMD 3 608895 FBLN5 604580 ar 14q32.1

    Age-related Macular Dystrophy ARMD 4 610698 CFH1 134370 ar 1q32

    Age-related Macular Dystrophy ARMD 5 603075 ERCC6 609413 ar 10q11

    Age-related Macular Dystrophy ARMD 6 603075 QRX,RAXL1 610362 ar 19p13.3

    Age-related Macular Dystrophy ARMD 7 610149 HTRA1 602194 ar 10q26

    D10S12307- D10S1230
    Age-related Macular Dystrophy ARMD 8 611313 LOC387715,ARMS2 611313 ar 10q25.3-q26.2

    Age-related Macular Dystrophy ARMD 9 611378 C3 120700 ar 19p13.3-p13.2

    Benigne Concentric Annular Macular Dystrophy BCAMD 153870 IMPG1 602870 ad 6p12.3-16

    D6S269- [D6S257- D6S1551- D6S430- RIM1- IMPG1- BCAMD- D6S1625- D6S1609- D6S2258- D6S1644- GABRR1&2- D6S1613-D6S1570- D6S1694]- D6S300- D6S249- D6S1671- D6S301
  • Dutch
  • Link(89)
    Bietti crystallin corneoretinal dystrophy BCD 210370 CYP4V2 608614 ar 4q35.2

    D1S406- D1S236
  • 1218 pat. tested against 1258 controls (both N. American and W. Europe origin)
  • Tested G1961E and D2177N
  • Found G1961: 19/1218 pat. & 4/1258 cont.
  • Found D2177N: 21/1189 pat. & 8/1258 cont.
  • Link(51)
    Bothnia Retinal Dystrophy BRD 607475 RLBP1, CRALBP 180090 ar 15q26

    Autosomal Dominant Butterfly Shaped Macular Dystrophy BSMD 608970

    ad 5q21.2–q33.2

    D5S644 - D5S409 - D5S433 - D5S493 - D5S2027 - D5S489 - D5S404 - D5S471 - D5S2057 - D5S2117 - D5S2115 - D5S658 - D5S436 - D5S640 - D5S636 - D5S119 - D5S410 - D5S487 - D5S412 - D5S422
  • Dutch
  • Link(11)
    Central Areolar Choroidal Dystrophy CACD 215500

    ad 17p13-12

    tel- D17S849- (D17S5- D17S1298- D17S938- D17S796- D17S786/ D17S952- D17S804/ D17S945- D17S520- cen
  • Northern Irish family
  • Link(52)
    Cystoid macular dystrophy DCMD 153880

    ad 7p21-15

    Doyne's Honeycomb Retinal Dystrophy DHRD 126600 EFEMP1 601548 ad 2p16

    D2S119- D2S391- D2S2227- D2S2316- [5 D2S2739- DS2251- D2S2325- D2S378- D2S370- D2S147
    Enhanced S-cone Syndrome ESCS 268100 NR2E3, PNR 604485 ar 15q23

    D15S125- [D15S1015- D15S216- D15S131- D15S204]- D15S999
  • 94% mutation detection rate
  • 79% mutation detection rate with 2 patients without any mutation
  • Link(32)
    Fundus albipunctatus FA 136880 RDH5 601617 ar 12q13-14

    Fundus flavimaculatus with Macular Dystrophy FFM 248200 ABCR 601691 ar 1p21-13

    tel- D1S311- D1S207- D1S167- D1S435- D1S188- D1S1170- D1S424- D1S406- D1S236- D1S497- D1S420- D1S206- D1S415- cen
  • Intrafamilial variability with early- and late-onset cases
  • Link(3)
    Hypotrichosis with Juvenile Macular Dystrophy HJMD 601553 CDH3 114021 ar 16q22.1

    [5cM D16S3085- D16S3025- D16S3066]
  • 4 consanguineous Druze families from Israel
  • Homozygosity mapping
  • Link(79)
    Late-onset Macular Degeneration LOMD
    C1QTNF5,CTRP5 608752 ar 11q23.3

    Late-onset Retinal Degeneration L-ORD 605670 C1QTNF5,CTRP5 608752 ad 11q23.3

    Progressive Macular Dystrophy
    North Carolina Type
    MCDR1 136550

    ad 6q16

    cen- D6S275/D6S361- D6S492- D6S424- D6S300- D6S1682- D6S501- D6S249- AFM270XE5- D6S1716- WI-2896- D6S1717- D6S1565- GATAp9365- D6S1671- D6S468- D6S283- tel
  • French family
  • Irish family
  • Link(74)
    Autosomal Dominant Bull's Eye Macular Dystrophy MCDR2 608051 PROM1 604365 ad 4p15.2-16.3

    D4S2936- D4S3023- D4S2935- D4S416- D4S2994- D4S3022- D4S391- D4S2912- D4S1587
  • British
  • Link(57)
    North Carolina Macular Dystrophy MCDR3 136550

    ad 5p13.1-15.33

    D5S1981- D5S417- D5S2088- D5S406- D5S1953- D5S630- MCDR1- D5S416- D5S2031- D5S419- D5S426
  • Non-consanguineous
  • British
  • Link(58)
    Dominant Macular Dystrophy, North Carolina-like, progressive hearing loss MCDR4

    ad 14q

    D14S281 - D14S1023 - D14S72 - D14S283 - D14S275
  • Non-consanguineous
  • British
  • Link(25)
    Dominant Macular Dystrophy MCDR5

    ad 19q13.31-32

  • Non-consanguineous
  • British
  • Link(100)
    Malattia leventinense MLVT 126600 EFEMP1 601548 ar 2p21-16

    D2S391 -[6.2 D2S2227- D2S123- D2S2251- D2S2153- D2S378]- D2S2138- D2S370
  • Graduated penetrance values used for linkage calculations
    • 0 - 19 y: 0%
    • 20 - 30 y: 20%
    • >31: 95%
  • (14)
    Newfoundland Rod-Cone Dystrophy, Early-Onset Retinal Dystrophy NFRCD 607476 RLBP1, CRALBP 180090 ar 15q26

    D15S205- D15S127
  • Reminiscent of Retinitis punctata albescens
  • Younger age
  • Link(19)
    Progressive bifocal chorioretinal atrophy PBCRA 600790

    ad 6q11-16.2

    D6S249- D6S283
  • Seperate clinical entity from MCDR1
  • Link(44)
    Primary Retinal Dysplasia PRD 312550

    xl Xp11.3

    Pseudoxanthoma elasticum PXE 264800 ABCC6 603234 ar 16p13.1

    tel- D16S3114- D16S500- D16S2619- D16S3079- D16S3060- D16S405- [D16S2720, D16B9622]- ABCC6- D16S764- D16S79- D16S3103- D16S3017- D16S499- D16S3036
  • Prototypic heritable connective tissue disorder
  • Primary manifestations in skin, eyes, and cardiovascular system
  • Ocular features: angioid streaks
  • Angioid streaks result from fractures in Bruch's membrane
  • Link(65)
    Retinal Degeneration RP41
    PROM1 604365 ar 4p16

    Retinitis punctata albescens RPA 136880 RHO 180380 ar 3q21-24

    Retinitis punctata albescens RPA 136880 PRPH2 179605 ar 6p12

    Retinitis punctata albescens RPA 136880 RLBP1, CRALBP 180090 ar 15q26

    Retinoschisis RS 312700 RS1
    xl Xp22.2

    DXS418- DXS999 [2]
    Sorsby´s Fundus Dystrophy SFD 136900 TIMP3 188826 ad 22q12-13.2

    Slow Photoreceptor Degeneration SPD
    RGS9 604067 ar 17q24

    Slow Photoreceptor Degeneration SPD 608415 R9AP 607814 ar 19q13.12

    Juvenile Stargardt disease STGD1 248200 ABCR 601691 ar 1p22-21

    D1S406- D1S236
    Macular dystrophy with flecks
    Stargardt 2
    STGD2 153900

    ad 13q34

    D13S159- D13S158 Re-assigned to 6q11 Link(105)
    Macular dystrophy with flecks
    Stargardt 3
    STGD3 600110 ELOLV4 605512 ad 6q14

    D6S313- D6S252
    D6S1622- D6S391
  • General founder mutation in almost all investigated North American families
  • Link(15)
    Autosomal dominant Stargardt-like Disease STGD4 603786 PROM1 604365 ad 4p15.3

    D4S3007- [~12 D4S1582- D4S2639- D4S2944- D4S1602- D4S403- D4S1601- D4S2397 (includes retinal proteins DRP- 1 and HSP90)]
    Macular dystrophy
    atypical vitelliform
    VMD1 153840

    ad 8q24

    Vitelliform macular dystrophy
    Best disease
    153700 BEST1 607854 ad 11q12-13.1

    UGB- D11S4076- D11S1765
    MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial


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    33. 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.
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    34. 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.
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    35. 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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    36. 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
    37. 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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