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DATABASES

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]
(107)
Fundus Xerophthalmicus

RBP4 180250 ar 10q24

D10S571
D10S185

Link(73)
Rod/Cone Dystrophy, pseudo dominant



ad 1p21-13

D1S406- D1S236
(36)
Retinal pattern dystrophy
179605 PRPH2 179605 ad 6p12



Link(43)
Link(50)
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
    Link(24)
    Link(23)
    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)
    Link(106)
    Autosomal Dominant Retinal Dystrophy adRD
    GUCA1B 602275 ad 6p21.1



    Link(68)
    Autosomal dominant vitreoretinochoroidopathy ADVIRC 193220 BEST1 607854 ad 11q12-13.1

    UGB- D11S4076- D11S1765
    Link(102)
    Link(6)
    Autosomal Recessive Bestrophinopathy ARB 611809 BEST1 607854 ar 11q12-13.1

    UGB- D11S4076- D11S1765
    Link(7)
    Link(27)
    Link(70)
    Age-related Macular Dystrophy ARMD 603075 CFB 138470 ar 6p21.3



    Link(28)
    Age-related Macular Dystrophy ARMD 603075 TLR3 603029 ar 4q35.1



    Link(2)
    Link(18)
    Link(101)
    Age-related Macular Dystrophy ARMD 603075 C2 217000 ar 6p21.3



    Link(28)
    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
    Link(71)
    Age-related Macular Dystrophy ARMD 10 611488 TLR4 603030 ar 9q32-33



    Link(104)
    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)
    Link(1)
    Age-related Macular Dystrophy ARMD 3 608895 FBLN5 604580 ar 14q32.1



    Link(82)
    Age-related Macular Dystrophy ARMD 4 610698 CFH1 134370 ar 1q32



    Link(46)
    Link(33)
    Link(17)
    Age-related Macular Dystrophy ARMD 5 603075 ERCC6 609413 ar 10q11



    Link(87)
    Age-related Macular Dystrophy ARMD 6 603075 QRX,RAXL1 610362 ar 19p13.3



    Link(90)
    Age-related Macular Dystrophy ARMD 7 610149 HTRA1 602194 ar 10q26

    D10S12307- D10S1230
    Link(94)
    Link(53)
    Link(72)
    Link(45)
    Link(98)
    Link(12)
    Age-related Macular Dystrophy ARMD 8 611313 LOC387715,ARMS2 611313 ar 10q25.3-q26.2



    Link(38)
    Link(67)
    Age-related Macular Dystrophy ARMD 9 611378 C3 120700 ar 19p13.3-p13.2



    Link(54)
    Link(103)
    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)
    Link(39)
    Bothnia Retinal Dystrophy BRD 607475 RLBP1, CRALBP 180090 ar 15q26



    Link(9)
    Link(8)
    (10)
    Link(29)
    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

    D7S526
    Link(49)
    Link(96)
    Doyne's Honeycomb Retinal Dystrophy DHRD 126600 EFEMP1 601548 ad 2p16

    D2S119- D2S391- D2S2227- D2S2316- [5 D2S2739- DS2251- D2S2325- D2S378- D2S370- D2S147
    Link(30)
    Link(83)
    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)
    Link(81)
    (42)
    Fundus albipunctatus FA 136880 RDH5 601617 ar 12q13-14



    Link(95)
    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)
    Link(4)
    Link(26)
    Link(37)
    Link(86)
    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



    Link(5)
    Late-onset Retinal Degeneration L-ORD 605670 C1QTNF5,CTRP5 608752 ad 11q23.3



    Link(34)
    Link(5)
    Link(85)
    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)
    (76)
    Link(77)
    Link(75)
    Link(99)
    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)
    Link(97)
    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)
    Link(16)
    Link(35)
    Link(83)
    Link(55)
    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



    Link(64)
    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)
    Link(66)
    Retinal Degeneration RP41
    PROM1 604365 ar 4p16



    Link(56)
    Retinitis punctata albescens RPA 136880 RHO 180380 ar 3q21-24



    Link(78)
    Link(93)
    Retinitis punctata albescens RPA 136880 PRPH2 179605 ar 6p12



    Link(40)
    Retinitis punctata albescens RPA 136880 RLBP1, CRALBP 180090 ar 15q26



    Link(59)
    Retinoschisis RS 312700 RS1
    xl Xp22.2

    DXS418- DXS999 [2]
    Link(62)
    Link(69)
    Link(88)
    Sorsby´s Fundus Dystrophy SFD 136900 TIMP3 188826 ad 22q12-13.2



    Link(20)
    Link(21)
    Link(91)
    Slow Photoreceptor Degeneration SPD
    RGS9 604067 ar 17q24



    Link(61)
    Slow Photoreceptor Degeneration SPD 608415 R9AP 607814 ar 19q13.12



    Link(61)
    Juvenile Stargardt disease STGD1 248200 ABCR 601691 ar 1p22-21

    D1S406- D1S236
    Link(4)
    Link(3)
    Link(41)
    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
    D6S280
    D6S1622- D6S391
  • General founder mutation in almost all investigated North American families
  • Link(15)
    (48)
    Link(84)
    Link(106)
    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)]
    Link(47)
    Link(97)
    Macular dystrophy
    atypical vitelliform
    VMD1 153840

    ad 8q24

    GPT1
    Link(22)
    Vitelliform macular dystrophy
    Best disease
    VMD2
    BMD
    153700 BEST1 607854 ad 11q12-13.1

    UGB- D11S4076- D11S1765
    Link(60)
    Link(63)
    Link(80)
    Link(92)
    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.
      Link Goto Top
    2. Allikmets,R., Bergen,A.A., Dean,M., Guymer,R.H., Hageman,G.S., Klaver,C.C., Stefansson,K., and Weber,B.H. Geographic atrophy in age-related macular degeneration and TLR3. 2009; N.Engl.J.Med. 360: 2252-2254.
      Link Goto Top
    3. 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.
      Link Goto Top
    4. 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.
      Link Goto Top
    5. 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.
      Link Goto Top
    6. Burgess,R., MacLaren,R.E., Davidson,A.E., Urquhart,J.E., Holder,G.E., Robson,A.G., Moore,A.T., Keefe,R.O., Black,G.C., and Manson,F.D. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. 2009; J.Med.Genet. 46: 620-625.
      Link Goto Top
    7. Burgess,R., Millar,I.D., Leroy,B.P., Urquhart,J.E., Fearon,I.M., De,B.E., Brown,P.D., Robson,A.G., Wright,G.A., Kestelyn,P., Holder,G.E., Webster,A.R., Manson,F.D., and Black,G.C. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 2008; Am.J.Hum.Genet. 82: 19-31.
      Link Goto Top
    8. 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.
      Link Goto Top
    9. 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.
      Link Goto Top
    10. 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
    11. den Hollander,A.I., Lith-Verhoeven,J.J., Kersten,F.F., Heister,J.G., de Kovel,C.G., Deutman,A.F., Hoyng,C.B., and Cremers,F.P. Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2. 2004; J.Med.Genet. 41: 699-702.
      Link Goto Top
    12. Dewan,A., Liu,M., Hartman,S., Zhang,S.S., Liu,D.T., Zhao,C., Tam,P.O., Chan,W.M., Lam,D.S., Snyder,M., Barnstable,C., Pang,C.P., and Hoh,J. HTRA1 promoter polymorphism in wet age-related macular degeneration. 2006; Science. 314: 989-992.
      Link Goto Top
    13. 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.
      Link Goto Top
    14. 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
    15. 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.
      Link Goto Top
    16. 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.
      Link Goto Top
    17. 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.
      Link Goto Top
    18. Edwards,A.O., Swaroop,A., and Seddon,J.M. Geographic atrophy in age-related macular degeneration and TLR3. 2009; N.Engl.J.Med. 360: 2254-2255.
      Link Goto Top
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      Link Goto Top
    20. 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.
      Link Goto Top
    21. 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.
      Link Goto Top
    22. 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.
      Link Goto Top
    23. Fossdal,R., Jonasson,F., Kristjansdottir,G.T., Kong,A., Stefansson,H., Gosh,S., Gulcher,J.R., and Stefansson,K. A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration). 2004; Hum.Mol.Genet. 13: 975-981.
      Link Goto Top
    24. 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.
      Link Goto Top
    25. Francis,P.J., Johnson,S., Edmunds,B., Kelsell,R.E., Sheridan,E., Garrett,C., Holder,G.E., Hunt,D.M., and Moore,A.T. Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss. 2003; Br.J.Ophthalmol. 87: 893-898.
      Link Goto Top
    26. 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.
      Link Goto Top
    27. Gerth,C., Zawadzki,R.J., Werner,J.S., and Heon,E. Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). 2008; Doc.Ophthalmol. 3: 239-246.
      Link Goto Top
    28. Gold,B., Merriam,J.E., Zernant,J., Hancox,L.S., Taiber,A.J., Gehrs,K., Cramer,K., Neel,J., Bergeron,J., Barile,G.R., Smith,R.T., Hageman,G.S., Dean,M., and Allikmets,R. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. 2006; Nat.Genet. 38: 458-462.
      Link Goto Top
    29. 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.
      Link Goto Top
    30. 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.
      Link Goto Top
    31. 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. Goto Top
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