Pseudo-Vitelliform Macular Detachment and Cuticular Drusen: Exclusion of 6 Candidate Genes

REFERENCES

• Gass J D. Stereoscopic Atlas of macular Diseases: Diagnosis and Treatment. 2nd ed. The C.V. Mosby Co., St. Louis 1977; 1946
   Google Scholar
• Gass J D, Jallow S, Davis B. Adult vitelliform macular detachment occurring in patients with basal laminar drusen. Am J Ophthalmol. 1985; 99: 445–459
   PubMed Web of Science ®Google Scholar
• Meunier I, Cohen S Y, Debibie C, Quentel G. Five-year evolution of basal laminar drusen combined with vitelliform macular detachment. Arch Ophthalmol. 2004; 122: 1566–1567
   Google Scholar
• Seddon J M, Afshari M A, Sharma S, et al. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. Ophthalmology. 2001; 108: 2060–2067
   PubMed Web of Science ®Google Scholar
• Gutman I, Walsh J B, Henkind P. Vitelliform macular dystrophy and butterfly-shaped epithelial dystrophy: A continuum?. Br J Ophthalmol 1982; 66: 170–173
   PubMed Web of Science ®Google Scholar
• Giuffre G, Lodato G. Vitelliform dystrophy and pattern dystrophy of the retinal pigment epithelium: Concomitant presence in a family. Br J Ophthalmol. 1986; 70: 526–532
   PubMed Web of Science ®Google Scholar
• Cohen S Y, Meunier I, Soubrane G, Glacet-Bernard A, Coscas G J. Visual function and course of basal laminar drusen combined with vitelliform macular detachment. Br J Ophthalmol. 1994; 78: 437–440
   Google Scholar
• Lerche W. Pigmentepithelveraenderungen bei Drusen im Makulabereich. Ber. Deutsche Ophthalmologische Gesellschaft. 1973; 73: 439–446
   Google Scholar
• Russell S R, Mullins R F, Schneider B L, Hageman G S. Location, substructure, and composition of basal laminar drusen compared with drusen associated with aging and age-related macular degeneration. Am J Ophthalmol. 2000; 129: 205–214
   PubMed Web of Science ®Google Scholar
• Bird A C, Bressler N M, Bressler S B, et al. An international classification and grading system for age-related maculopathy and age-related macular degeneration. The International ARM Epidemiological Study Group. Surv Ophthalmol. 1995; 39: 367–374
   PubMed Web of Science ®Google Scholar
• Klaver C C, Assink J J, van Leeuwen R, et al. Incidence and progression rates of age-related maculopathy:The Rotterdam Study. Invest Ophthalmol Vis Sci. 2001; 42: 2237–2241
   PubMed Web of Science ®Google Scholar
• Hageman G S, Anderson D H, Johnson L V, et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A 2005; 102: 7227–7232
   PubMed Web of Science ®Google Scholar
• Gold B, Merriam J E, Zernant J, et al. Variation in the Factor B (BF) and Complement Component 2 (C2) genes is associated with age-related macular degeneration. Nature Genet. 2006; 38: 458–462
   PubMed Web of Science ®Google Scholar
• Jaakson K, Zernant J, Kulm M, et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat. 2003; 22: 395–403
   PubMed Web of Science ®Google Scholar
• Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 1997; 15: 236–246
   PubMed Web of Science ®Google Scholar
• Weleber R G, Carr R E, Murphey W H, Sheffield V C, Stone E M. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol. 1993; 111: 1531–1542
   PubMedGoogle Scholar
• Downes S M, Fitzke F W, Holder G E, et al. Clinical features of codon 172 RDS macular dystrophy: Similar phenotype in 12 families. Arch Ophthalmol. 1999; 117: 1373–1383
   Google Scholar
• Kramer F, White K, Pauleikhoff D, et al. Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet. 2000; 8: 286–392
   PubMed Web of Science ®Google Scholar
• Allikmets R, Seddon J M, Bernstein P S, et al. Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet. 1999; 104: 449–453
   PubMed Web of Science ®Google Scholar
• den Hollander A I, van Lith-Verhoeven J J, Kersten F F, et al. Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2–q33.2. J Med Genet. 2004; 41: 699–702
   Google Scholar
• Felbor U, Schilling H, Weber B H. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat. 1997; 10: 301–309
   PubMed Web of Science ®Google Scholar
• Allikmets R, Shroyer N F, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997; 277: 1805–1807
   PubMed Web of Science ®Google Scholar
• Allikmets R, the International ABCR Screening Consortium. Further evidence for an association of ABCR alleles with age-related macular degeneration. Am J Hum Genet 2000; 67: 487–491
   PubMed Web of Science ®Google Scholar
• Felbor U, Doepner D, Schneider U, Zrenner E, Weber B H. Evaluation of the gene encoding the tissue inhibitor of metalloproteinases-3 in various maculopathies. Invest Ophthalmol Vis Sci. 1997; 38: 1054–1059
   PubMed Web of Science ®Google Scholar
• De La Paz M A, Pericak-Vance M A, Lennon F, Haines J L, Seddon J M. Exclusion of TIMP3 as a candidate locus in age-related macular degeneration. Invest Ophthalmol Vis Sci. 1997; 38: 1060–1065
   PubMed Web of Science ®Google Scholar
• Stone E M, Lotery A J, Munier F L, et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999; 22: 199–202
   PubMed Web of Science ®Google Scholar
• Narendran N, Guymer R H, Cain M, Baird P N. Analysis of the EFEMP1 gene in individuals and families with early onset drusen. Eye 2005; 19: 11–15
   PubMed Web of Science ®Google Scholar
• Marmorstein L. Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review. Ophthalmic Genet. 2004; 25: 219–226
   Google Scholar
• Stone E M, Braun T A, Russell S R, et al. Missense variations in the fibulin 5 gene and age-related macular degeneration. N Engl J Med. 2004; 351: 346–353
   PubMed Web of Science ®Google Scholar
• Johnson L V, Anderson D H. Age-related macular degeneration and the extracellular matrix. N Engl J Med. 2004; 351: 320–322
   PubMedGoogle Scholar