<?xml version="1.0" encoding="UTF-8"?>
<article article-type="research-article" dtd-version="1.3" xml:lang="en">
  <front>
    <journal-meta>
      <journal-title-group>
        <journal-title>Czech and Slovak Ophthalmology</journal-title>
      </journal-title-group>
    </journal-meta>
    <article-meta>
      <article-id pub-id-type="publisher-id">552</article-id>
      <article-categories>
        <subj-group>
          <subject>Original article</subject>
        </subj-group>
      </article-categories>
      <title-group>
        <article-title>Clinical Variability of Best’s Disease</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <name>
            <surname>Streicher</surname>
            <given-names>Teodor</given-names>
          </name>
        </contrib>
        <contrib contrib-type="author">
          <name>
            <surname>Špirková</surname>
            <given-names>Jana</given-names>
          </name>
        </contrib>
        <contrib contrib-type="author">
          <name>
            <surname>Tichá</surname>
            <given-names>Marie</given-names>
          </name>
        </contrib>
      </contrib-group>
      <pub-date date-type="pub" publication-format="electronic">
        <day>22</day>
        <month>10</month>
        <year>2012</year>
      </pub-date>
      <issue>5</issue>
      <elocation-id>3</elocation-id>
      <abstract>
        <p>Retrospective view of the various phenotypes 20 persons affected by classic solitary form of vitelliform macular dystrophy, in 3 pedigrees with autosomal dominant transmission and in 4 single cases. Long-term monitoring allows to observe the variability of expression, from classic course to peculiarity of the clinical expression in the disc development and their corresponding functions of the central retina.</p>
      </abstract>
      <kwd-group>
        <kwd>solitary vitelliform macular dystrophy</kwd>
        <kwd>variability of phenotypic expression</kwd>
        <kwd>diagnostic</kwd>
      </kwd-group>
    </article-meta>
  </front>
  <back>
    <ref-list>
      <title>References</title>
      <ref id="R12624">
        <mixed-citation>Benson, W.E., Kolker, A.E., Enoch, J.M. et al.: Best`s vitelliform makular dystrophy. Am J Ophthalmol, 79; 1975, 1: 59–66.</mixed-citation>
      </ref>
      <ref id="R12625">
        <mixed-citation>Blodi, CH.F., Stone, E.M.: Best`s vitelliform dystrophy. Opthalmic Paediatrics and Genetics, 11; 1990, 1: 49–59.</mixed-citation>
      </ref>
      <ref id="R12626">
        <mixed-citation>Braley, A.E., Spivey, B.E.: Hereditary vitelline macular degeneration. Arch Ophthalmol, 72; 1964: 743–762.</mixed-citation>
      </ref>
      <ref id="R12627">
        <mixed-citation>Cavender, J.C.: Best`s macular dystrophy. Arch Ophthalmol, 100; 1982, 7:1067.</mixed-citation>
      </ref>
      <ref id="R12628">
        <mixed-citation>Cross, H.E., Bard, L.: Electro- -oculography in Best`s macular dystrophy. Am J Ophthalmol, 77, 1974, 1: 46–50.</mixed-citation>
      </ref>
      <ref id="R12629">
        <mixed-citation>Deutman, A.F.: Electro-oculography in families with vitelliform dystrophy of the fovea. Arch Ophthalmol, 81, 1969, 3: 305–316.</mixed-citation>
      </ref>
      <ref id="R12630">
        <mixed-citation>Deutman, A.F.: The hereditary dystrophies of the posterior pole of the eye. Van Gorcum, Assen, 1971, s. 198–299.</mixed-citation>
      </ref>
      <ref id="R12631">
        <mixed-citation>Forsman, K., Graff, C., Nordström, S., et al.: The gene for Best`s macular dystrophy is located at 11q13 in a Swedish famili. Clin Genet, 42;1992: 156–159.</mixed-citation>
      </ref>
      <ref id="R12632">
        <mixed-citation>Frangieh, G.T., Green, R.W., Fine, S.L.: Histopathologic study of Best`s macular dystrophy. Arch Ophthalmol, 100; 1982, 7: 1115–1121.</mixed-citation>
      </ref>
      <ref id="R12633">
        <mixed-citation>Friedenwald, J.S., Maumenee, E.A.: Peculiar macular lesions with unaccountably good vision. Arch Ophthalmol, 45; 1951: 567–569.</mixed-citation>
      </ref>
      <ref id="R12634">
        <mixed-citation>Godel, V., Chaine, G., Regenbogen, L., et al.: Best`s vitelliform macular dystrophy. Acta Ophthalmol, Supplement 175; 64, 1986: 5–31.</mixed-citation>
      </ref>
      <ref id="R12635">
        <mixed-citation>Hartzell, C.H., Qu,Z., Yu, K., et al.: Molecular physiology of bestrophins: multifunctional membrane proteins linked to Best disease and other retinopathies. Physiol Rev, 88; 2008: 639–672.</mixed-citation>
      </ref>
      <ref id="R12636">
        <mixed-citation>Huismans, H.: Cysta vitelliformis – Bericht über ein seltenes heredodegeneratives Makulaleiden. Klin Mbl Augenheilk,166; 1975, 2: 252–254.</mixed-citation>
      </ref>
      <ref id="R12637">
        <mixed-citation>Jaeger, W., Bischoff, E.: Vitelliforme Makuladegeneration und Bestsche Makuladgeneration sind dasselbe Krankheitsbild. Klin Mbl Augenheilk, 170; 1977, 6: 890–899.</mixed-citation>
      </ref>
      <ref id="R12638">
        <mixed-citation>Kingham, J.D., Lochen, G.P.: Vitelliform macular degeneration. Am J Ophthalmol, 84; 1977, 4: 526–531.</mixed-citation>
      </ref>
      <ref id="R12639">
        <mixed-citation>Krämer, 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, 8; 2000, 4: 286–292.</mixed-citation>
      </ref>
      <ref id="R12640">
        <mixed-citation>Kraushar, M.F., Margolis, S., Morse, P.H. et al.: Pseudohypopyon in Best`s vitelliform macular dystrophy. Am J Ophthalmol, 94; 1982, 1: 30–37.</mixed-citation>
      </ref>
      <ref id="R12641">
        <mixed-citation>Lisch, W.: Die verschiedenen Stadien der vitelliformen Makuladegeneration. Klin Mbl Augenheilk, 176; 1980, 2: 214–221.</mixed-citation>
      </ref>
      <ref id="R12642">
        <mixed-citation>Miller, S.A., Bresnick, G.H., Chandra, S.R.: Choroidal neovascular membrane in Best`s vitelliform macular dystrophy. Am J Ophthalmol, 82; 1976, 2: 252–255.</mixed-citation>
      </ref>
      <ref id="R12643">
        <mixed-citation>Miller, S.A.: Fluorescence in Best`s vitelliform dystrophy, lipofuscin, and fundus flavimaculatus. Brit J Ophthalmol, 62; 1978: 256–260.</mixed-citation>
      </ref>
      <ref id="R12644">
        <mixed-citation>Morse, P.H., MacLean, A.I.: Fluorescein fundus studies in hereditary vitelliruptive macular degeneration. Am J Ophthalmol, 66; 1968, 9: 485–494.</mixed-citation>
      </ref>
      <ref id="R12645">
        <mixed-citation>O`Gorman, S., Flaherty, W.A., Fishman, G.A. et al.: Histopathologic findings in Best`s vitelliform macular dystrophy. Arch Ophthalmol, 106; 1988, 9: 1261–1268.</mixed-citation>
      </ref>
      <ref id="R12646">
        <mixed-citation>Remky, H., Rix, J., Klier, K.F.: Dominant – autosomale Maculadegeneration (Best, Sorsby) mit zystischen und vitelliformen Stadien (Huysmans, Zanen). Klin Mbl Augenheilk, 146; 1965, 4: 473–497.</mixed-citation>
      </ref>
      <ref id="R12647">
        <mixed-citation>Schum, U.: Fluorescenzangiographie bei vitelliformer Maculadegeneration. Bericht 70, Zukunft DOG, Heidelberg, 1969: 252–257.</mixed-citation>
      </ref>
      <ref id="R12648">
        <mixed-citation>Spaide,R.: Autofluorescence from the outer retina and subretinal space: Hypothesis and review. Retina, 28; 2008, 1: 5–35.</mixed-citation>
      </ref>
      <ref id="R12649">
        <mixed-citation>Stone, E.M., Nichols, B.E., Streb, L.M. et al.: Genetic linkage of vitelliform macular degeneration (Best`s disease) to chromosome 11q13. Nat Genet, 1; 1992: 246–250.</mixed-citation>
      </ref>
      <ref id="R12650">
        <mixed-citation>Streicher, T.: Viteliformná heredodegenerácia makuly. Čs Oftal, 23; 1967, 6: 423–428.</mixed-citation>
      </ref>
      <ref id="R12651">
        <mixed-citation>Thiel,H.J., Behnke,H.: Klinik und Vererbung der vitelliformen Maculadegeneration. Klin.Mbl.Augenheilk., 158, 1971, 2: 235–246.</mixed-citation>
      </ref>
      <ref id="R12652">
        <mixed-citation>Weingeist, T.A., Kobrin, J.I., Watzke, R.C.: Histopathology of Bestęs makular dystrophy. Arch Ophthalm, 100; 1982: 1108– 1114.</mixed-citation>
      </ref>
      <ref id="R12653">
        <mixed-citation>Záhlava, J., Karel, I., Lešták, J.: Bestova viteliformní dystrofie komplikovaná neovaskulární membránou a krvácením. Čes a Slov Oftal, 58; 2002, 3: 158–164.</mixed-citation>
      </ref>
      <ref id="R12654">
        <mixed-citation>Zanen, J., Rausin, G.: Kyste vitelliforme congénital de la macula. Bull Soc belge Ophthal, 96; 1950: 1–5.</mixed-citation>
      </ref>
      <ref id="R12655">
        <mixed-citation>Zanen, J., Rausin, G.: Kyste vitelliforme congénital de la macula. Bull Soc belge Ophthal, 98, 1951: 1–2.</mixed-citation>
      </ref>
      <ref id="R12656">
        <mixed-citation>Yu, K., Qu, Z., Cui, Y. et al.: Chloride channel activity of bestrophin mutants associate with mild or late-onset macular degeneration. Invest Ophthalmol Vis Sci, 48; 2007: 4694-4705.</mixed-citation>
      </ref>
    </ref-list>
  </back>
</article>
