VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies

Human Mutation

Volumn 15, Issue 4, 2000, Pages 301-308

  White, Karen ^a   Marquardt, Andreas ^a   Weber, Bernhard H F ^a,b  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

Adult vitelliform macular dystrophy; Age related macular degeneration; Best disease; Chromosome 11; VMD2

Indexed keywords

ARTICLE; CHROMOSOME 11; DISEASE ASSOCIATION; GENE EXPRESSION; GENE MUTATION; HUMAN; MISSENSE MUTATION; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULA VITELLIFORM DEGENERATION; RETINA MACULOPATHY;

EID: 0034033295     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N     Document Type: Article

References (23)

1. Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML, Wadelius C, Caskey CT, Dean M, Petrukhin K. 1999. Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet 104:449-453.
2. Bakall B, Marknell T, Ingvast S, Koisti MJ, Sandgren O, Li W, Bergen AAB, Andreasson S, Rosenberg T, Petruhkin K, Wadelius C. 1999. The mutation spectrum of the bestrophin protein-functional implications. Hum Genet 104:383-389.
3. Best F. 1905. Über eine hereditäre Maculaffection: Beiträge zur Vererbungslehre. Z Augenheilkd 13:199-212.
4. Boulton M, Marshall J. 1986. Effects of increasing phagocytic inclusions on human retinal pigment epithelial cells in culture: a model for aging. Br J Ophthalmol 70:801-805.
5. Braley AE, Spivey BE. 1964. Hereditary vitelline macular degeneration: a clinical and functional evaluation of a new pedigree with variable expressivity and dominant inheritance. Arch Ophthalmol 72:743-762.
6. Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R. 1999. Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics 58:98-101.
7. Deutman AF. 1969. Electro-oculography in families with vitelliform dystrophy of the fovea: detection of the carrier state. Arch Ophthalmol 81:305-316.
8. Ebstein GA, Rabb MF. 1980. Adult vitelliform macular degeneration: diagnosis and natural history. Br J Ophthalmol 64:733-740.
9. Forsman K, Graff C, Nordstrom S, Johansson K, Westermark E, Lundgren E, Gustavson KH, Wadelius C, Holmgren G. 1992. The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin Genet 42:156-159.
10. Graff C, Eriksson A, Forsman K, Sandgren O, Holmgren G, Wadelius C. 1997. Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids. Hum Genet 101:263-270.
11. Hofmann K, Stoffel W 1993. TMbase - A database of membrane spanning protein segments. Biol Chem Hoppe-Seyler 347:166.
12. Katz ML, Drea CM, Eldred GE, Hess HH, Robison WG Jr. 1986. Influence of early photoreceptor degeneration on lipofuscin in the retinal pigment epithelium. Exp Eye Res 43:561-573.
13. Katz ML, Eldred GE. 1989. Retinal light damage reduces autofluorescent pigment deposition in the retinal pigment epithelium. Invest Ophthalmol Vis Sci 30:37-43.
14. Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BHF. 1999. 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, in press.
15. Marmor MF. 1998. Structure, function, and disease of the retinal pigment epithelium. In: Marmor MF, Wolfensberger TJ, editors. The retinal pigment epithelium, function and disease. Oxford: Oxford University Press, p 3-9.
16. Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BHF. 1998. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet 7:1517-1525.
17. Mohler CW, Fine SL. 1981. Long-term evaluation of patients with Best's vitelliform dystrophy. Ophthalmology 88:688-692.
18. Nordström S, Thorburn W. 1980. Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children. Clin Genet 18:211-216.
19. Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AAB, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C. 1998. Identification of the gene responsible for Best macular dystrophy. Nature Genet 19:241-247.
20. Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC. 1992. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nature Genet 1:246-250
21. Theischen M, Schilling H, Steinhorst UH. 1997. EOG bei adulter vitelliformer Makuladegeneration (AVMD), schmetterlingsförmiger Patterndystrophie und Morbus Best. Ophthalmologe 94:230-233.
22. Weber BHF, Walker D, Müller B. 1994. Molecular evidence for non-penetrance in Best's disease. J Med Genet 31:388-392.
23. Weingeist TA, Kobrin JL, Watzke RC. 1982. Histopathology of Best's macular dystrophy. Arch Ophthalmol 100:1108-1114.