Best's disease. Overview of pathology and its causes;Morbus Best. Ein überblick zur pathologie und deren ursachen

Ophthalmologe

Volumn 102, Issue 2, 2005, Pages 111-115

  Lorenz, B ^a   Preising, M N ^a  

^a UNIVERSITY HOSPITAL REGENSBURG   (Germany)

Author keywords

Autofluorescence; Electro oculogramm; Ion channel; Mutation spectrum; Reduced penetrance

Indexed keywords

CALCIUM CHANNEL; ION CHANNEL; EYE PROTEIN; VMD2 PROTEIN, HUMAN;

AUTOFLUORESCENCE; CLINICAL FEATURE; CORRELATION ANALYSIS; DIAGNOSTIC PROCEDURE; ELECTROOCULOGRAM; GENE MUTATION; GENETIC DISORDER; HUMAN; MOLECULAR GENETICS; OPTICAL COHERENCE TOMOGRAPHY; RETINA MACULA VITELLIFORM DEGENERATION; REVIEW; CONGENITAL CORNEA DYSTROPHY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; PENETRANCE; RETINA MACULA DEGENERATION;

CALCIUM CHANNELS; CORNEAL DYSTROPHIES, HEREDITARY; EYE PROTEINS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MACULAR DEGENERATION; PENETRANCE;

EID: 15244356457     PISSN: 0941293X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00347-004-1158-2     Document Type: Review

References (27)

1. Best F (1905) Über eine hereditäre Maculaaffektion. Z Augenheilkunde 13:199-212
2. Birndorf LA, Dawson WW (1973) A normal electrooculogram in a patient with a typical vitelliform macular lesion. Invest Ophthalmol 12:830-833
3. Cavender JC, Everett AI, Soon TL (1993) Hereditary macular dystrophies. In: Tasman W, Jaeger EA (eds) Duane's Clinical Ophthalmology, vol 3. Lippincott, Philadelphia
4. Denden A, Littann KE (1973) Fluoreszenzangiographie bei den multiplen vitelliformen Retinazysten des hinteren Augenpols. Ophthalmologica 166:94-104
5. Frangieh GT, Green WR, Fine SL (1982) A histopathologic study of Best's macular dystrophy. Arch Ophthalmol 100:1115-1121
6. Gass JDM (1997) Heredodystrophic disorders affecting the pigment epithelium and retina. In: Gass JDM (ed) Steroscopic Atlas of Macular Disease - Diagnosis and Treatment, vol 1, 4th edn. Mosby, St. Louis, pp 303-436
7. Klien BA (1950) The heredodegeneration of the macula lutea. Am J Ophthalmol 33:371-379
8. Krieglstein GK, Jonescu-Cuypers CP, Severin M (1999) Atlas der Augenheilkunde. Springer, Berlin Heidelberg New York Tokio
9. Marmor MF, Donovan WJ, Gaba DM (1985) Effects of hypoxia and hyperoxia on the human standing potential. Doc Ophthalmol 60:347-352
10. Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K (2000) Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci U S A 97:12758-12763
11. Marquardt A, Stöhr H, Passmore LA, Kramer F, Rivera A, Weber BH (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
12. McFarland CB (1955) Heredodegeneration of the macula lutea;a study of the clinical and pathologic aspects. Arch Opthalmol 53:224-228
13. Miller S (1978) Fluorescence in Best's vitelliform dystrophy, lipofuscin, and fundus flavimaculatus. Br J Ophthalmol 62:256-260
14. Mohler CW, Fine SL (1981) Long-term evaluation of patients with Best's vitelliform dystrophy. Ophthalmology 88:688-692
15. O'Gorman S, Flaherty WA, Fishman GA, Berson EL (1988) Histopathologic findings in Best's vitelliform macular dystrophy. Arch Ophthalmol 106:1261-1268
16. Petrukhin K, Koisti MJ, Bakall B et al. (1998) Identification of the gene responsible for Best macular dystrophy. Nat Genet 19:241-247
17. Pianta MJ, Aleman TS, Cideciyan AV et al. (2003) In vivo micropathology of Best macular dystrophy with optical coherence tomography. Exp Eye Res 76:203-211
18. (-) currents. J Biol Chem 278:49563-49572
19. (-) channel: identification of a residue important in anion binding and conduction. J Gen Physiol 123:327-340
20. Schlingemann RO (2004) Role of growth factors and the wound healing response in age-related macular degeneration. Graefes Arch Clin Exp Ophthalmol 242:91-101
21. Stöhr H, Marquardt A, Cooper P, Nowak NJ, Shows TB, Gerhard DS, Weber BHF (1996) Gene map of the Best's disease candidate region in 11q12-q13.1. (Abstract) Am J Hum Genet 59 [Suppl.]:A313
22. Stöhr H, Marquardt A, Nanda I, Schmid M, Weber BH (2002) Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family. Eur J Hum Genet 10:281-284
23. Sun H, Tsunenari T, Yau KW, Nathans J (2002) The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A 99:4008-4013
24. Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J (2003) Structure-function analysis of the bestrophin family of anion channels. J Biol Chem 278:41114-41125
25. Von Rückmann A, Fitzke FW, Bird AC (1997) In vivo fundus autofluorescence in macular dystrophies. Arch Ophthalmol 115:609-615
26. Wabbels BK, Demmler A, Preising MN, Lorenz B (2004) Fundus autofluorescence in patients with genetically determined Best vitelliform macular dystrophy: Evaluation of genotype-phenotype correlation and longitudinal course. Assoc Res Vis Ophthalmol, Bethea, MD, USA
27. Weingeist TA, Kobrin JL, Watzke RC (1982) Histopathology of Best's macular dystrophy. Arch Ophthalmol 100:1108-1114