Literature DB >> 15657694

[Best's disease with normal EOG. Case report of familial macular dystrophy].

K Pollack1, F R Kreuz, L E Pillunat.   

Abstract

Best's disease is an autosomal dominant disorder with incomplete penetrance and variable expression. A typical characteristic of Best's disease is a pathological EOG. We describe four members of a family with bilateral, subfoveal vitelliform lesions. The EOG was normal in all cases. Genetic analysis of the oldest son indicated a heterozygotic mutation Ala234Val in the VMD2 gene, so-called bestrophin gene, which is associated with Best's disease. Molecular genetic analysis also found Best's disease with a normal EOG. A normal EOG cannot exclude Best's disease. The family members should receive genetic consultation and if wished analysis of the VMD2 gene.

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Year:  2005        PMID： 15657694     DOI： 10.1007/s00347-004-1088-z

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN： 0941-293X            Impact factor:   1.059


  10 in total

1.  Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene.

Authors:  L Eksandh; B Bakall; B Bauer; C Wadelius; S Andréasson
Journal:  Ophthalmic Genet       Date:  2001-06       Impact factor: 1.803

Review 2.  Best's vitelliform dystrophy.

Authors:  C F Blodi; E M Stone
Journal:  Ophthalmic Paediatr Genet       Date:  1990-03

3.  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.

Authors:  J M Seddon; M A Afshari; S Sharma; P S Bernstein; S Chong; A Hutchinson; K Petrukhin; R Allikmets
Journal:  Ophthalmology       Date:  2001-11       Impact factor: 12.079

Review 4.  VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.

Authors:  K White; A Marquardt; B H Weber
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

5.  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.

Authors:  F Krämer; K White; D Pauleikhoff; A Gehrig; L Passmore; A Rivera; G Rudolph; U Kellner; M Andrassi; B Lorenz; K Rohrschneider; A Blankenagel; B Jurklies; H Schilling; F Schütt; F G Holz; B H Weber
Journal:  Eur J Hum Genet       Date:  2000-04       Impact factor: 4.246

6.  Pattern ERG and psychophysical functions in Best's disease.

Authors:  M Jarc-Vidmar; P Popović; M Hawlina; J Brecelj
Journal:  Doc Ophthalmol       Date:  2001-07       Impact factor: 2.379

7.  [Hereditary macular dystrophies].

Authors:  U Kellner; C Jandeck; H Kraus; M H Foerster
Journal:  Ophthalmologe       Date:  1998-09       Impact factor: 1.059

8.  Phenotype and genotype correlations in two best families.

Authors:  J M Seddon; S Sharma; S Chong; A Hutchinson; R Allikmets; R A Adelman
Journal:  Ophthalmology       Date:  2003-09       Impact factor: 12.079

9.  Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

Authors:  A Marquardt; H Stöhr; L A Passmore; F Krämer; A Rivera; B H Weber
Journal:  Hum Mol Genet       Date:  1998-09       Impact factor: 6.150

10.  Variable phenotypic expressivity of Best's vitelliform dystrophy.

Authors:  A Loewenstein; V Godel; L Godel; M Lazar
Journal:  Ophthalmic Paediatr Genet       Date:  1993-09
  10 in total
  6 in total

1.  Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy.

Authors:  B Wabbels; M N Preising; U Kretschmann; A Demmler; B Lorenz
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2006-04-13       Impact factor: 3.117

2.  New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy.

Authors:  D Marchant; K Yu; K Bigot; O Roche; A Germain; D Bonneau; V Drouin-Garraud; D F Schorderet; F Munier; D Schmidt; P Le Neindre; C Marsac; M Menasche; J L Dufier; R Fischmeister; C Hartzell; M Abitbol
Journal:  J Med Genet       Date:  2007-02-07       Impact factor: 6.318

3.  Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.

Authors:  Karina E Guziewicz; Barbara Zangerl; Sarah J Lindauer; Robert F Mullins; Lynne S Sandmeyer; Bruce H Grahn; Edwin M Stone; Gregory M Acland; Gustavo D Aguirre
Journal:  Invest Ophthalmol Vis Sci       Date:  2007-05       Impact factor: 4.799

4.  Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.

Authors:  Sancy Low; Alice E Davidson; Graham E Holder; Chris R Hogg; Shomi S Bhattacharya; Graeme C Black; Paul J Foster; Andrew R Webster
Journal:  Mol Vis       Date:  2011-08-23       Impact factor: 2.367

5.  Single Cl- channels activated by Ca2+ in Drosophila S2 cells are mediated by bestrophins.

Authors:  Li-Ting Chien; Zhi-Ren Zhang; H Criss Hartzell
Journal:  J Gen Physiol       Date:  2006-09       Impact factor: 4.086

6.  Multimodal imaging in Multifocal Best disease.

Authors:  Dhaivat Shah; Kumar Saurabh; Rupak Roy
Journal:  Indian J Ophthalmol       Date:  2018-09       Impact factor: 1.848
  6 in total

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