Literature DB >> 1209822

Genetic counseling of families with Best macular dystrophy.

L A Bard, H E Cross.   

Abstract

We have examined 233 members of eight families with BMD. Of these, 169 were also examined with EOG. Sibships wherer greater than or equal to 80% of members were examined clinically and with EOG totaled 39. The results established both the validity and reliability of EOG testing in detecting people genetically affected with BMD. Hyperopia is established as an important manifestation of the disease. The visual prognosis of BMD is described.

Entities:  

Mesh：

Year:  1975        PMID： 1209822

Source DB:  PubMed          Journal:  Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol        ISSN： 0161-6978


  7 in total

1.  Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium.

Authors:  A D Marmorstein; L Y Marmorstein; M Rayborn; X Wang; J G Hollyfield; K Petrukhin
Journal:  Proc Natl Acad Sci U S A       Date:  2000-11-07       Impact factor: 11.205

Review 2.  Bestrophin 1 and retinal disease.

Authors:  Adiv A Johnson; Karina E Guziewicz; C Justin Lee; Ravi C Kalathur; Jose S Pulido; Lihua Y Marmorstein; Alan D Marmorstein
Journal:  Prog Retin Eye Res       Date:  2017-01-30       Impact factor: 21.198

3.  Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.

Authors:  Elliott H Sohn; Peter J Francis; Jacque L Duncan; Richard G Weleber; David A Saperstein; Donald F Farrell; Edwin M Stone
Journal:  Arch Ophthalmol       Date:  2009-07

4.  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

Review 5.  Functional roles of bestrophins in ocular epithelia.

Authors:  Alan D Marmorstein; Harold E Cross; Neal S Peachey
Journal:  Prog Retin Eye Res       Date:  2009-05-04       Impact factor: 21.198

6.  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

7.  Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.

Authors:  C Crowley; R Paterson; T Lamey; T McLaren; J De Roach; E Chelva; J Khan
Journal:  Doc Ophthalmol       Date:  2014-05-24       Impact factor: 2.379
  7 in total

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