Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2001 Jun;22(2):107-15.
doi: 10.1076/opge.22.2.107.2226.

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

L Eksandh  1 , B Bakall, B Bauer, C Wadelius, S Andréasson
Affiliations

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

L Eksandh et al. Ophthalmic Genet. 2001 Jun.

Abstract

Purpose: To describe the clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene.

Methods: The genotype was determined by direct sequence analysis of the individual exons of VMD2. Nine members of a family with BMD were examined. The examination included best-corrected visual acuity, electro-oculography (EOG), fundus examination, and photography. Four of the patients were also examined with full-field ERG and three with multifocal ERG.

Results: A T-to-C substitution was identified at position 370 in the cDNA of VMD2, leading to a Val89Ala change in the protein. Six patients, five with the Val89Ala mutation and a nine-year-old boy without the mutation, presented with a pathological Arden ratio on EOG examination. Most of the patients with BMD in this family had an onset of visual failure by the age of 40-50 years. The older patients in the family demonstrated atrophic macular dystrophy.

Conclusions: Patients with BMD and the Val89Ala mutation in the VMD2 gene can present with a phenotype of a mostly late-onset visual failure. These BMD patients, who present with visual failure and macular degeneration in middle age, can be misdiagnosed as being affected with adult-onset macular dystrophies instead of BMD, because the latter is often regarded as a disease of childhood and adolescence.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

MeSH terms

LinkOut - more resources