A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.
Br J Ophthalmol
; 92(11): 1467-70, 2008 Nov.
Article
in En
| MEDLINE
| ID: mdl-18703557
ABSTRACT
AIMS:
To describe clinical and genetic findings in an Italian family affected by Best disease.METHODS:
Five related patients underwent a complete ophthalmological assessment; genetic testing was performed by single-strand conformation polymorphism analysis and direct sequencing of the BEST1 gene.RESULTS:
In three of five family members, the sequence analysis of the BEST1 gene revealed a single Phe-to-Leu transition at nucleotide 305 associated with clinical evidence of Best disease. Surprisingly, the electro-oculogram was normal in all affected patients.CONCLUSION:
This study reveals a de novo mutation in the BEST1 gene never described before, sustaining the autosomal-dominant pattern of inheritance of the disease. Clinical evaluation showed phenotypic variability between affected members. In addition, these data suggest that a normal electro-oculography (EOG) does not rule out a diagnosis of Best disease, supporting instead the crucial role of molecular analysis.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Corneal Dystrophies, Hereditary
/
Chloride Channels
/
Mutation, Missense
/
Eye Proteins
Limits:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
En
Journal:
Br J Ophthalmol
Year:
2008
Document type:
Article
Affiliation country: