BEST1 sequence variants in Italian patients with vitelliform macular dystrophy
Open Access
- 17 November 2012
- journal article
- Vol. 18, 2736-2748
Abstract
To analyze the spectrum of sequence variants in the BEST1 gene in a group of Italian patients affected by Best vitelliform macular dystrophy (VMD). Thirty Italian patients with a diagnosis of VMD and 20 clinically healthy relatives were recruited. They belonged to 19 Italian families predominantly originating from central Italy. They received a standard ophthalmologic examination, OCT scan, and electrophysiological tests (ERG and EOG). Fluorescein and ICG angiographies and fundus autofluorescence imaging were performed in selected cases. DNA samples were analyzed for sequence variants of the BEST1 gene by direct sequencing techniques. Nine missense variants and one deletion were found in the affected patients; each patient carried one mutation. Five variants [c.73C>T (p.Arg25Trp), c.652C>T (p.Arg218Cys), c.652C>G (p.Arg218Gly), c.728C>T (p.Ala243Val), c.893T>C (p.Phe298Ser)] have already been described in literature while another five variants [c.217A>C (p.Ile73Leu), c.239T>G (p.Phe80Cys), c.883_885del (p.Ile295del), c.907G>A (p.Asp303Asn), c.911A>G (p.Asp304Gly)] had not previously been reported. Affected patients, sometimes even from the same family, occasionally showed variable phenotypes. One heterozygous variant was also found in five clinically healthy relatives with normal fundus, visual acuity and ERG but with abnormal EOG. Ten variants in the BEST1 gene were detected in a group of individuals with clinically apparent VMD, and in some clinically normal individuals with an abnormal EOG. The high prevalence of novel variants and the frequent report of a specific variant (p.Arg25Trp) that has rarely been described in other ethnic groups suggests a distribution of BEST1 variants peculiar to Italian VMD patients.Keywords
This publication has 49 references indexed in Scilit:
- Intravitreal ranibizumab (Lucentis) for choroidal neovascularization associated with vitelliform macular dystrophyActa Ophthalmologica, 2008
- A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 geneBritish Journal of Ophthalmology, 2008
- Choroidal neovascularisation secondary to Best’s disease in a 13-year-old boy treated by intravitreal bevacizumabAlbrecht von Graefes Archiv für Ophthalmologie, 2007
- A novel mutation in the VMD2 gene in an Italian family with Best maculopathyJournal Français d'Ophtalmologie, 2007
- Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophyAlbrecht von Graefes Archiv für Ophthalmologie, 2006
- Late Onset is Common in Best Macular Dystrophy Associated with VMD2 Gene MutationsOphthalmology, 2005
- Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in best diseaseAmerican Journal of Ophthalmology, 2003
- [Macular dystrophies].2003
- Detection of retinal dysfunction in vitelliform macular dystrophy using the multifocal ERG (MF-ERG).Documenta Ophthalmologica, 2003
- Electro-oculography in Families With Vitelliform Dystrophy of the FoveaAmerican Journal of Ophthalmology, 1969