Author/Editor		Glavač, Damjan; Jarc-Vidmar, Martina; Vrabec, Katarina; Ravnik-Glavač, Metka; Fakin, Ana; Hawlina, Marko
Title		Clinical and genetic heterogeneity in Slovenian patients with BEST disease
Type		članek
Source		2654636
Vol. and No.		Letnik 94, št. 8
Publication year		2016
Volume		str. e786-e794
ISSN		1755-3768 - Acta ophthalmologica
Language		eng
Abstract		Purpose To determine the spectrum of BEST1 mutations and to study the phenotype in Slovenian families with Best vitelliform macular dystrophy (BVMD) to identify genotype-phenotype correlations. Methods Twenty patients from five families underwent the ophthalmological examination including electrooculogram (EOG; N = 17), fundus autofluorescence imaging (N = 16) and optical coherence tomography (N = 14). Mutational screening was performed by direct DNA sequencing of the BEST1 gene. Results Mutation c.43G>C (p.Gly15Arg) was detected in three patients from family M presenting with different clinical stages of Best disease. Mutation c.313G>C (p.Arg105Gly) was found in families K, ST, S, B and was associated with incomplete clinical penetrance and variable retinal changes, including extramacular and multifocal lesions. In three patients from family K, an atypical form of BVMD was observed; there were additional peripheral lesions outside of the vascular arcades in addition to the typical macular lesions. Multiple alterations between the vitelliruptive and pseudohypopyon stages over a period of 11 years were seen in one patient. Conclusion Two previously unreported disease-associated variants in the BEST1 gene (p.Gly15Arg and p.Arg105Gly) were found in Slovenian patients with Best disease. Our data expand the mutation spectrum of the BEST1 gene and further support the broad phenotypic variability observed clinically and with optical coherence tomography (OCT) and AF imaging.
Keywords		macular dystrophy genetic eye disease BEST1 gene distrofija makule genetska bolezen oči gen BEST1