A novel mutation of unilateral best vitelliform macular dystrophy
in Chinese people

Ma Kai, Gu Hong , Jia Hongyan, Xu Jun, Yang Xiufen, Wang Ningli and Liu Ningpu

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, Beijing 100730, China

Objective: To report a novel BEST1 gene mutation in two patients with unilateral Best vitelliform macular dystrophy.

Methods: Best-corrected visual acuity, dilated fundus examination, and electro-oculography, fundus fluorescein angiography and autofluorescence photography were performed in the two patients with Best macular dystrophy and one of their relative. Both the patients and their relative also had blood samples drawn, direct sequencing of PCR-amplified DNA fragments, corresponding to the all 11 exons of the gene.

Results: A heterozygous BEST1 gene missense mutation in exon 4(Arg105Gly [CGC_GGC]) was identified in both patients. This mutation was not present in their relative and the other 50 normal peoples whose blood sample were analysis as control in this study. Clinical examination confirm that the lesions affected the patients unilaterally.

Conclusions: A novel mutation in the BEST1gene(C313G) was found in two chinese patients whose phenotype and electrooculographic findings were characteristic of unilateral Best macular dystrophy.