Abstract:

Objective To investigate the mutations of BEST-1 gene in the patients who come from two different pedigrees with Best vitelliform macular dystrophy (BVMD) by molecular genetic analysis. Design Gene analysis. Participants Two BVMD pedigrees which have 4 and 3 individuals repectively and 50 normal controls. Methods The members of the two pedigrees received ocular examination, including best-corrected visual acuity, slit-lamp examination, fundus examination, fundus photography, EOG, fundus fluorescein angiography (FFA) and fundus autoflorescence. Direct DNA sequencing of the 11 exons of BEST-1 gene was used to detect the BEST-1 mutation in family members．Main Outcome Measures  BEST-1 sequencing map. Results In pedigrees 1, two patients exhibited yellowish lesions in the macular area of single eye. One of the two was able to conduct the EOG, which showed the Arden rate is 1.08 (<1.5). Genetic testing showed that the both had a point mutation (C.401C>G) at exon 4 of BEST-1 gene,which causes the 105th amino acid changed from Arg to Gly. In pedigrees 2, a BEST-1 missense mutation c.236T>A (p.Tyr50Asn) was identified in one patient and one normal individual cilinicaly. Other individuals in two pedigrees with normal retina had no mutations of Arg105Gly or Tyr50Asn, as well as the 50 normal controls. Conclusion The novel c.401C>G、c.236T>A mutation made a definite diagnosis of BVMD genetically in current study.

Key words: BEST vitelliform macular dystrophy, BEST-1 gene, novel mutations