MALATTIA LEVENTINESE/DOYNE HONEYCOMB RETINAL DYSTROPHY IN A CHINESE FAMILY WITH MUTATION OF THE EFEMP1 GENE

Abstract

The R345W mutation in EFEMP1 caused Malattia leventinese/Doyne honeycomb retinal dystrophy in a Chinese family. This is the first report, as per our knowledge, of the R345W mutation in EFEMP1 in a Chinese pedigree of this disease.