Xiao Xueshan

Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.

The six novel mutations and high frequency of p.R255W suggest ethnical differences in the BEST1 mutation spectrum among Chinese patients.

Clinical features of patients with mutations in genes for nanophthalmos.

Totally, 67 patients from 63 families harboured 57 P/LP variants in the four genes, including 30 in(47.6%), 23 in(36.5%), 5 in(7.9%) and 5 in(7.9%).