Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndromeConclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1Expanding the spectrum of FOXC1 and PITX2 mutations and copy nnumber changes in patients with anterior segment malformations.Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.Sorsby fundus dystrophy without a mutation in the TIMP-3 gene