The 1/300 calculated carrier frequency of M1 in the population is comparable to the deep intronic founder mutation of ∼1/500 (c.2991+1655A>G) in CEP290 as the most common cause of Leber congenital amaurosis in Caucasians, but less than the ∼1/100 in TMEM216 as a cause for JS in the Ashkenazi population (den Hollander et al., 2006; Valente et al., 2010). This evidence concerns the gene TMEM216 and Leber congenital amaurosis.