SHH and Anophthalmia: We found that (I) TMEM107 is specifically and strongly expressed in NR of the developing eye; (II) loss of TMEM107 leads to distinctive ocular phenotypes including anophthalmia and microphthalmia associated with a truncated ON; (III) the expression of crucial genes in eye development is altered in the absence of TMEM107; (IV) TMEM107 is critical for ciliogenesis and Shh signaling, and its absence leads to the disruption of primary cilia and aberrant Shh signaling; and (V) TMEM107 deficiency is associated with the generation of cysts.