ECEL1 and arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome: Endothelin-converting enzyme-like 1 (ECEL1, also termed DINE in rodents [13, 16]), a membrane-bound metalloprotease, has recently been identified as a gene responsible for the autosomal recessive type 5 form of DA (DA5) [MIM 615065] [8, 21], originally characterized by its ocular phenotypes [10].