Notably, distal arthrogryposis type 5 can be associated with blepharophimosis, ptosis and ophthalmoplegia (Sahni et al. 2004), and one genetic cause is biallelic variants in the endothelin-converting enzyme-like 1 (ECEL1) gene (Dieterich et al. 2013; McMillin et al. 2013; Shaheen et al. 2014). Here, ECEL1 is linked to Arthrogryposis with oculomotor limitation and electroretinal anomalies.