ADAMTSL4 mutations seem to be the most common cause of isolated ectoplia lentis 
(EL) and thus are important concerning the differential diagnosis of connective 
tissue syndromes with EL as main feature. In this study, we describe an 
additional cohort of patients with apparently isolated EL. All underwent a 
detailed clinical exam with cardiac evaluation combined with ADAMTSL4 mutation 
analysis. Mutations were identified in 12/15 patients with EL. Besides the 
European founder mutation p. (Gln256Profs*38) we identified five further 
mutations not yet described in the literature: p. (Leu249Tyrfs*21), p. 
(Ala388Glyfs*8), p. (Arg746His), p. (Gly592Ser), and p. (Arg865His). Clinical 
evaluation showed common additional ocular features such as high myopia, but no 
major systemic findings. In particular: no dilatation of the aortic root was 
reported on. This report increases the total number of patients with ADAMTSL4 
mutations reported on today and reviews in detail the clinical findings in all 
patients reported on to date demonstrate, that these patients have a mainly 
ocular phenotype. There are no consistent systemic findings. The differentiation 
between syndromic and isolated EL is crucial for the further surveillance, 
treatment, and counseling of these patients, especially in young children.