Ectopia lentis (EL) is a zonular disease where alteration of the zonular fibers 
leads progressively to lens dislocation. It is most often associated with 
systemic diseases such as Marfan syndrome, Weill-Marchesani syndrome or 
homocystinuria. Isolated non syndromic ectopia lentis (IEL) is reported in 
families with autosomal inheritance, with dominant forms being more common than 
recessive. LTBP2 truncating mutations have been described as a cause of 
autosomal recessive ectopia lentis as a primary or secondary feature in patients 
showing ocular (eg, glaucoma) or extraocular manifestations (eg, Marfanoid 
habitus). Recently, ADAMTSL4 has been shown to be responsible for isolated 
autosomal recessive ectopia lentis in an inbred family. Herein we show a 
consanguineous family that carries a novel homozygous splice mutation 
IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive EL, 
thus confirming the involvement of this gene in this condition and underlining 
the major role of ADAMTS proteases in zonular fibers homeostasis.