A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis.


Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal… (More)
DOI: 10.1016/j.ajhg.2009.01.007


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