Ectopia lentis

Definition:

Ectopia lentis (EL) is defined as displacement or malposition of the crystalline lens of the eye and is inherited in either autosomal recessive or autosomal dominant manner. Subluxation of the lens is slowly progressive in the first two decades of life. EL may occur as an isolated form or as a part of disorders. Up to about 80% of Marfan syndrome (MFS) patients have bilateral EL.

References:

[1]. Dina Ahram, et al. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Am J Hum Genet. 2009 Feb;84(2):274-8. [Content Brief]

[2]. Lesley C Adès, et al. Ectopia lentis phenotypes and the FBN1 gene. Am J Med Genet A. 2004 Apr 30;126A(3):284-9. [Content Brief]

[3]. M J Edwards, et al. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. Am J Med Genet. 1994 Oct 15;53(1):65-71. [Content Brief]

[4]. Terri L Young, et al. Ophthalmic genetics/inherited eye disease. Curr Opin Ophthalmol. 2003 Oct;14(5):296-303. [Content Brief]

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