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. Several genes have been identified that may be involved in the development of nonsyndromic ectopia lentis. Variable expressivity of fibrillin (FBN1) mutations has been associated with autosomal dominant forms. Recently, mutations in ADAMTSL4 have been reported in families with isolated autosomal recessive ectopia lentis. It has been shown that ectopia lentis et pupillae is also caused by the mutation in ADAMTSL4.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
LA12 Structural developmental anomalies of lens or zonula
H00662 Ectopia lentis
