KEGG DISEASE: Ectopia lentis

DISEASE: Ectopia lentis

Entry

H00662                      Disease

Name

Ectopia lentis

Description

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.

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

Gene

(ECTOL1) FBN1 [HSA:2200] [KO:K06825]
(ECTOL2) ADAMTSL4 [HSA:54507] [KO:K23369]

Comment

For Marfan syndrome, see H00653.

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:14502058

Authors

Young TL

Title

Ophthalmic genetics/inherited eye disease.

Journal

Curr Opin Ophthalmol 14:296-303 (2003)
DOI:10.1097/00055735-200310000-00011

Reference

PMID:7802039

Authors

Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE, Kozman HM, Mulley JC

Title

Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.

Journal

Am J Med Genet 53:65-71 (1994)
DOI:10.1002/ajmg.1320530114

Reference

PMID:15054843 (ECTOL1)

Authors

Ades LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B

Title

Ectopia lentis phenotypes and the FBN1 gene.

Journal

Am J Med Genet A 126A:284-9 (2004)
DOI:10.1002/ajmg.a.20605

Reference

PMID:19200529 (ECTOL2)

Authors

Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H

Title

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

Journal

Am J Hum Genet 84:274-8 (2009)
DOI:10.1016/j.ajhg.2009.01.007

» Japanese version

All links

Disease (2)   
   OMIM (2)   
Gene (4)   
   KEGG ORTHOLOGY (2)   
   KEGG GENES (2)   
Literature (4)   
   PubMed (4)   
All databases (10)   

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