KEGG   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 [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   H00662  Ectopia lentis
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
FBN1 [HSA:2200] [KO:K06825]
ADAMTSL4 [HSA:54507] [KO:K23369]
Comment
For Marfan syndrome, see H00653.
Other DBs
ICD-11: LA12.Y
ICD-10: Q12.1
MeSH: D004479
OMIM: 129600 225100
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
  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
  Authors
Young TL
  Title
Ophthalmic genetics/inherited eye disease.
  Journal
Curr Opin Ophthalmol 14:296-303 (2003)
DOI:10.1097/00055735-200310000-00011
Reference
  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

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