U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Isolated ectopia lentis(ECTOL1)

MedGen UID:
342716
Concept ID:
C1851286
Disease or Syndrome
Synonym: ECTOL1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: ADAMTSL4, FBN1
 
Monarch Initiative: MONDO:0015998
Orphanet: ORPHA1885

Definition

Isolated ectopia lentis (IEL) is a rare, clinically variable, eye disorder characterized by dislocation of the lens, often causing significant reduction in visual acuity. [from ORDO]

Professional guidelines

PubMed

Zhou Y, Guo D, Cao Q, Zhang X, Jin G, Zheng D
Mol Med Rep 2021 Apr;23(4) Epub 2021 Feb 12 doi: 10.3892/mmr.2021.11914. PMID: 33576469Free PMC Article
Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G
Invest Ophthalmol Vis Sci 2012 Jul 24;53(8):4889-96. doi: 10.1167/iovs.12-9874. PMID: 22736615
Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T
Hum Mutat 2002 Sep;20(3):153-61. doi: 10.1002/humu.10113. PMID: 12203987

Recent clinical studies

Etiology

Huang L, Xu T, Gan J, Mao Y, Zhao L, Jiao X, Fan M, Wang T, Zhang D, Xu M, Zhu Y, Hejtmancik JF, Liu X
J Glaucoma 2023 Jul 1;32(7):e80-e89. Epub 2023 Mar 20 doi: 10.1097/IJG.0000000000002209. PMID: 36946977
van Bysterveldt KA, Al Taie R, Ikink W, Oliver VF, Vincent AL
Ophthalmic Genet 2017 Dec;38(6):537-543. Epub 2017 Apr 10 doi: 10.1080/13816810.2017.1309552. PMID: 28394649
Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G
Invest Ophthalmol Vis Sci 2012 Jul 24;53(8):4889-96. doi: 10.1167/iovs.12-9874. PMID: 22736615
Park SC, Chung ES, Chung TY, Kim SA, Oh SY
Jpn J Ophthalmol 2010 May;54(3):232-8. Epub 2010 Jun 25 doi: 10.1007/s10384-009-0797-x. PMID: 20577858
Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G
Am J Med Genet A 2009 May;149A(5):854-60. doi: 10.1002/ajmg.a.32809. PMID: 19353630

Diagnosis

Wei H, Meng X, Qin H, Li X
J Med Case Rep 2023 Dec 26;17(1):532. doi: 10.1186/s13256-023-04272-7. PMID: 38146062Free PMC Article
Huang L, Xu T, Gan J, Mao Y, Zhao L, Jiao X, Fan M, Wang T, Zhang D, Xu M, Zhu Y, Hejtmancik JF, Liu X
J Glaucoma 2023 Jul 1;32(7):e80-e89. Epub 2023 Mar 20 doi: 10.1097/IJG.0000000000002209. PMID: 36946977
Guo D, Yang F, Zhou Y, Zhang X, Cao Q, Jin G, Zheng D
Br J Ophthalmol 2023 Jun;107(6):774-779. Epub 2022 Jan 18 doi: 10.1136/bjophthalmol-2021-320475. PMID: 35042684
Zhou Y, Guo D, Cao Q, Zhang X, Jin G, Zheng D
Mol Med Rep 2021 Apr;23(4) Epub 2021 Feb 12 doi: 10.3892/mmr.2021.11914. PMID: 33576469Free PMC Article
Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH, Arno G
Clin Genet 2015 Mar;87(3):284-7. Epub 2014 Mar 6 doi: 10.1111/cge.12358. PMID: 24635535

Prognosis

Huang L, Xu T, Gan J, Mao Y, Zhao L, Jiao X, Fan M, Wang T, Zhang D, Xu M, Zhu Y, Hejtmancik JF, Liu X
J Glaucoma 2023 Jul 1;32(7):e80-e89. Epub 2023 Mar 20 doi: 10.1097/IJG.0000000000002209. PMID: 36946977
van Bysterveldt KA, Al Taie R, Ikink W, Oliver VF, Vincent AL
Ophthalmic Genet 2017 Dec;38(6):537-543. Epub 2017 Apr 10 doi: 10.1080/13816810.2017.1309552. PMID: 28394649
Christensen AE, Fiskerstrand T, Knappskog PM, Boman H, Rødahl E
Invest Ophthalmol Vis Sci 2010 Dec;51(12):6369-73. Epub 2010 Aug 11 doi: 10.1167/iovs.10-5597. PMID: 20702823
Park SC, Chung ES, Chung TY, Kim SA, Oh SY
Jpn J Ophthalmol 2010 May;54(3):232-8. Epub 2010 Jun 25 doi: 10.1007/s10384-009-0797-x. PMID: 20577858

Clinical prediction guides

Huang L, Xu T, Gan J, Mao Y, Zhao L, Jiao X, Fan M, Wang T, Zhang D, Xu M, Zhu Y, Hejtmancik JF, Liu X
J Glaucoma 2023 Jul 1;32(7):e80-e89. Epub 2023 Mar 20 doi: 10.1097/IJG.0000000000002209. PMID: 36946977
Zhou Y, Guo D, Cao Q, Zhang X, Jin G, Zheng D
Mol Med Rep 2021 Apr;23(4) Epub 2021 Feb 12 doi: 10.3892/mmr.2021.11914. PMID: 33576469Free PMC Article
van Bysterveldt KA, Al Taie R, Ikink W, Oliver VF, Vincent AL
Ophthalmic Genet 2017 Dec;38(6):537-543. Epub 2017 Apr 10 doi: 10.1080/13816810.2017.1309552. PMID: 28394649
Yang G, Chu M, Zhai X, Zhao J
Mol Vis 2012;18:945-50. Epub 2012 Apr 13 PMID: 22539873Free PMC Article
Kaul H, Riazuddin SA, Qazi ZA, Nasir IA, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S
Arch Ophthalmol 2010 Aug;128(8):1046-9. doi: 10.1001/archophthalmol.2010.165. PMID: 20697006Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...