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Lens subluxation

MedGen UID:
9718
Concept ID:
C0023316
Disease or Syndrome
Synonyms: Lens Subluxation; Lens Subluxations; Subluxation, Lens; Subluxations, Lens
SNOMED CT: Subluxation of lens (65814009); Partial dislocation of lens (65814009)
 
HPO: HP:0001132
Monarch Initiative: MONDO:0001271

Definition

Partial dislocation of the lens of the eye. [from HPO]

Conditions with this feature

Pseudoexfoliation glaucoma
MedGen UID:
60133
Concept ID:
C0206368
Disease or Syndrome
Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age worldwide and is biomicroscopically diagnosed by abnormal microfibrillar deposits on ocular structures that line the aqueous-bathed surfaces of the anterior segment (summary by Schlotzer-Schrehardt and Naumann, 2006).
Aniridia 2
MedGen UID:
138010
Concept ID:
C0344543
Congenital Abnormality
Classic homocystinuria
MedGen UID:
199606
Concept ID:
C0751202
Disease or Syndrome
Homocystinuria caused by cystathionine ß-synthase (CBS) deficiency is characterized by involvement of the eye (ectopia lentis and/or severe myopia), skeletal system (excessive height, long limbs, scolioisis, and pectus excavatum), vascular system (thromboembolism), and CNS (developmental delay/intellectual disability). All four ? or only one ? of the systems can be involved; expressivity is variable for all of the clinical signs. It is not unusual for a previously asymptomatic individual to present in adult years with only a thromboembolic event that is often cerebrovascular. Two phenotypic variants are recognized, B6-responsive homocystinuria and B6-non-responsive homocystinuria. B6-responsive homocystinuria is usually milder than the non-responsive variant. Thromboembolism is the major cause of early death and morbidity. IQ in individuals with untreated homocystinuria ranges widely, from 10 to 138. In B6-responsive individuals the mean IQ is 79 versus 57 for those who are B6-non-responsive. Other features that may occur include: seizures, psychiatric problems, extrapyramidal signs (e.g., dystonia), hypopigmentation of the skin and hair, malar flush, livedo reticularis, and pancreatitis.
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
MedGen UID:
330396
Concept ID:
C1832167
Disease or Syndrome
Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera (Patel et al., 2014).
Marfanoid habitus with situs inversus
MedGen UID:
323046
Concept ID:
C1836994
Disease or Syndrome
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
MedGen UID:
324684
Concept ID:
C1837073
Disease or Syndrome
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) is characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction (summary by Hoover-Fong et al., 2014). Yamamoto et al. (2014) reviewed 16 reported cases of SMDCRD, noting that all affected individuals presented uniform skeletal findings, with rhizomelia and bowed lower limbs observed in the first year of life, whereas retinal dystrophy had a more variable age of onset. There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild. Visual loss was progressive, with stabilization in adolescence.
Myopia, high, with cataract and vitreoretinal degeneration
MedGen UID:
481976
Concept ID:
C3280346
Disease or Syndrome
Coloboma, ocular, autosomal recessive
MedGen UID:
860411
Concept ID:
C4011974
Disease or Syndrome
Coloboma is an ocular birth defect resulting from abnormal development of the eye during embryogenesis. It is defined as a congenital defect in any ocular tissue, typically presenting as absent tissue or a gap, at a site consistent with aberrant closure of the optic fissure. Failure of fusion can lead to coloboma of 1 or multiple regions of the inferior portion of the eye affecting any part of the globe traversed by the fissure, from the iris to the optic nerve, including the ciliary body, retina, and choroid. Coloboma is also frequently associated with small (microphthalmic) or absent (anophthalmic) eyes as part of an interrelated spectrum of developmental eye anomalies, and can affect either one or both eyes (summary by Kelberman et al., 2014). For a discussion of genetic heterogeneity of ocular coloboma, see 120200.
Isolated congenital megalocornea
MedGen UID:
1385311
Concept ID:
C4518341
Congenital Abnormality
Isolated congenital megalocornea is a genetic, non-syndromic developmental defect of the anterior eye segment. The disease has characteristics of bilateral enlargement of the corneal diameter and a deep anterior eye chamber, without an elevation in intraocular pressure. It can manifest with mild to moderate myopia as well as photophobia and iridodonesis (due to iris hypoplasia). Associated complications include lens dislocation, retinal detachment, presenile cataract development and secondary glaucoma. There is evidence this disease is caused by mutation in the CHRDL1 gene on chromosome Xq23.
Knobloch syndrome 1
MedGen UID:
1642123
Concept ID:
C4551775
Disease or Syndrome
Knobloch syndrome-1 (KNO1) is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011). Genetic Heterogeneity of Knobloch Syndrome KNO2 (618458) is caused by mutation in the PAK2 gene (605022) on chromosome 3q29.

Professional guidelines

PubMed

Yi X, Meng F, Bi Y, He L, Qian J, Xue K
Br J Ophthalmol 2024 Mar 20;108(4):566-570. doi: 10.1136/bjo-2022-322449. PMID: 36997291
Guo T, Shi W, Yi X, Huang T, Huang P, Xue K
BMC Ophthalmol 2023 Jun 7;23(1):258. doi: 10.1186/s12886-023-02972-8. PMID: 37286933Free PMC Article
Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS
Mol Genet Genomic Med 2021 May;9(5):e1628. Epub 2021 May 5 doi: 10.1002/mgg3.1628. PMID: 33951325Free PMC Article

Recent clinical studies

Etiology

Yüksel N, Yılmaz Tuğan B
Turk J Ophthalmol 2023 Aug 19;53(4):247-256. doi: 10.4274/tjo.galenos.2023.76300. PMID: 37602651Free PMC Article
Wang A, Mou D, Wang N, Wang H
Contrast Media Mol Imaging 2022;2022:7030866. Epub 2022 Aug 21 doi: 10.1155/2022/7030866. PMID: 36051917Free PMC Article
Kristianslund O, Dalby M, Drolsum L
J Cataract Refract Surg 2021 Jul 1;47(7):942-954. doi: 10.1097/j.jcrs.0000000000000605. PMID: 33750091
de Oliveira Dias JR, Ventura CV, de Paula Freitas B, Prazeres J, Ventura LO, Bravo-Filho V, Aleman T, Ko AI, Zin A, Belfort R Jr, Maia M; Zika Virus Study Group
Prog Retin Eye Res 2018 Sep;66:85-106. Epub 2018 Apr 24 doi: 10.1016/j.preteyeres.2018.04.004. PMID: 29698814
Yamane S, Sato S, Maruyama-Inoue M, Kadonosono K
Ophthalmology 2017 Aug;124(8):1136-1142. Epub 2017 Apr 27 doi: 10.1016/j.ophtha.2017.03.036. PMID: 28457613

Diagnosis

Yüksel N, Yılmaz Tuğan B
Turk J Ophthalmol 2023 Aug 19;53(4):247-256. doi: 10.4274/tjo.galenos.2023.76300. PMID: 37602651Free PMC Article
Wang A, Mou D, Wang N, Wang H
Contrast Media Mol Imaging 2022;2022:7030866. Epub 2022 Aug 21 doi: 10.1155/2022/7030866. PMID: 36051917Free PMC Article
Yu X, Chen W, Xu W
J Cataract Refract Surg 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. PMID: 32694307
Jones WL
Optom Clin 1991;1(2):125-42. PMID: 1799823
Nelson LB, Maumenee IH
Surv Ophthalmol 1982 Nov-Dec;27(3):143-60. doi: 10.1016/0039-6257(82)90069-8. PMID: 6984233

Therapy

Kristianslund O, Dalby M, Drolsum L
J Cataract Refract Surg 2021 Jul 1;47(7):942-954. doi: 10.1097/j.jcrs.0000000000000605. PMID: 33750091
Vazquez-Ferreiro P, Carrera-Hueso FJ, Fikri-Benbrahim N, Barreiro-Rodriguez L, Diaz-Rey M, Ramón Barrios MA
Acta Ophthalmol 2017 May;95(3):e164-e169. Epub 2016 Aug 29 doi: 10.1111/aos.13234. PMID: 27569700
Fadlallah A, Bourges JL, Rousseau A, Hay A, Mehanna C
JAMA Ophthalmol 2015 Jan;133(1):e141793. Epub 2015 Jan 8 doi: 10.1001/jamaophthalmol.2014.1793. PMID: 25569316
Ammash NM, Sundt TM, Connolly HM
Curr Probl Cardiol 2008 Jan;33(1):7-39. doi: 10.1016/j.cpcardiol.2007.10.001. PMID: 18155514
Nelson LB, Maumenee IH
Surv Ophthalmol 1982 Nov-Dec;27(3):143-60. doi: 10.1016/0039-6257(82)90069-8. PMID: 6984233

Prognosis

Xu P, Ng K, Jin L, Young CA, Liu S, Liang X, Liu Z, Zhang X, Jin G, Zheng D
BMJ Open 2023 Jun 27;13(6):e072542. doi: 10.1136/bmjopen-2023-072542. PMID: 37369426Free PMC Article
Kojima T, Kitazawa Y, Nakamura T, Kamiya K, Ichikawa K, Igarashi A, Shimizu K
PLoS One 2022;17(2):e0264015. Epub 2022 Feb 14 doi: 10.1371/journal.pone.0264015. PMID: 35157743Free PMC Article
Ammash NM, Sundt TM, Connolly HM
Curr Probl Cardiol 2008 Jan;33(1):7-39. doi: 10.1016/j.cpcardiol.2007.10.001. PMID: 18155514
Reisman RE
Curr Opin Allergy Clin Immunol 2005 Aug;5(4):355-8. doi: 10.1097/01.all.0000173782.35283.b6. PMID: 15985819
Kim IK, Miller JW
Semin Ophthalmol 2002 Sep-Dec;17(3-4):162-6. doi: 10.1076/soph.17.3.162.14779. PMID: 12759846

Clinical prediction guides

Yüksel N, Yılmaz Tuğan B
Turk J Ophthalmol 2023 Aug 19;53(4):247-256. doi: 10.4274/tjo.galenos.2023.76300. PMID: 37602651Free PMC Article
Rezar-Dreindl S, Eibenberger K, Told R, Unterluggauer V, Sacu S, Schmidt-Erfurth U, Stifter E
Curr Eye Res 2022 Aug;47(8):1186-1192. Epub 2022 Apr 25 doi: 10.1080/02713683.2022.2066698. PMID: 35416099
Watane A, Botsford BW, Sood AB, Williams AM, Xu D, Gupta RR, Conner IP, Sivalingam A, Gupta OP, Ward MS, Mehta S, Cid MD, Crossan A, Sierpina DI, Hwang FS, Rachitskaya A, Ehmann DS, Kovacs KD, Orlin A, Zhang AY, Patel U, Dubovy S, Klufas MA, Patel NA, Sridhar J, Yannuzzi NA
Am J Ophthalmol 2021 Jan;221:273-278. Epub 2020 Aug 8 doi: 10.1016/j.ajo.2020.07.049. PMID: 32777376
Wollensak G, Green WR, Seiler T
Jpn J Ophthalmol 2002 Mar-Apr;46(2):193-7. doi: 10.1016/s0021-5155(01)00493-2. PMID: 12062226
Ajamian PC
Optom Clin 1993;3(2):49-56. PMID: 8268696

Recent systematic reviews

Yu X, Chen W, Xu W
J Cataract Refract Surg 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. PMID: 32694307
Schmitz G, Long B, April MD
Ann Emerg Med 2020 Dec;76(6):767-769. Epub 2020 Jun 17 doi: 10.1016/j.annemergmed.2020.04.036. PMID: 32563602
Vazquez-Ferreiro P, Carrera-Hueso FJ, Fikri-Benbrahim N, Barreiro-Rodriguez L, Diaz-Rey M, Ramón Barrios MA
Acta Ophthalmol 2017 May;95(3):e164-e169. Epub 2016 Aug 29 doi: 10.1111/aos.13234. PMID: 27569700
Vanner EA, Stewart MW
Am J Ophthalmol 2011 Sep;152(3):345-357.e3. Epub 2011 Jun 17 doi: 10.1016/j.ajo.2011.02.010. PMID: 21683330

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