MCID: LNS001
MIFTS: 40

Lens Subluxation

Categories: Neuronal diseases

Aliases & Classifications for Lens Subluxation

MalaCards integrated aliases for Lens Subluxation:

Name: Lens Subluxation 12 29 54 6 44 15 70
Subluxation of Lens 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11364
ICD9CM 34 379.32
MeSH 44 D007906
NCIt 50 C34772
SNOMED-CT 67 155203002
ICD10 32 H27.11
UMLS 70 C0023316

Summaries for Lens Subluxation

MalaCards based summary : Lens Subluxation, also known as subluxation of lens, is related to isolated ectopia lentis and marfan syndrome. An important gene associated with Lens Subluxation is FBN1 (Fibrillin 1), and among its related pathways/superpathways are O-linked glycosylation and Diseases of glycosylation. The drugs Fentanyl and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include eye, endothelial and retina, and related phenotypes are integument and pigmentation

Wikipedia : 73 Ectopia lentis is a displacement or malposition of the eye's crystalline lens from its normal location.... more...

Related Diseases for Lens Subluxation

Diseases related to Lens Subluxation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 isolated ectopia lentis 31.3 LTBP2 FBN1 CBS ADAMTSL4 ADAMTSL2 ADAMTS17
2 marfan syndrome 30.6 MTHFR LTBP2 LOXL1 FBN1 CBS
3 intraocular pressure quantitative trait locus 30.5 PAX6 LTBP2 LOXL1 FBN1 CRYAA
4 retinal detachment 30.3 PAX6 P3H2 ADAMTSL4
5 homocysteinemia 30.2 MTHFR FBN1 CBS
6 homocystinuria 30.2 MTHFR FBN1 CBSL CBS
7 megalocornea 30.1 LTBP2 FBN1 ADAMTS17 ADAMTS10
8 amblyopia 29.9 TFAP2A PAX6 CRYAA BFSP1
9 coloboma of macula 29.8 VSX2 TFAP2A PAX6 CRYBA4 CRYAA
10 open-angle glaucoma 29.7 MTHFR LTBP2 LOXL1 FBN1 CRYAA
11 microphthalmia 29.6 VSX2 TFAP2A PAX6 CRYBA4 CRYAA
12 myopia 29.5 PAX6 P3H2 LTBP2 FBN1 CRYBA4 CRYAA
13 primary congenital glaucoma 29.5 PAX6 LTBP2 LOXL1 FBN1 CRYAA ADAMTS10
14 aniridia 1 29.2 VSX2 PAX6 LTBP2 CRYBA4 CRYAA BFSP1
15 cataract 28.9 VSX2 PAX6 P3H2 MTHFR LOXL1 GALT
16 myopia, high, with cataract and vitreoretinal degeneration 11.1
17 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 11.1
18 exencephaly 10.3 TFAP2A MTHFR
19 coloboma of iris 10.3 TFAP2A PAX6
20 lens position anomaly 10.3 FBN1 ADAMTSL4
21 microphthalmia, syndromic 8 10.3 VSX2 PAX6
22 fryns microphthalmia syndrome 10.3 VSX2 PAX6
23 morgagni cataract 10.3 LOXL1 CRYAA
24 leukocoria 10.3 VSX2 CRYAA
25 branch retinal artery occlusion 10.3 MTHFR CRYAA
26 microphthalmia, isolated 3 10.3 VSX2 PAX6
27 central retinal artery occlusion 10.3 MTHFR CRYAA
28 microphthalmia, isolated 2 10.2 VSX2 PAX6
29 isolated microspherophakia 10.2 LTBP2 ADAMTS10
30 traumatic glaucoma 10.2 LTBP2 LOXL1
31 retinal vascular occlusion 10.2 MTHFR LOXL1 CRYAA
32 congenital aphakia 10.2 VSX2 PAX6 CRYAA
33 exotropia 10.2 PAX6 FBN1 CRYAA
34 anisometropia 10.2 PAX6 CRYAA
35 esotropia 10.2 TFAP2A PAX6 CRYAA
36 cataract 24 10.2 CRYBA2 CRYAA
37 microphthalmia, isolated 1 10.2 VSX2 CRYBA4
38 cutis laxa, autosomal recessive, type ia 10.2 LOXL1 FBN1
39 stickler syndrome 10.2 LOXL1 FBN1 CRYAA
40 orbital disease 10.2 FBN1 CRYAA
41 galactosemia ii 10.2 GALT CRYAA BFSP1
42 nanophthalmos 10.2 VSX2 PAX6 LOXL1
43 cataract 48 10.2 CRYBA2 CRYAA
44 early-onset lamellar cataract 10.2 CRYBA4 CRYAA
45 keratitis, hereditary 10.2 VSX2 PAX6 CRYAA
46 presbyopia 10.2 CRYAA BFSP1
47 uveal disease 10.2 PAX6 LOXL1 CRYAA
48 corneal edema 10.1
49 primary angle-closure glaucoma 10.1
50 dermatitis 10.1

Graphical network of the top 20 diseases related to Lens Subluxation:



Diseases related to Lens Subluxation

Symptoms & Phenotypes for Lens Subluxation

MGI Mouse Phenotypes related to Lens Subluxation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.91 ADAMTS10 ADAMTS17 ADAMTSL4 CBSL FBN1 LOXL1
2 pigmentation MP:0001186 9.55 ADAMTSL4 FBN1 PAX6 TFAP2A VSX2
3 respiratory system MP:0005388 9.5 ADAMTSL2 CBSL FBN1 LOXL1 LTBP2 PAX6
4 vision/eye MP:0005391 9.4 ADAMTS10 ADAMTSL4 BFSP1 CBSL CRYBA2 LOXL1

Drugs & Therapeutics for Lens Subluxation

Drugs for Lens Subluxation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
3
Triazolam Approved, Investigational Phase 4 28911-01-5 5556
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
7 Anesthetics Phase 4
8 Hypnotics and Sedatives Phase 4
9 Proxymetacaine Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparative Analysis of Oral Sedation Versus Standard Intravenous Sedation in Vitreoretinal Surgery With Topical Anesthesia and Sub-tenon's Block Not yet recruiting NCT04346095 Phase 4 Oral Sedatives with or Without Analgesia;Intravenous Sedatives with or Without Analgesia
2 Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses: A Prospective Case Series Completed NCT01346566 Phase 3
3 Biometric Indicators of Eyes With Occult Lens Subluxation Completed NCT03752710
4 Ultrasound Biomicroscopic Analysis of Cionni Ring and In-the-bag IOL Implantation for Subluxated Lenses Completed NCT02790268
5 Efficacy of an Ocular Bandage Contact Lens for the Treatment of Dry Eye After Complicated and Combined Cataract Surgery Recruiting NCT04120389
6 Late In-the-bag intraOcular Lens dislocatioN Surgery: A Randomized Clinical Trial (LION Trial) Recruiting NCT03276104
7 Study of Subluxation Lens Biometrics and Postoperative Intraocular Lens Stability Active, not recruiting NCT04685122
8 Study of Multifunctional Cataract-assisted Retractor in Complicated Cataract Surgery Active, not recruiting NCT04062084
9 Late Dislocation of Intraocular Lens (IOL) Following Cataract Surgery: an Evaluation of Two Different Surgical Methods Active, not recruiting NCT01784926
10 CT Lucia 601 IOL Implantation in the Sulcus Enrolling by invitation NCT04796662

Search NIH Clinical Center for Lens Subluxation

Cochrane evidence based reviews: lens subluxation

Genetic Tests for Lens Subluxation

Genetic tests related to Lens Subluxation:

# Genetic test Affiliating Genes
1 Lens Subluxation 29

Anatomical Context for Lens Subluxation

MalaCards organs/tissues related to Lens Subluxation:

40
Eye, Endothelial, Retina, Skin

Publications for Lens Subluxation

Articles related to Lens Subluxation:

(show top 50) (show all 355)
# Title Authors PMID Year
1
Asymmetric pigmentary glaucoma in a patient with Marfan's syndrome. 54 61
15834601 2005
2
Determination of the molecular basis of Marfan syndrome: a growth industry. 54 61
15254580 2004
3
Visual outcomes of lens subluxation surgery with Cionni modified capsular tension rings in Marfan syndrome. 61
33542371 2021
4
Morphometric analysis of the lens in human aniridia and mouse Small eye. 61
33248069 2021
5
The simply modified intrascleral fixation using round flange (SMURF) technique for intrascleral intraocular lens fixation. 61
33594097 2021
6
Risk factors of intraocular lens dislocation following routine cataract surgery: a case-control study. 61
33689608 2021
7
In-the-Bag Intraocular Lens Subluxation in a Patient with Exfoliation Glaucoma. 61
33494866 2021
8
[Results of hybrid (femtosecond laser-assisted) phacoemulsification of hypermature cataract in patients with lens subluxation]. 61
33610148 2021
9
Scleral-Sutured Intraocular Lens Dislocations Secondary to Eyelet Fractures. 61
32777376 2021
10
Pseudophakic Angle Closure Due to Vitreous Block Following Ureteroscopic Lithotripsy. 61
33536795 2021
11
A novel approach for scleral fixation using Carlevale lens. 61
33517768 2021
12
Coexistence of bilateral macular edema and pale optic disc in the patient with Cohen syndrome. 61
33542958 2021
13
Cataract surgery in eyes with congenital ocular coloboma. 61
32886164 2020
14
The prevalence of uveitis in a population of donkeys in the UK. 61
32145036 2020
15
Crystalline Lens Subluxation Following Blunt Head Trauma. 61
33135625 2020
16
Iridoschisis-A Systematic Review. 61
33081187 2020
17
[Bilateral lens subluxation in Marfan's syndrome]. 61
32778349 2020
18
Secondary intraocular lens implantation using the flanged intrascleral fixation technique in pediatric aphakia: case series and review of literature. 61
33045378 2020
19
Iris-Claw Lens Implantation in a Patient with Iridoschisis. 61
32857754 2020
20
Outcomes of cataract surgery in pseudoexfoliation syndrome in England: 10-year retrospective cohort study. 61
32826704 2020
21
Evaluation of vitreous degeneration as a potential risk factor for retinal detachment after phacoemulsification in dogs. 61
32472635 2020
22
Incidence and management of rhegmatogenous retinal detachment after pars plana vitrectomy and sutureless scleral-fixated intraocular lens. 61
32587183 2020
23
Persistent Fetal Vasculature With Subluxated Lens, Posterior Segment Pathology, and Bifid Fibrous Membrane: An Atypical Presentation. 61
32579685 2020
24
Pharmacologic pupillary constriction after dilated fundus examination for ectopia lentis to prevent further subluxation. 61
32300672 2020
25
Cataract extraction in patients with primary congenital glaucoma. 61
30957520 2020
26
Trans-scleral plugs fixated IOL: a new paradigm for sutureless scleral fixation. 61
32358266 2020
27
New surgical approach for sutureless scleral fixation. 61
32000520 2020
28
Late spontaneous bilateral intraocular lens subluxation accompanied with intraocular pressure elevation in a patient with acromegaly. 61
32874848 2020
29
Biometric indicators of eyes with occult lens subluxation inducing secondary acute angle closure. 61
32138781 2020
30
[Scleral-fixated intraocular lenses with Z‑suture technique for lens subluxation associated with spherophakia]. 61
31222453 2020
31
Retinal break associated with traumatic lens dislocation or subluxation requiring vitrectomy. 61
31781882 2020
32
Visibility of the Retina Through an Air-Filled Anterior Chamber During Simultaneous Vitrectomy and Descemet's Stripping Automated Endothelial Keratoplasty. 61
32801620 2020
33
[Differentiated method of surgical prophylaxis against anterior capsular contraction syndrome during phacoemulsification]. 61
33063965 2020
34
Comparisons of Ocular Anatomic Differences of Lens-Subluxated Eye with or without Acute Angle Closure: A Retrospective Study. 61
32802489 2020
35
Epidemiology of Eye Injuries Resulting in Hospitalization, a Referral Hospital-Based Study. 61
32021063 2020
36
Big Bag IOL Implantation with Scleral Fixation Technique in IOL/Crystalline Lens Subluxation/Luxation Cases and High Myopia. 61
32943945 2020
37
[Comparative evaluation of positional stability of the «capsular bag + intraocular lens» complex in patients with lens subluxation]. 61
32779463 2020
38
"Sutureless scleral fixation using Carlevale lens: surgical and refractive outcomes". 61
32347697 2020
39
Doubles trouble-85 cases of ocular trauma in badminton: clinical features and prevention. 61
30988018 2020
40
Evaluation of functional outcome and stability of sutureless scleral tunnel fixated IOLs in children with ectopia lentis. 61
31956572 2020
41
Double-Flanged polypropylene Suture for Scleral Fixation of Cionni Capsule Tension Ring. 61
32368003 2020
42
Femtosecond laser-assisted cataract surgery in a spherophakic lens: An unusual case report. 61
31689746 2019
43
Pseudoexfoliative Proliferation and Lens Subluxation. 61
32672571 2019
44
Eye injury and demographic parameters associated with poor visual outcome. 61
31122763 2019
45
Intraoperative and postoperative complications of cataract surgery in eyes with pseudoexfoliation - An 8-year analysis. 61
31902990 2019
46
[Bilateral posterior lens subluxation in the context of physical abuse: Case report]. 61
31130383 2019
47
Is specialized ophthalmologic evaluation necessary after orbital fractures? A prospective 64-case study. 61
31104221 2019
48
Irreversible Ocular Lesions in a Dog With Angiostrongylus Vasorum Infection. 61
31472726 2019
49
Neglected Congenital Glaucoma With Lens Coloboma. 61
31135584 2019
50
[Application of femtosecond laser technology in the management of subluxated lens]. 61
31340919 2019

Variations for Lens Subluxation

ClinVar genetic disease variations for Lens Subluxation:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs) Deletion Pathogenic 523459 rs1554110735 GRCh37: 6:10398926-10398927
GRCh38: 6:10398693-10398694
2 FBN1 NM_000138.5(FBN1):c.364C>T SNV Pathogenic 16440 rs137854467 GRCh37: 15:48892414-48892414
GRCh38: 15:48600217-48600217
3 FBN1 NM_000138.4(FBN1):c.1481G>T (p.Cys494Phe) SNV Likely pathogenic 374079 rs1057518881 GRCh37: 15:48805853-48805853
GRCh38: 15:48513656-48513656

Expression for Lens Subluxation

Search GEO for disease gene expression data for Lens Subluxation.

Pathways for Lens Subluxation

GO Terms for Lens Subluxation

Cellular components related to Lens Subluxation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.43 P3H2 LOXL1 FBN1
2 collagen-containing extracellular matrix GO:0062023 9.35 LTBP2 LOXL1 FBN1 ADAMTSL4 ADAMTS10
3 extracellular matrix GO:0031012 9.17 LTBP2 LOXL1 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17
4 microfibril GO:0001527 9.16 FBN1 ADAMTS10

Biological processes related to Lens Subluxation according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 camera-type eye development GO:0043010 9.72 PAX6 FBN1 CRYBA4
2 lens development in camera-type eye GO:0002088 9.65 PAX6 CRYBA4 CRYBA2
3 visual perception GO:0007601 9.55 VSX2 PAX6 CRYBA4 CRYBA2 CRYAA
4 L-serine metabolic process GO:0006563 9.54 CBSL CBS
5 DNA protection GO:0042262 9.52 CBSL CBS
6 transsulfuration GO:0019346 9.51 CBSL CBS
7 L-serine catabolic process GO:0006565 9.49 CBSL CBS
8 hydrogen sulfide biosynthetic process GO:0070814 9.46 CBSL CBS
9 homocysteine catabolic process GO:0043418 9.43 CBSL CBS
10 L-cysteine catabolic process GO:0019448 9.4 CBSL CBS
11 cysteine biosynthetic process GO:0019344 9.37 CBSL CBS
12 cysteine biosynthetic process via cystathionine GO:0019343 9.32 CBSL CBS
13 cysteine biosynthetic process from serine GO:0006535 9.26 CBSL CBS
14 homocysteine metabolic process GO:0050667 9.13 MTHFR CBSL CBS
15 extracellular matrix organization GO:0030198 9.1 LOXL1 FBN1 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10

Molecular functions related to Lens Subluxation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.06 TFAP2A FBN1 CRYBA4 CRYBA2 CRYAA CBSL
2 metalloendopeptidase activity GO:0004222 9.62 ADAMTSL4 ADAMTSL2 ADAMTS17 ADAMTS10
3 S-adenosyl-L-methionine binding GO:1904047 9.48 CBSL CBS
4 nitrite reductase (NO-forming) activity GO:0050421 9.43 CBSL CBS
5 nitric oxide binding GO:0070026 9.4 CBSL CBS
6 microfibril binding GO:0050436 9.37 LTBP2 ADAMTSL2
7 cystathionine beta-synthase activity GO:0004122 9.26 CBSL CBS
8 carbon monoxide binding GO:0070025 9.16 CBS CBSL
9 modified amino acid binding GO:0072341 9.13 MTHFR CBSL CBS
10 structural constituent of eye lens GO:0005212 8.92 CRYBA4 CRYBA2 CRYAA BFSP1

Sources for Lens Subluxation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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