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Limbal stem cell deficiency

MedGen UID:
295775
Concept ID:
C1561989
Disease or Syndrome
Synonym: Limbal Stem Cell Deficiency
SNOMED CT: Limbal stem cell deficiency (417089009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0032107
Monarch Initiative: MONDO:0025667
Orphanet: ORPHA171673

Definition

A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLimbal stem cell deficiency

Conditions with this feature

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
MedGen UID:
815206
Concept ID:
C3808876
Neoplastic Process
Multiple self-healing palmoplantar carcinoma (MSPC) is characterized by recurrent keratoacanthomas in palmoplantar skin as well as in conjunctival and corneal epithelia. In addition, patients experience a high susceptibility to malignant squamous cell carcinoma (summary by Zhong et al., 2016).
Warburg-cinotti syndrome
MedGen UID:
1677486
Concept ID:
C5193019
Disease or Syndrome
Warburg-Cinotti syndrome (WRCN) is characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis (Xu et al., 2018).
LADD syndrome 1
MedGen UID:
1824096
Concept ID:
C5774323
Disease or Syndrome
Lacrimoauriculodentodigital syndrome-1 (LADD1) is a multiple congenital anomaly disorder mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments (summary by Rohmann et al., 2006). Genetic Heterogeneity of Lacrimoauriculodentodigital Syndrome LADD syndrome-2 (LADD2; 620192) is caused by mutation in the FGFR3 gene (134934) on chromosome 4p16, and LADD syndrome-3 (LADD3; 620193) is caused by mutation in the FGF10 gene, an FGFR ligand, on chromosome 5p12.

Professional guidelines

PubMed

Lomelino Pinheiro R, Gil J, Quadrado MJ, Murta J
Acta Med Port 2023 Oct 2;36(10):679-682. Epub 2023 Feb 7 doi: 10.20344/amp.18960. PMID: 36749940
Jawaheer L, Anijeet D, Ramaesh K
Surv Ophthalmol 2017 Jul-Aug;62(4):522-532. Epub 2016 Nov 14 doi: 10.1016/j.survophthal.2016.11.003. PMID: 27856177
Vazirani J, Mariappan I, Ramamurthy S, Fatima S, Basu S, Sangwan VS
Ocul Surf 2016 Jul;14(3):350-64. Epub 2016 May 2 doi: 10.1016/j.jtos.2016.02.006. PMID: 27151421

Recent clinical studies

Etiology

Sharma S, Donthineni PR, Iyer G, Chodosh J, de la Paz MF, Maskati Q, Srinivasan B, Agarwal S, Basu S, Shanbhag SS
Indian J Ophthalmol 2023 Apr;71(4):1154-1166. doi: 10.4103/IJO.IJO_2817_22. PMID: 37026247Free PMC Article
Shah R, Amador C, Chun ST, Ghiam S, Saghizadeh M, Kramerov AA, Ljubimov AV
Prog Retin Eye Res 2023 Jul;95:101149. Epub 2022 Nov 25 doi: 10.1016/j.preteyeres.2022.101149. PMID: 36443219Free PMC Article
Stapleton F, Bakkar M, Carnt N, Chalmers R, Vijay AK, Marasini S, Ng A, Tan J, Wagner H, Woods C, Wolffsohn JS
Cont Lens Anterior Eye 2021 Apr;44(2):330-367. Epub 2021 Mar 25 doi: 10.1016/j.clae.2021.02.010. PMID: 33775382
Deng SX, Borderie V, Chan CC, Dana R, Figueiredo FC, Gomes JAP, Pellegrini G, Shimmura S, Kruse FE; and The International Limbal Stem Cell Deficiency Working Group
Cornea 2019 Mar;38(3):364-375. doi: 10.1097/ICO.0000000000001820. PMID: 30614902Free PMC Article
Cheung AY, Holland EJ
Curr Opin Ophthalmol 2017 Jul;28(4):377-381. doi: 10.1097/ICU.0000000000000374. PMID: 28379858

Diagnosis

Bonnet C, Gonzalez S, Deng SX
Curr Opin Ophthalmol 2024 Jul 1;35(4):309-314. Epub 2024 May 17 doi: 10.1097/ICU.0000000000001061. PMID: 38813737
Stapleton F, Bakkar M, Carnt N, Chalmers R, Vijay AK, Marasini S, Ng A, Tan J, Wagner H, Woods C, Wolffsohn JS
Cont Lens Anterior Eye 2021 Apr;44(2):330-367. Epub 2021 Mar 25 doi: 10.1016/j.clae.2021.02.010. PMID: 33775382
Bonnet C, Roberts JS, Deng SX
Exp Eye Res 2021 Apr;205:108437. Epub 2021 Feb 8 doi: 10.1016/j.exer.2021.108437. PMID: 33571530Free PMC Article
Deng SX, Borderie V, Chan CC, Dana R, Figueiredo FC, Gomes JAP, Pellegrini G, Shimmura S, Kruse FE; and The International Limbal Stem Cell Deficiency Working Group
Cornea 2019 Mar;38(3):364-375. doi: 10.1097/ICO.0000000000001820. PMID: 30614902Free PMC Article
Jirsova K, Jones GLA
Cell Tissue Bank 2017 Jun;18(2):193-204. Epub 2017 Mar 2 doi: 10.1007/s10561-017-9618-5. PMID: 28255771

Therapy

Bonnet C, Gonzalez S, Deng SX
Curr Opin Ophthalmol 2024 Jul 1;35(4):309-314. Epub 2024 May 17 doi: 10.1097/ICU.0000000000001061. PMID: 38813737
Sharma S, Donthineni PR, Iyer G, Chodosh J, de la Paz MF, Maskati Q, Srinivasan B, Agarwal S, Basu S, Shanbhag SS
Indian J Ophthalmol 2023 Apr;71(4):1154-1166. doi: 10.4103/IJO.IJO_2817_22. PMID: 37026247Free PMC Article
Stapleton F, Bakkar M, Carnt N, Chalmers R, Vijay AK, Marasini S, Ng A, Tan J, Wagner H, Woods C, Wolffsohn JS
Cont Lens Anterior Eye 2021 Apr;44(2):330-367. Epub 2021 Mar 25 doi: 10.1016/j.clae.2021.02.010. PMID: 33775382
Singhal D, Sahay P, Maharana PK, Raj N, Sharma N, Titiyal JS
Surv Ophthalmol 2019 May-Jun;64(3):289-311. Epub 2018 Dec 12 doi: 10.1016/j.survophthal.2018.12.001. PMID: 30550738
Rossen J, Amram A, Milani B, Park D, Harthan J, Joslin C, McMahon T, Djalilian A
Ocul Surf 2016 Oct;14(4):419-434. Epub 2016 Jul 30 doi: 10.1016/j.jtos.2016.06.003. PMID: 27480488Free PMC Article

Prognosis

Erdinest N, Ben-Eli H, Solomon A
Curr Opin Allergy Clin Immunol 2019 Oct;19(5):535-543. doi: 10.1097/ACI.0000000000000560. PMID: 31169598
Singhal D, Sahay P, Maharana PK, Raj N, Sharma N, Titiyal JS
Surv Ophthalmol 2019 May-Jun;64(3):289-311. Epub 2018 Dec 12 doi: 10.1016/j.survophthal.2018.12.001. PMID: 30550738
Ballios BG, Weisbrod M, Chan CC, Borovik A, Schiff JR, Tinckam KJ, Humar A, Kim SJ, Cole EH, Slomovic AR
Can J Ophthalmol 2018 Aug;53(4):314-323. Epub 2018 Jan 20 doi: 10.1016/j.jcjo.2017.10.040. PMID: 30119783
Kim KH, Mian SI
Curr Opin Ophthalmol 2017 Jul;28(4):355-362. doi: 10.1097/ICU.0000000000000387. PMID: 28426441
Holland EJ
Cornea 2015 Oct;34 Suppl 10:S9-15. doi: 10.1097/ICO.0000000000000534. PMID: 26203759

Clinical prediction guides

Oie Y, Sugita S, Yokokura S, Nakazawa T, Tomida D, Satake Y, Shimazaki J, Hara Y, Shiraishi A, Quantock AJ, Ogasawara T, Inoie M, Nishida K
Ophthalmology 2023 Jun;130(6):608-614. Epub 2023 Feb 1 doi: 10.1016/j.ophtha.2023.01.016. PMID: 36736434
Korkmaz I, Palamar M, Egrilmez S, Gurdal M, Yagci A, Barut Selver O
Exp Clin Transplant 2023 Aug;21(8):684-690. Epub 2022 Jan 3 doi: 10.6002/ect.2021.0393. PMID: 34981716
Mahmood N, Suh TC, Ali KM, Sefat E, Jahan UM, Huang Y, Gilger BC, Gluck JM
Stem Cell Rev Rep 2022 Dec;18(8):2817-2832. Epub 2022 Aug 1 doi: 10.1007/s12015-022-10435-8. PMID: 35913555
Le Q, Chauhan T, Cordova D, Tseng CH, Deng SX
Ocul Surf 2022 Jan;23:123-130. Epub 2021 Dec 10 doi: 10.1016/j.jtos.2021.12.005. PMID: 34902592
Sun Y, Yung M, Huang L, Tseng C, Deng SX
Cornea 2020 May;39(5):566-572. doi: 10.1097/ICO.0000000000002249. PMID: 31977730Free PMC Article

Recent systematic reviews

Ganger A, Singh A, Kalaivani M, Gupta N, Vanathi M, Mohanty S, Tandon R
Indian J Med Res 2021 Jul;154(1):51-61. doi: 10.4103/ijmr.IJMR_1139_18. PMID: 34782530Free PMC Article
Oie Y, Komoto S, Kawasaki R
Jpn J Ophthalmol 2021 Mar;65(2):169-183. Epub 2021 Feb 16 doi: 10.1007/s10384-021-00821-z. PMID: 33591470
Figueiredo FC, Glanville JM, Arber M, Carr E, Rydevik G, Hogg J, Okonkwo A, Figueiredo G, Lako M, Whiter F, Wilson K
Ocul Surf 2021 Apr;20:48-61. Epub 2021 Jan 4 doi: 10.1016/j.jtos.2020.12.008. PMID: 33412337
Le Q, Chauhan T, Deng SX
Surv Ophthalmol 2020 Jan-Feb;65(1):32-40. Epub 2019 Jul 2 doi: 10.1016/j.survophthal.2019.06.008. PMID: 31276736Free PMC Article
Jawaheer L, Anijeet D, Ramaesh K
Surv Ophthalmol 2017 Jul-Aug;62(4):522-532. Epub 2016 Nov 14 doi: 10.1016/j.survophthal.2016.11.003. PMID: 27856177

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