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Opacification of the corneal epithelium

MedGen UID:
336534
Concept ID:
C1849198
Finding
Synonym: Superficial corneal opacities
 
HPO: HP:0007727

Definition

Lack of transparency of the corneal epithelium. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOpacification of the corneal epithelium

Conditions with this feature

Sjögren-Larsson syndrome
MedGen UID:
11443
Concept ID:
C0037231
Disease or Syndrome
Sjogren-Larsson syndrome (SLS) is an autosomal recessive, early childhood-onset disorder characterized by ichthyosis, impaired intellectual development, spastic paraparesis, macular dystrophy, and leukoencephalopathy. It is caused by deficiency of fatty aldehyde dehydrogenase (summary by Lossos et al., 2006).

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
Zernii EY, Baksheeva VE, Yani EV, Philippov PP, Senin II
Curr Med Chem 2019;26(3):517-545. doi: 10.2174/0929867324666170609080920. PMID: 28595546
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

Recent clinical studies

Etiology

Raber IM, Eagle RC Jr
Cornea 2022 Feb 1;41(2):183-191. doi: 10.1097/ICO.0000000000002716. PMID: 34620763
Módis LV, Varkoly G, Bencze J, Hortobágyi TG, Módis L Jr, Hortobágyi T
Mol Vis 2021;27:26-36. Epub 2021 Jan 15 PMID: 33633437Free PMC Article
Ziaei M, Greene C, Green CR
Adv Drug Deliv Rev 2018 Feb 15;126:162-176. Epub 2018 Jan 31 doi: 10.1016/j.addr.2018.01.006. PMID: 29355667
Patel SP, Parker MD
Biomed Res Int 2015;2015:475392. Epub 2015 Sep 16 doi: 10.1155/2015/475392. PMID: 26451371Free PMC Article
Souza PM, Holland EJ, Huang AJ
Ophthalmology 2003 Mar;110(3):493-6. doi: 10.1016/S0161-6420(02)01772-4. PMID: 12623810

Diagnosis

Raber IM, Eagle RC Jr
Cornea 2022 Feb 1;41(2):183-191. doi: 10.1097/ICO.0000000000002716. PMID: 34620763
Taurone S, Spoletini M, Ralli M, Gobbi P, Artico M, Imre L, Czakò C, Kovàcs I, Greco A, Micera A
Immunol Res 2019 Jun;67(2-3):280-289. doi: 10.1007/s12026-019-09087-7. PMID: 31327149
Basche M, Kampik D, Kawasaki S, Branch MJ, Robinson M, Larkin DF, Smith AJ, Ali RR
Hum Gene Ther 2018 Oct;29(10):1140-1152. Epub 2018 Sep 14 doi: 10.1089/hum.2018.115. PMID: 30070149
Riedl JC, Wasielica-Poslednik J, Weyer-Elberich V, Vossmerbaeumer U, Pfeiffer N, Lisch W, Gericke A
Acta Ophthalmol 2018 Dec;96(8):e974-e978. Epub 2018 Apr 19 doi: 10.1111/aos.13800. PMID: 29671946
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

Therapy

Entchev E, Antonelli S, Mauro V, Cimbolini N, Jantzen I, Roussey A, Germain JM, Zhang H, Luccarrini JM, Lacombe O, Young SP, Feraille L, Tallandier M
Mol Genet Metab 2022 Feb;135(2):143-153. Epub 2021 Jul 25 doi: 10.1016/j.ymgme.2021.07.008. PMID: 34417096
Zernii EY, Baksheeva VE, Yani EV, Philippov PP, Senin II
Curr Med Chem 2019;26(3):517-545. doi: 10.2174/0929867324666170609080920. PMID: 28595546
Basche M, Kampik D, Kawasaki S, Branch MJ, Robinson M, Larkin DF, Smith AJ, Ali RR
Hum Gene Ther 2018 Oct;29(10):1140-1152. Epub 2018 Sep 14 doi: 10.1089/hum.2018.115. PMID: 30070149
Wirostko B, Rafii M, Sullivan DA, Morelli J, Ding J
Ocul Surf 2015 Jul;13(3):204-212.e1. Epub 2015 Mar 28 doi: 10.1016/j.jtos.2014.12.005. PMID: 26045234Free PMC Article
Souza PM, Holland EJ, Huang AJ
Ophthalmology 2003 Mar;110(3):493-6. doi: 10.1016/S0161-6420(02)01772-4. PMID: 12623810

Prognosis

Raber IM, Eagle RC Jr
Cornea 2022 Feb 1;41(2):183-191. doi: 10.1097/ICO.0000000000002716. PMID: 34620763
Taurone S, Spoletini M, Ralli M, Gobbi P, Artico M, Imre L, Czakò C, Kovàcs I, Greco A, Micera A
Immunol Res 2019 Jun;67(2-3):280-289. doi: 10.1007/s12026-019-09087-7. PMID: 31327149
Patel SP, Parker MD
Biomed Res Int 2015;2015:475392. Epub 2015 Sep 16 doi: 10.1155/2015/475392. PMID: 26451371Free PMC Article
Farooq AV, Shukla D
Surv Ophthalmol 2012 Sep;57(5):448-62. Epub 2012 Apr 28 doi: 10.1016/j.survophthal.2012.01.005. PMID: 22542912Free PMC Article
Souza PM, Holland EJ, Huang AJ
Ophthalmology 2003 Mar;110(3):493-6. doi: 10.1016/S0161-6420(02)01772-4. PMID: 12623810

Clinical prediction guides

Ono T, Takahashi S, Hisai T, Kato M, Mori Y, Nejima R, Iwasaki T, Miyata K
Cutan Ocul Toxicol 2023 Dec;42(4):185-189. Epub 2023 Jun 30 doi: 10.1080/15569527.2023.2227902. PMID: 37343231
Damala M, Sahoo A, Pakalapati N, Singh V, Basu S
Cells 2023 Mar 11;12(6) doi: 10.3390/cells12060876. PMID: 36980217Free PMC Article
Alvarez-Fischer M, de Toledo JA, Barraquer RI
Cornea 2005 May;24(4):494-5. doi: 10.1097/01.ico.0000141224.32893.c2. PMID: 15829814
Souza PM, Holland EJ, Huang AJ
Ophthalmology 2003 Mar;110(3):493-6. doi: 10.1016/S0161-6420(02)01772-4. PMID: 12623810
Kivelä T, Uusitalo M
Prog Retin Eye Res 1998 Jul;17(3):385-428. doi: 10.1016/s1350-9462(98)00001-9. PMID: 9695798

Recent systematic reviews

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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