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Keratoconus 5(KTCN5)

MedGen UID:
766216
Concept ID:
C3553302
Disease or Syndrome
Synonym: KTCN5
 
Monarch Initiative: MONDO:0013830
OMIM®: 614622

Definition

Keratoconus is a noninflammatory progressive corneal thinning disorder resulting in mixed myopia and irregular astigmatism. Characteristic features include stromal thinning, Vogt striae, Fleisher ring, and scissoring of the retinoscopic reflex with a fully dilated pupil. Symptoms usually develop in the second decade and are likely to progress in the third decade, whereas progression slows after age 30 years. The progression of keratoconus may result in severe visual impairment and some affected individuals require cornea transplantation. The prevalence of keratoconus is about 1 in 2,000 in Caucasian populations, and is a leading cause for cornea transplantation in developed countries (summary by Tang et al., 2005). For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300). [from OMIM]

Clinical features

From HPO
Keratoconus
MedGen UID:
44015
Concept ID:
C0022578
Disease or Syndrome
A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex.

Professional guidelines

PubMed

Zhao L, Yin Y, Hu T, Du K, Lu Y, Fu Q, Zhang Y, Wu X, Li Y, Wen D
Acta Ophthalmol 2023 Aug;101(5):485-503. Epub 2023 Feb 12 doi: 10.1111/aos.15636. PMID: 36774646
Lim L, Lim EWL
Eye (Lond) 2020 Dec;34(12):2175-2196. Epub 2020 Jul 8 doi: 10.1038/s41433-020-1065-z. PMID: 32641797Free PMC Article
RIDLEY F
Br J Ophthalmol 1956 May;40(5):295-304. doi: 10.1136/bjo.40.5.295. PMID: 13329317Free PMC Article

Recent clinical studies

Etiology

Pellegrini M, Yu AC, Busin M
Am J Ophthalmol 2023 Jul;251:1-4. Epub 2022 Dec 18 doi: 10.1016/j.ajo.2022.12.012. PMID: 36543313
Delbarre M, Crepy P, Froussart-Maille F
Aerosp Med Hum Perform 2022 Dec 1;93(12):840-845. doi: 10.3357/AMHP.6050.2022. PMID: 36757242
Santodomingo-Rubido J, Carracedo G, Suzaki A, Villa-Collar C, Vincent SJ, Wolffsohn JS
Cont Lens Anterior Eye 2022 Jun;45(3):101559. Epub 2022 Jan 4 doi: 10.1016/j.clae.2021.101559. PMID: 34991971
Jurkiewicz T, Marty AS
Ophthalmic Epidemiol 2021 Dec;28(6):495-501. Epub 2021 Jan 27 doi: 10.1080/09286586.2021.1879173. PMID: 33502925
Kreps EO, Claerhout I, Koppen C
Cont Lens Anterior Eye 2021 Jun;44(3):101333. Epub 2020 May 21 doi: 10.1016/j.clae.2020.05.002. PMID: 32448765

Diagnosis

Bulirsch LM, Löffler KU, Holz FG, Herwig-Carl MC
Klin Monbl Augenheilkd 2023 Jun;240(6):803-809. Epub 2023 Feb 22 doi: 10.1055/a-2040-8283. PMID: 36812937
Santodomingo-Rubido J, Carracedo G, Suzaki A, Villa-Collar C, Vincent SJ, Wolffsohn JS
Cont Lens Anterior Eye 2022 Jun;45(3):101559. Epub 2022 Jan 4 doi: 10.1016/j.clae.2021.101559. PMID: 34991971
Wajnsztajn D, Solomon A
Curr Opin Allergy Clin Immunol 2021 Oct 1;21(5):507-514. doi: 10.1097/ACI.0000000000000765. PMID: 34269743
Kristianslund O, Tovås LC, Thorsrud A, Drolsum L
Tidsskr Nor Laegeforen 2021 Mar 23;141(5) Epub 2021 Mar 22 doi: 10.4045/tidsskr.20.1059. PMID: 33754677
Koppen C
Bull Soc Belge Ophtalmol 2012;(321):5, 9-23, 25-7 passim. PMID: 23252029

Therapy

Agarwal R, Jain P, Arora R
Indian J Ophthalmol 2022 May;70(5):1466-1474. doi: 10.4103/ijo.IJO_1595_21. PMID: 35502012Free PMC Article
Jacob S, Patel SR, Agarwal A, Ramalingam A, Saijimol AI, Raj JM
J Refract Surg 2018 May 1;34(5):296-303. doi: 10.3928/1081597X-20180223-01. PMID: 29738584
Yuksel E, Yalcin NG, Kilic G, Cubuk MO, Ozmen MC, Altay A, Çağlar K, Bilgihan K
Ocul Immunol Inflamm 2016;24(2):217-22. Epub 2015 Mar 11 doi: 10.3109/09273948.2014.1001518. PMID: 25760913
Koppen C
Bull Soc Belge Ophtalmol 2012;(321):5, 9-23, 25-7 passim. PMID: 23252029
Wollensak G, Spoerl E, Seiler T
Am J Ophthalmol 2003 May;135(5):620-7. doi: 10.1016/s0002-9394(02)02220-1. PMID: 12719068

Prognosis

Grentzelos MA, Voulgari N, Giacuzzo C, Droutsas K, Kymionis GD
Eur J Ophthalmol 2022 Jan;32(1):NP12-NP14. Epub 2020 Jul 24 doi: 10.1177/1120672120945662. PMID: 32703026
Hafezi F, Kling S, Gilardoni F, Hafezi N, Hillen M, Abrishamchi R, Gomes JAP, Mazzotta C, Randleman JB, Torres-Netto EA
Am J Ophthalmol 2021 Apr;224:133-142. Epub 2021 Jan 30 doi: 10.1016/j.ajo.2020.12.011. PMID: 33340508
Mukhtar S, Ambati BK
Int Ophthalmol 2018 Oct;38(5):2257-2266. Epub 2017 Aug 29 doi: 10.1007/s10792-017-0699-8. PMID: 28852910Free PMC Article
Marsack JD, Rozema JJ, Koppen C, Tassignon MJ, Applegate RA
Optom Vis Sci 2013 Apr;90(4):324-34. doi: 10.1097/OPX.0b013e318288c2b1. PMID: 23458981Free PMC Article
Tananuvat N, Leeungurasatien P, Wiriyaluppa C
Int Ophthalmol 2009 Oct;29(5):419-21. Epub 2008 Jul 10 doi: 10.1007/s10792-008-9244-0. PMID: 18615241

Clinical prediction guides

Erdinest N, Wajnsztajn D, London N, Solomon A
Curr Opin Allergy Clin Immunol 2023 Oct 1;23(5):430-437. Epub 2023 Jul 24 doi: 10.1097/ACI.0000000000000935. PMID: 37490610
Seth I, Bulloch G, Vine M, Outmezguine J, Seth N, Every J, Daniell M
Clin Exp Ophthalmol 2022 Apr;50(3):280-293. Epub 2022 Feb 2 doi: 10.1111/ceo.14045. PMID: 35050519
Santodomingo-Rubido J, Carracedo G, Suzaki A, Villa-Collar C, Vincent SJ, Wolffsohn JS
Cont Lens Anterior Eye 2022 Jun;45(3):101559. Epub 2022 Jan 4 doi: 10.1016/j.clae.2021.101559. PMID: 34991971
Hafezi F, Kling S, Gilardoni F, Hafezi N, Hillen M, Abrishamchi R, Gomes JAP, Mazzotta C, Randleman JB, Torres-Netto EA
Am J Ophthalmol 2021 Apr;224:133-142. Epub 2021 Jan 30 doi: 10.1016/j.ajo.2020.12.011. PMID: 33340508
Jacob S, Patel SR, Agarwal A, Ramalingam A, Saijimol AI, Raj JM
J Refract Surg 2018 May 1;34(5):296-303. doi: 10.3928/1081597X-20180223-01. PMID: 29738584

Recent systematic reviews

Seth I, Bulloch G, Vine M, Outmezguine J, Seth N, Every J, Daniell M
Clin Exp Ophthalmol 2023 May-Jun;51(4):O1-O16. Epub 2023 Mar 7 doi: 10.1111/ceo.14215. PMID: 36882200
Seth I, Bulloch G, Vine M, Outmezguine J, Seth N, Every J, Daniell M
Clin Exp Ophthalmol 2022 Apr;50(3):280-293. Epub 2022 Feb 2 doi: 10.1111/ceo.14045. PMID: 35050519
Akowuah PK, Kobia-Acquah E, Donkor R, Adjei-Anang J, Ankamah-Lomotey S
Ophthalmic Physiol Opt 2021 Jul;41(4):736-747. Epub 2021 Apr 16 doi: 10.1111/opo.12825. PMID: 33860963
Rong SS, Ma STU, Yu XT, Ma L, Chu WK, Chan TCY, Wang YM, Young AL, Pang CP, Jhanji V, Chen LJ
Sci Rep 2017 Jul 4;7(1):4620. doi: 10.1038/s41598-017-04393-2. PMID: 28676647Free PMC Article
McAnena L, Doyle F, O'Keefe M
Acta Ophthalmol 2017 May;95(3):229-239. Epub 2016 Sep 28 doi: 10.1111/aos.13224. PMID: 27678078

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