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Keratoconus 9(KTCN9)

MedGen UID:
1645093
•Concept ID:
C4693660
•
Disease or Syndrome
Synonyms: KERATOCONUS 9; KTCN9
 
Gene (location): TUBA3D (2q21.1)
 
Monarch Initiative: MONDO:0054771
OMIM®: 617928

Definition

Keratoconus-9 (KTCN9), a degenerative corneal disease with onset during adolescence, is characterized by corneal ectasia, thinning, and cone-shaped protrusion that results in reduced vision (Hao et al., 2017). For a discussion of genetic heterogeneity of keratoconus, see 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.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Decreased corneal thickness
MedGen UID:
473349
•Concept ID:
C1096274
•
Finding
A decreased anteroposterior thickness of the cornea.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Diagnosis and management of keratoconus by eye care practitioners in Kenya.
Rashid ZA, Moodley VR, Mashige KP
BMC Ophthalmol 2023 Jan 27;23(1):37. doi: 10.1186/s12886-023-02792-w. PMID: 36707782Free PMC Article
Optometric practices and attitudes in keratoconus patient management in Latin America.
Braga Vieira S, Rivadeneira-Bueno D, Ortiz-Toquero S, Martin R
Clin Exp Optom 2023 May;106(4):386-394. Epub 2022 Mar 17 doi: 10.1080/08164622.2022.2048997. PMID: 35298892
Scleral lens prescription and management practices: Emerging consensus.
Schornack MM, Fogt J, Nau A, Nau CB, Harthan JS, Cao D, Shorter E
Cont Lens Anterior Eye 2023 Feb;46(1):101501. Epub 2021 Aug 27 doi: 10.1016/j.clae.2021.101501. PMID: 34456112Free PMC Article

Recent clinical studies

Etiology

Lamellar Keratoplasty for Advanced Keratoconus.
Patil M, Mehta JS
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):580-588. doi: 10.1097/APO.0000000000000338. PMID: 33208629
Corneal Stroma Regeneration: New Approach for the Treatment of Cornea Disease.
El Zarif M, Alió Del Barrio JL, Arnalich-Montiel F, De Miguel MP, Makdissy N, Alió JL
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):571-579. doi: 10.1097/APO.0000000000000337. PMID: 33181549
Bowman Layer Transplantation-A Review.
Parker JS, Dockery PW, Melles GRJ
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):565-570. doi: 10.1097/APO.0000000000000336. PMID: 33156015
Conventional versus accelerated collagen cross-linking for keratoconus.
Konstantopoulos A, Mehta JS
Eye Contact Lens 2015 Mar;41(2):65-71. doi: 10.1097/ICL.0000000000000093. PMID: 25503903
Epikeratophakia for keratoconus.
Halliday BL
Eye (Lond) 1990;4 ( Pt 4):531-4. doi: 10.1038/eye.1990.72. PMID: 2226979

Diagnosis

Use of corneal cross-linking beyond keratoconus: a systemic literature review.
Manns RPC, Achiron A, Knyazer B, Elhaddad O, Darcy K, Yahalomi T, Tole D, Avadhanam VS
Graefes Arch Clin Exp Ophthalmol 2023 Sep;261(9):2435-2453. Epub 2023 Mar 7 doi: 10.1007/s00417-023-05994-6. PMID: 36881260
Lamellar Keratoplasty for Advanced Keratoconus.
Patil M, Mehta JS
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):580-588. doi: 10.1097/APO.0000000000000338. PMID: 33208629
Corneal Stroma Regeneration: New Approach for the Treatment of Cornea Disease.
El Zarif M, Alió Del Barrio JL, Arnalich-Montiel F, De Miguel MP, Makdissy N, Alió JL
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):571-579. doi: 10.1097/APO.0000000000000337. PMID: 33181549
Bowman Layer Transplantation-A Review.
Parker JS, Dockery PW, Melles GRJ
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):565-570. doi: 10.1097/APO.0000000000000336. PMID: 33156015
Congenital glaucoma.
Cibis GW
J Am Optom Assoc 1987 Sep;58(9):728-33. PMID: 3128592

Therapy

Early findings in a prospective randomised study on three cross-linking treatment protocols: interruption of the iontophoresis treatment protocol.
Gustafsson I, Ivarsen A, Hjortdal J
BMJ Open Ophthalmol 2023 Sep;8(1) doi: 10.1136/bmjophth-2023-001406. PMID: 37739426Free PMC Article
Use of corneal cross-linking beyond keratoconus: a systemic literature review.
Manns RPC, Achiron A, Knyazer B, Elhaddad O, Darcy K, Yahalomi T, Tole D, Avadhanam VS
Graefes Arch Clin Exp Ophthalmol 2023 Sep;261(9):2435-2453. Epub 2023 Mar 7 doi: 10.1007/s00417-023-05994-6. PMID: 36881260
Sterile infiltrates after cross-linking.
García de Oteyza G, Álvarez de Toledo J
Arch Soc Esp Oftalmol 2017 Sep;92(9):451-454. Epub 2017 May 25 doi: 10.1016/j.oftal.2017.01.006. PMID: 28552439
Conventional versus accelerated collagen cross-linking for keratoconus.
Konstantopoulos A, Mehta JS
Eye Contact Lens 2015 Mar;41(2):65-71. doi: 10.1097/ICL.0000000000000093. PMID: 25503903
Epikeratophakia for keratoconus.
Halliday BL
Eye (Lond) 1990;4 ( Pt 4):531-4. doi: 10.1038/eye.1990.72. PMID: 2226979

Prognosis

Implantation of asymmetrical corneal intrastromal rings: A case series.
Saito MS, Silva APC, Ribeiro JMC, Bonfante D, Rodrigues PF, Moscovici BK, Barboza GNC, Barboza MNC
Indian J Ophthalmol 2024 Sep 1;72(9):1363-1368. Epub 2024 Aug 23 doi: 10.4103/IJO.IJO_3182_23. PMID: 39185834
Use of corneal cross-linking beyond keratoconus: a systemic literature review.
Manns RPC, Achiron A, Knyazer B, Elhaddad O, Darcy K, Yahalomi T, Tole D, Avadhanam VS
Graefes Arch Clin Exp Ophthalmol 2023 Sep;261(9):2435-2453. Epub 2023 Mar 7 doi: 10.1007/s00417-023-05994-6. PMID: 36881260
Stromal peeling for deep anterior lamellar keratoplasty in post-penetrating keratoplasty eyes.
Bovone C, Nahum Y, Scorcia V, Giannaccare G, Spena R, Myerscough J, Yu AC, Busin M
Br J Ophthalmol 2022 Mar;106(3):336-340. Epub 2020 Nov 26 doi: 10.1136/bjophthalmol-2020-316653. PMID: 33243827
Corneal Viscous Properties Cannot Be Determined From Air-Puff Applanation.
Francis M, Matalia H, Nuijts RMMA, Haex B, Shetty R, Sinha Roy A
J Refract Surg 2019 Nov 1;35(11):730-736. doi: 10.3928/1081597X-20191010-03. PMID: 31710375
Epikeratophakia for keratoconus.
Halliday BL
Eye (Lond) 1990;4 ( Pt 4):531-4. doi: 10.1038/eye.1990.72. PMID: 2226979

Clinical prediction guides

Implantation of asymmetrical corneal intrastromal rings: A case series.
Saito MS, Silva APC, Ribeiro JMC, Bonfante D, Rodrigues PF, Moscovici BK, Barboza GNC, Barboza MNC
Indian J Ophthalmol 2024 Sep 1;72(9):1363-1368. Epub 2024 Aug 23 doi: 10.4103/IJO.IJO_3182_23. PMID: 39185834
Corneal neovascularisation following deep anterior lamellar keratoplasty for corneal ectasia: incidence, timing and risk factors.
Pellegrini M, Scorcia V, Giannaccare G, Lucisano A, Vaccaro S, Battaglia C, Yu AC, Bovone C, Busin M, Spena R
Br J Ophthalmol 2022 Oct;106(10):1363-1367. Epub 2021 May 13 doi: 10.1136/bjophthalmol-2021-319339. PMID: 33985961
Clinical Results of Repeated Corneal Collagen Cross-linking in Progressive Keratoconus.
Akkaya Turhan S, Aydın FO, Toker E
Cornea 2020 Jan;39(1):84-87. doi: 10.1097/ICO.0000000000002128. PMID: 31490276
Astigmatism evaluation prior to cataract surgery.
Gupta PC, Caty JT
Curr Opin Ophthalmol 2018 Jan;29(1):9-13. doi: 10.1097/ICU.0000000000000446. PMID: 29084004
Personality and keratoconus.
Swartz NG, Cohen EJ, Scott DG, Genvert GI, Arentsen JJ, Laibson PR
CLAO J 1990 Jan-Mar;16(1):62-4. PMID: 2306856

Recent systematic reviews

Artificial intelligence for detecting keratoconus.
Vandevenne MM, Favuzza E, Veta M, Lucenteforte E, Berendschot TT, Mencucci R, Nuijts RM, Virgili G, Dickman MM
Cochrane Database Syst Rev 2023 Nov 15;11(11):CD014911. doi: 10.1002/14651858.CD014911.pub2. PMID: 37965960Free PMC Article
The association between keratoconus and allergic eye diseases: A systematic review and meta-analysis.
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
Use of corneal cross-linking beyond keratoconus: a systemic literature review.
Manns RPC, Achiron A, Knyazer B, Elhaddad O, Darcy K, Yahalomi T, Tole D, Avadhanam VS
Graefes Arch Clin Exp Ophthalmol 2023 Sep;261(9):2435-2453. Epub 2023 Mar 7 doi: 10.1007/s00417-023-05994-6. PMID: 36881260
The Diagnostic Value of Neutrophil to Lymphocyte Ratio as an Effective Biomarker for Eye Disorders: A Meta-Analysis.
Shirvani M, Soufi F, Nouralishahi A, Vakili K, Salimi A, Lucke-Wold B, Mousavi F, Mohammadzadehsaliani S, Khanzadeh S
Biomed Res Int 2022;2022:5744008. Epub 2022 Oct 15 doi: 10.1155/2022/5744008. PMID: 36281463Free PMC Article
Keratoconus in Africa: A systematic review and meta-analysis.
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

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