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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

Improving keratoconus management with central cor neal regularization and corneal collagen cross-linking protocol treatment.
Napolitano R, Tonti E, Cifariello F, Sabater-Cruz N, Spadea L
Clin Ter 2022 May 25;173(3):274-279. doi: 10.7417/CT.2022.2431. PMID: 35612343
Assessment of the quality of information on treatment of keratoconus on YouTube.
Çetinkaya Yaprak A, Erkan Pota Ç
Int Ophthalmol 2022 May;42(5):1499-1505. Epub 2021 Nov 29 doi: 10.1007/s10792-021-02139-8. PMID: 34845598
Risk factors for keratoconus progression after treatment by accelerated cross-linking (A-CXL): A prospective 24-month study.
Sot M, Gan G, François J, Chaussard D, Da Costa M, Luc MS, Goetz C, Dinot V, Lhuillier L, Perone JM
J Fr Ophtalmol 2021 Jun;44(6):863-872. Epub 2021 May 28 doi: 10.1016/j.jfo.2020.08.040. PMID: 34059330

Recent clinical studies

Etiology

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
Corneal cross-linking for treatment of keratoconus relapse in post-keratoplasty eyes.
Kapelushnik N, Avni-Zauberman N, Herber R, Berger Y, Ezra Nimni O, Abd-Elkader A, Raiskup F, Barequet IS
Int Ophthalmol 2023 Nov;43(11):4027-4034. Epub 2023 Jul 12 doi: 10.1007/s10792-023-02807-x. PMID: 37436552
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
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
Keratoglobus.
Wallang BS, Das S
Eye (Lond) 2013 Sep;27(9):1004-12. Epub 2013 Jun 28 doi: 10.1038/eye.2013.130. PMID: 23807384Free PMC Article

Diagnosis

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
Natural history and predictors for progression in pediatric keratoconus.
Antunes-Foschini R, Doná H, de Mello PHS, Pereira RB, Marqueis IM, Rocha EM, de Faria-E-Sousa SJ, Perdona GC
Sci Rep 2023 Mar 27;13(1):4940. doi: 10.1038/s41598-023-32176-5. PMID: 36973341Free 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
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
Keratoglobus.
Wallang BS, Das S
Eye (Lond) 2013 Sep;27(9):1004-12. Epub 2013 Jun 28 doi: 10.1038/eye.2013.130. PMID: 23807384Free PMC Article

Therapy

Corneal cross-linking for treatment of keratoconus relapse in post-keratoplasty eyes.
Kapelushnik N, Avni-Zauberman N, Herber R, Berger Y, Ezra Nimni O, Abd-Elkader A, Raiskup F, Barequet IS
Int Ophthalmol 2023 Nov;43(11):4027-4034. Epub 2023 Jul 12 doi: 10.1007/s10792-023-02807-x. PMID: 37436552
Keratoconus in pre-teen children: Demographics and clinical profile.
Tharini B, Sahebjada S, Borrone MA, Vaddavalli P, Ali H, Reddy JC
Indian J Ophthalmol 2022 Oct;70(10):3508-3513. doi: 10.4103/ijo.IJO_2579_21. PMID: 36190036Free PMC Article
KeratoScreen: Early Keratoconus Classification With Zernike Polynomial Using Deep Learning.
Gao HB, Pan ZG, Shen MX, Lu F, Li H, Zhang XQ
Cornea 2022 Sep 1;41(9):1158-1165. Epub 2022 Apr 20 doi: 10.1097/ICO.0000000000003038. PMID: 35543584
Corneal Cross-Linking for Keratoconus: Current Knowledge and Practice and Future Trends.
Chan C
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):557-564. doi: 10.1097/APO.0000000000000335. PMID: 33323709
Distinguishing Highly Asymmetric Keratoconus Eyes Using Dual Scheimpflug/Placido Analysis.
Golan O, Piccinini AL, Hwang ES, De Oca Gonzalez IM, Krauthammer M, Khandelwal SS, Smadja D, Randleman JB
Am J Ophthalmol 2019 May;201:46-53. Epub 2019 Feb 2 doi: 10.1016/j.ajo.2019.01.023. PMID: 30721688Free PMC Article

Prognosis

Corneal cross-linking for treatment of keratoconus relapse in post-keratoplasty eyes.
Kapelushnik N, Avni-Zauberman N, Herber R, Berger Y, Ezra Nimni O, Abd-Elkader A, Raiskup F, Barequet IS
Int Ophthalmol 2023 Nov;43(11):4027-4034. Epub 2023 Jul 12 doi: 10.1007/s10792-023-02807-x. PMID: 37436552
Natural history and predictors for progression in pediatric keratoconus.
Antunes-Foschini R, Doná H, de Mello PHS, Pereira RB, Marqueis IM, Rocha EM, de Faria-E-Sousa SJ, Perdona GC
Sci Rep 2023 Mar 27;13(1):4940. doi: 10.1038/s41598-023-32176-5. PMID: 36973341Free PMC Article
Incidence and Progression of Myopia in Early Adulthood.
Lee SS, Lingham G, Sanfilippo PG, Hammond CJ, Saw SM, Guggenheim JA, Yazar S, Mackey DA
JAMA Ophthalmol 2022 Feb 1;140(2):162-169. doi: 10.1001/jamaophthalmol.2021.5067. PMID: 34989764Free PMC Article
Biochemical Markers and Alterations in Keratoconus.
Shetty R, D'Souza S, Khamar P, Ghosh A, Nuijts RMMA, Sethu S
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):533-540. doi: 10.1097/APO.0000000000000332. PMID: 33323707
Retinoscopy as a Screening Tool for Keratoconus.
Al-Mahrouqi H, Oraba SB, Al-Habsi S, Mundemkattil N, Babu J, Panchatcharam SM, Al-Saidi R, Al-Raisi A
Cornea 2019 Apr;38(4):442-445. doi: 10.1097/ICO.0000000000001843. PMID: 30640248

Clinical prediction guides

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
Biochemical Markers and Alterations in Keratoconus.
Shetty R, D'Souza S, Khamar P, Ghosh A, Nuijts RMMA, Sethu S
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):533-540. doi: 10.1097/APO.0000000000000332. PMID: 33323707
Matrix metalloproteinases in keratoconus - Too much of a good thing?
di Martino E, Ali M, Inglehearn CF
Exp Eye Res 2019 May;182:137-143. Epub 2019 Mar 23 doi: 10.1016/j.exer.2019.03.016. PMID: 30910610
Retinoscopy as a Screening Tool for Keratoconus.
Al-Mahrouqi H, Oraba SB, Al-Habsi S, Mundemkattil N, Babu J, Panchatcharam SM, Al-Saidi R, Al-Raisi A
Cornea 2019 Apr;38(4):442-445. doi: 10.1097/ICO.0000000000001843. PMID: 30640248
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

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
Role of corneal collagen cross-linking in bullous keratopathy: A systematic review.
Singh M, Sinha BP, Mishra D, Deokar K, Bhatia G, Upreti G
Indian J Ophthalmol 2023 May;71(5):1706-1717. doi: 10.4103/ijo.IJO_1942_22. PMID: 37203022Free PMC Article
Mental Health Impact of Keratoconus: A Systematic Review.
Durakovic E, Kandel H, Watson SL
Cornea 2023 Sep 1;42(9):1187-1197. Epub 2023 May 12 doi: 10.1097/ICO.0000000000003263. PMID: 37195289
Obstructive Sleep Apnea and Keratoconus: A Systematic Review and Meta-analysis.
Pellegrini M, Bernabei F, Friehmann A, Giannaccare G
Optom Vis Sci 2020 Jan;97(1):9-14. doi: 10.1097/OPX.0000000000001467. PMID: 31895272
Keratoconus Characteristics Used in Randomized Trials of Surgical Interventions-A Systematic Review.
Baenninger PB, Bodmer NS, Bachmann LM, Iselin K, Kaufmann C, Belin MW, Thiel MA
Cornea 2020 May;39(5):615-620. doi: 10.1097/ICO.0000000000002202. PMID: 31738244

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