U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Management of Keratoconus in Down Syndrome and Other Intellectual Disability.
Stephenson KAJ, Power B, Malata D, Quill B, Murphy CC, Power WJ
Cornea 2022 Apr 1;41(4):456-461. doi: 10.1097/ICO.0000000000002793. PMID: 35244626
Treatment strategies for the management of acute hydrops.
Lanthier A, Choulakian M
J Fr Ophtalmol 2021 Nov;44(9):1439-1444. Epub 2021 Aug 24 doi: 10.1016/j.jfo.2021.02.017. PMID: 34452766

Recent clinical studies

Etiology

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
Diagnostic patterns in keratoconus.
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
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
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
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

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
The Enigma of Environmental Factors in Keratoconus.
Crawford AZ, Zhang J, Gokul A, McGhee CNJ, Ormonde SE
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):549-556. doi: 10.1097/APO.0000000000000334. PMID: 33284230
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
Measurement of Quality of Life in Keratoconus.
Kandel H, Pesudovs K, Watson SL
Cornea 2020 Mar;39(3):386-393. doi: 10.1097/ICO.0000000000002170. PMID: 31599780
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

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
Femtosecond laser-assisted stromal keratophakia for keratoconus: A systemic review and meta-analysis.
Riau AK, Htoon HM, Alió Del Barrio JL, Nubile M, El Zarif M, Mastropasqua L, Alió JL, Mehta JS
Int Ophthalmol 2021 May;41(5):1965-1979. Epub 2021 Feb 20 doi: 10.1007/s10792-021-01745-w. PMID: 33609200
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
The Enigma of Environmental Factors in Keratoconus.
Crawford AZ, Zhang J, Gokul A, McGhee CNJ, Ormonde SE
Asia Pac J Ophthalmol (Phila) 2020 Dec;9(6):549-556. doi: 10.1097/APO.0000000000000334. PMID: 33284230
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

Prognosis

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
Choroidal thickness in keratoconus.
Bilgin B, Karadag AS
Int Ophthalmol 2020 Jan;40(1):135-140. Epub 2019 Aug 20 doi: 10.1007/s10792-019-01156-y. PMID: 31432355
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
New perspectives on the detection and progression of keratoconus.
Martínez-Abad A, Piñero DP
J Cataract Refract Surg 2017 Sep;43(9):1213-1227. doi: 10.1016/j.jcrs.2017.07.021. PMID: 28991620

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
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
Measurement of Quality of Life in Keratoconus.
Kandel H, Pesudovs K, Watson SL
Cornea 2020 Mar;39(3):386-393. doi: 10.1097/ICO.0000000000002170. PMID: 31599780
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
New perspectives on the detection and progression of keratoconus.
Martínez-Abad A, Piñero DP
J Cataract Refract Surg 2017 Sep;43(9):1213-1227. doi: 10.1016/j.jcrs.2017.07.021. PMID: 28991620

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
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
Femtosecond laser-assisted stromal keratophakia for keratoconus: A systemic review and meta-analysis.
Riau AK, Htoon HM, Alió Del Barrio JL, Nubile M, El Zarif M, Mastropasqua L, Alió JL, Mehta JS
Int Ophthalmol 2021 May;41(5):1965-1979. Epub 2021 Feb 20 doi: 10.1007/s10792-021-01745-w. PMID: 33609200
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...