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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

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
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

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
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
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
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
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
Epikeratophakia for keratoconus.
Halliday BL
Eye (Lond) 1990;4 ( Pt 4):531-4. doi: 10.1038/eye.1990.72. PMID: 2226979

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
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
Epikeratophakia for keratoconus.
Halliday BL
Eye (Lond) 1990;4 ( Pt 4):531-4. doi: 10.1038/eye.1990.72. PMID: 2226979

Clinical prediction guides

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
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
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
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
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
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

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