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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
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

Phacoemulsification, pinhole pupilloplasty, and pre-Descemet's endothelial keratoplasty for keratoconus with Fuchs' endothelial dystrophy.
Kumar DA, Jacob S, Naveen P, Sivagnanam S, Agarwal A
Indian J Ophthalmol 2023 Sep;71(9):3242-3245. doi: 10.4103/IJO.IJO_3023_22. PMID: 37602615Free PMC Article
Mini-DMEK for the Treatment of Chronic Focal Corneal Endothelial Decompensation.
Händel A, Siebelmann S, Matthaei M, Cursiefen C, Bachmann B
Cornea 2023 Jan 1;42(1):12-19. Epub 2022 Jul 4 doi: 10.1097/ICO.0000000000003048. PMID: 36459580
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

Phacoemulsification, pinhole pupilloplasty, and pre-Descemet's endothelial keratoplasty for keratoconus with Fuchs' endothelial dystrophy.
Kumar DA, Jacob S, Naveen P, Sivagnanam S, Agarwal A
Indian J Ophthalmol 2023 Sep;71(9):3242-3245. doi: 10.4103/IJO.IJO_3023_22. PMID: 37602615Free PMC Article
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
Congenital glaucoma.
Cibis GW
J Am Optom Assoc 1987 Sep;58(9):728-33. PMID: 3128592

Therapy

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
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
Epikeratophakia for keratoconus.
Halliday BL
Eye (Lond) 1990;4 ( Pt 4):531-4. doi: 10.1038/eye.1990.72. PMID: 2226979
Epikeratophakia for keratoconus. The nationwide study.
McDonald MB, Kaufman HE, Durrie DS, Keates RH, Sanders DR
Arch Ophthalmol 1986 Sep;104(9):1294-300. doi: 10.1001/archopht.1986.01050210048024. PMID: 3530222
EYE-RUBBING AND CONTACT LENSES.
Ridley F
Br J Ophthalmol 1961 Sep;45(9):631. doi: 10.1136/bjo.45.9.631. PMID: 18170717Free PMC Article

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: 39185834Free PMC Article
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
Epikeratophakia for keratoconus. The nationwide study.
McDonald MB, Kaufman HE, Durrie DS, Keates RH, Sanders DR
Arch Ophthalmol 1986 Sep;104(9):1294-300. doi: 10.1001/archopht.1986.01050210048024. PMID: 3530222

Clinical prediction guides

Corneal Allogenic Intrastromal Ring Segments (CAIRS) for Corneal Ectasia: A Comprehensive Segmental Tomography Evaluation.
Bteich Y, Assaf JF, Mrad AA, Jacob S, Hafezi F, Awwad ST
J Refract Surg 2023 Nov;39(11):767-776. Epub 2023 Nov 1 doi: 10.3928/1081597X-20231011-01. PMID: 37937759
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
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
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

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
Accelerated Corneal Collagen Cross-Linking Protocols for Progressive Keratoconus: Systematic Review and Meta-analysis.
Karam M, Alsaif A, Aldubaikhi A, Aljebreen M, Alazaz R, Alkhowaiter N, Almudhaiyan T, Aljassar F
Cornea 2023 Feb 1;42(2):252-260. Epub 2022 Sep 16 doi: 10.1097/ICO.0000000000003124. PMID: 36156043
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
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
Genetic associations for keratoconus: a systematic review and meta-analysis.
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

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