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Cornea verticillata

MedGen UID:
739559
•Concept ID:
C1706559
•
Disease or Syndrome
Synonyms: Corneal verticillata; Vortex keratopathy
SNOMED CT: Cornea verticillata (420805002); Corneal verticillata (420805002)
 
HPO: HP:0500008

Definition

Golden brown or gray deposits with a clockwise, whorl-like distribution in the inferior interpalpebal portion of the cornea. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCornea verticillata

Professional guidelines

PubMed

Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Rho Kinase Inhibitors as a Novel Treatment for Glaucoma and Ocular Hypertension.
Tanna AP, Johnson M
Ophthalmology 2018 Nov;125(11):1741-1756. Epub 2018 Jul 12 doi: 10.1016/j.ophtha.2018.04.040. PMID: 30007591Free PMC Article
Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa.
Ramaswami U
Acta Paediatr 2008 Apr;97(457):38-40. doi: 10.1111/j.1651-2227.2008.00658.x. PMID: 18339186

Recent clinical studies

Etiology

The Role of Rho Kinase Inhibitors in Corneal Diseases.
Futterknecht S, Chatzimichail E, Gugleta K, Panos GD, Gatzioufas Z
Drug Des Devel Ther 2024;18:97-108. Epub 2024 Jan 19 doi: 10.2147/DDDT.S435522. PMID: 38264539Free PMC Article
MERCURY-3: a randomized comparison of netarsudil/latanoprost and bimatoprost/timolol in open-angle glaucoma and ocular hypertension.
Stalmans I, Lim KS, Oddone F, Fichtl M, Belda JI, Hommer A, Laganovska G, Schweitzer C, Voykov B, Zarnowski T, Holló G
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):179-190. Epub 2023 Aug 24 doi: 10.1007/s00417-023-06192-0. PMID: 37615697Free PMC Article
Eyes and the heart: what a clinician should know.
Ng JY, Zarook E, Nicholson L; Oculi-Cordis group, Khanji MY, Chahal CAA
Heart 2023 Oct 26;109(22):1670-1676. doi: 10.1136/heartjnl-2022-322081. PMID: 37507215Free PMC Article
Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review.
van der Tol L, Sminia ML, Hollak CE, Biegstraaten M
Br J Ophthalmol 2016 Jan;100(1):3-8. Epub 2015 Feb 12 doi: 10.1136/bjophthalmol-2014-306433. PMID: 25677671
Pediatric Fabry disease.
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R
Pediatrics 2005 Mar;115(3):e344-55. Epub 2005 Feb 15 doi: 10.1542/peds.2004-1678. PMID: 15713906

Diagnosis

MERCURY-3: a randomized comparison of netarsudil/latanoprost and bimatoprost/timolol in open-angle glaucoma and ocular hypertension.
Stalmans I, Lim KS, Oddone F, Fichtl M, Belda JI, Hommer A, Laganovska G, Schweitzer C, Voykov B, Zarnowski T, Holló G
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):179-190. Epub 2023 Aug 24 doi: 10.1007/s00417-023-06192-0. PMID: 37615697Free PMC Article
Eyes and the heart: what a clinician should know.
Ng JY, Zarook E, Nicholson L; Oculi-Cordis group, Khanji MY, Chahal CAA
Heart 2023 Oct 26;109(22):1670-1676. doi: 10.1136/heartjnl-2022-322081. PMID: 37507215Free PMC Article
When and How to Diagnose Fabry Disease in Clinical Pratice.
Michaud M, Mauhin W, Belmatoug N, Garnotel R, Bedreddine N, Catros F, Ancellin S, Lidove O, Gaches F
Am J Med Sci 2020 Dec;360(6):641-649. Epub 2020 Jul 10 doi: 10.1016/j.amjms.2020.07.011. PMID: 32723516
Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
A Review of Fabry Disease.
Chan B, Adam DN
Skin Therapy Lett 2018 Mar;23(2):4-6. PMID: 29562089

Therapy

MERCURY-3: a randomized comparison of netarsudil/latanoprost and bimatoprost/timolol in open-angle glaucoma and ocular hypertension.
Stalmans I, Lim KS, Oddone F, Fichtl M, Belda JI, Hommer A, Laganovska G, Schweitzer C, Voykov B, Zarnowski T, Holló G
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):179-190. Epub 2023 Aug 24 doi: 10.1007/s00417-023-06192-0. PMID: 37615697Free PMC Article
A Review of Fabry Disease.
Chan B, Adam DN
Skin Therapy Lett 2018 Mar;23(2):4-6. PMID: 29562089
Anderson-Fabry disease in children.
Sestito S, Ceravolo F, Concolino D
Curr Pharm Des 2013;19(33):6037-45. doi: 10.2174/13816128113199990345. PMID: 23448455
Amiodarone-induced cornea verticillata.
Goldblum D, Garweg JG
Postgrad Med J 1998 Nov;74(877):642. doi: 10.1136/pgmj.74.877.642. PMID: 10197192Free PMC Article
Cornea verticillata.
François J
Doc Ophthalmol 1969;27:235-51. doi: 10.1007/BF00208693. PMID: 5308563

Prognosis

Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers.
Lindziute M, Kaufeld J, Hufendiek K, Volkmann I, Brockmann D, Hosari S, Hohberger B, Christian M, Framme C, Jan T, Hufendiek K
Orphanet J Rare Dis 2023 Oct 8;18(1):314. doi: 10.1186/s13023-023-02932-x. PMID: 37807078Free PMC Article
Eyes and the heart: what a clinician should know.
Ng JY, Zarook E, Nicholson L; Oculi-Cordis group, Khanji MY, Chahal CAA
Heart 2023 Oct 26;109(22):1670-1676. doi: 10.1136/heartjnl-2022-322081. PMID: 37507215Free PMC Article
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W, Benveniste O, Amelin D, Montagner C, Lamari F, Caillaud C, Douillard C, Dussol B, Leguy-Seguin V, D'Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Lacombe D, Maillard H, Lidove O
PLoS One 2020;15(5):e0233460. Epub 2020 May 22 doi: 10.1371/journal.pone.0233460. PMID: 32442237Free PMC Article
Fabry disease: genetics, pathology, and treatment.
Bernardes TP, Foresto RD, Kirsztajn GM
Rev Assoc Med Bras (1992) 2020 Jan 13;66Suppl 1(Suppl 1):s10-s16. doi: 10.1590/1806-9282.66.S1.10. PMID: 31939530
Whorl pattern keratopathies in veterinary and human patients.
Kim S, Thomasy SM, Ramsey D, Zhao M, Mannis MJ, Murphy CJ
Vet Ophthalmol 2018 Nov;21(6):661-667. Epub 2018 Feb 6 doi: 10.1111/vop.12552. PMID: 29411482

Clinical prediction guides

MERCURY-3: a randomized comparison of netarsudil/latanoprost and bimatoprost/timolol in open-angle glaucoma and ocular hypertension.
Stalmans I, Lim KS, Oddone F, Fichtl M, Belda JI, Hommer A, Laganovska G, Schweitzer C, Voykov B, Zarnowski T, Holló G
Graefes Arch Clin Exp Ophthalmol 2024 Jan;262(1):179-190. Epub 2023 Aug 24 doi: 10.1007/s00417-023-06192-0. PMID: 37615697Free PMC Article
Correlation of retinal vascular characteristics with laboratory and ocular findings in Fabry disease: exploring ocular diagnostic biomarkers.
Lindziute M, Kaufeld J, Hufendiek K, Volkmann I, Brockmann D, Hosari S, Hohberger B, Christian M, Framme C, Jan T, Hufendiek K
Orphanet J Rare Dis 2023 Oct 8;18(1):314. doi: 10.1186/s13023-023-02932-x. PMID: 37807078Free PMC Article
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W, Benveniste O, Amelin D, Montagner C, Lamari F, Caillaud C, Douillard C, Dussol B, Leguy-Seguin V, D'Halluin P, Noel E, Zenone T, Matignon M, Maillot F, Ly KH, Besson G, Willems M, Labombarda F, Masseau A, Lavigne C, Lacombe D, Maillard H, Lidove O
PLoS One 2020;15(5):e0233460. Epub 2020 May 22 doi: 10.1371/journal.pone.0233460. PMID: 32442237Free PMC Article
Cornea verticillata in Fabry disease.
Moiseev SV, Ismailova DS, Moiseev AS, Bulanov NM, Karovaikina EA, Nosova NR, Fomin VV
Ter Arkh 2018 Dec 30;90(12):17-22. doi: 10.26442/00403660.2018.12.000003. PMID: 30701828
Pediatric Fabry disease.
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R
Pediatrics 2005 Mar;115(3):e344-55. Epub 2005 Feb 15 doi: 10.1542/peds.2004-1678. PMID: 15713906

Recent systematic reviews

Intraocular pressure-lowering efficacy and ocular safety of Rho-kinase inhibitor in glaucoma: a meta-analysis and systematic review of prospective randomized trials.
Wu JH, Chang SN, Nishida T, Kuo BI, Lin JW
Graefes Arch Clin Exp Ophthalmol 2022 Mar;260(3):937-948. Epub 2021 Sep 7 doi: 10.1007/s00417-021-05379-7. PMID: 34491427
Ocular Adverse Effects of Amiodarone: A Systematic Review of Case Reports.
Alshehri M, Joury A
Optom Vis Sci 2020 Jul;97(7):536-542. doi: 10.1097/OPX.0000000000001534. PMID: 32697562
Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review.
van der Tol L, Sminia ML, Hollak CE, Biegstraaten M
Br J Ophthalmol 2016 Jan;100(1):3-8. Epub 2015 Feb 12 doi: 10.1136/bjophthalmol-2014-306433. PMID: 25677671
Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.
Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE
Int J Cardiol 2014 Dec 15;177(2):400-8. Epub 2014 Sep 20 doi: 10.1016/j.ijcard.2014.09.001. PMID: 25442977

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