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Corneal dystrophy, Fuchs endothelial, 3(FECD3)

MedGen UID:
442479
Concept ID:
C2750451
Disease or Syndrome
Synonyms: FCD2 LOCUS; FECD3
 
Gene (location): TCF4 (18q21.2)
 
Monarch Initiative: MONDO:0013203
OMIM®: 613267

Definition

Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800). [from OMIM]

Additional description

From MedlinePlus Genetics
Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread throughout the cornea. These guttae contribute to the ongoing cell death within the cornea, leading to worsening vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain.

The signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties.

Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.  https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy

Clinical features

From HPO
Corneal opacity
MedGen UID:
40485
Concept ID:
C0010038
Finding
A reduction of corneal clarity.
Corneal guttata
MedGen UID:
488833
Concept ID:
C0271288
Finding
Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.
Corneal stromal edema
MedGen UID:
96883
Concept ID:
C0474444
Finding
Abnormal accumulation of fluid and swelling of the stroma of cornea.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Professional guidelines

PubMed

Syed ZA, Rapuano CJ
Curr Opin Ophthalmol 2021 May 1;32(3):268-274. doi: 10.1097/ICU.0000000000000748. PMID: 33606407
Arnalich-Montiel F, Mingo-Botín D, De Arriba-Palomero P
Am J Ophthalmol 2019 Dec;208:76-86. Epub 2019 Jul 29 doi: 10.1016/j.ajo.2019.07.012. PMID: 31369719
Borkar DS, Veldman P, Colby KA
Cornea 2016 Oct;35(10):1267-73. doi: 10.1097/ICO.0000000000000915. PMID: 27310885

Recent clinical studies

Etiology

Sela TC, Iflah M, Muhsen K, Zahavi A
BMJ Open Ophthalmol 2023 Nov;8(1) doi: 10.1136/bmjophth-2023-001397. PMID: 37914389Free PMC Article
Lu Y, Zuo P, Chen H, Shan H, Wang W, Dai Z, Xu H, Chen Y, Liang L, Ding D, Jin Y, Yin Y
Nat Commun 2023 Oct 3;14(1):6157. doi: 10.1038/s41467-023-41924-0. PMID: 37788993Free PMC Article
Nealon CL, Halladay CW, Gorman BR, Simpson P, Roncone DP, Canania RL, Anthony SA, Sawicki Rogers LR, Leber JN, Dougherty JM, Cooke Bailey JN, Crawford DC, Sullivan JM, Galor A, Wu WC, Greenberg PB, Lass JH, Iyengar SK, Peachey NS; Million Veteran Program
Cornea 2023 Sep 1;42(9):1140-1149. Epub 2023 May 11 doi: 10.1097/ICO.0000000000003311. PMID: 37170406Free PMC Article
Gorovoy MS
Cornea 2021 Mar 1;40(3):270-273. doi: 10.1097/ICO.0000000000002688. PMID: 33543873
Li D, Peng X, Sun H
BMC Ophthalmol 2015 Jun 19;15:61. doi: 10.1186/s12886-015-0055-6. PMID: 26087656Free PMC Article

Diagnosis

Nealon CL, Halladay CW, Gorman BR, Simpson P, Roncone DP, Canania RL, Anthony SA, Sawicki Rogers LR, Leber JN, Dougherty JM, Cooke Bailey JN, Crawford DC, Sullivan JM, Galor A, Wu WC, Greenberg PB, Lass JH, Iyengar SK, Peachey NS; Million Veteran Program
Cornea 2023 Sep 1;42(9):1140-1149. Epub 2023 May 11 doi: 10.1097/ICO.0000000000003311. PMID: 37170406Free PMC Article
Patel SV, Hodge DO, Treichel EJ, Baratz KH
Am J Ophthalmol 2022 Jul;239:98-107. Epub 2022 Feb 4 doi: 10.1016/j.ajo.2022.01.016. PMID: 35123953
Singhal D, Sahay P, Goel S, Asif MI, Maharana PK, Sharma N
Surv Ophthalmol 2020 May-Jun;65(3):279-293. Epub 2020 Jan 8 doi: 10.1016/j.survophthal.2019.12.006. PMID: 31923476
Soh YQ, Kocaba V, Pinto M, Mehta JS
Eye (Lond) 2020 Mar;34(3):427-441. Epub 2019 Jul 2 doi: 10.1038/s41433-019-0497-9. PMID: 31267087Free PMC Article
Kinoshita S, Koizumi N, Ueno M, Okumura N, Imai K, Tanaka H, Yamamoto Y, Nakamura T, Inatomi T, Bush J, Toda M, Hagiya M, Yokota I, Teramukai S, Sotozono C, Hamuro J
N Engl J Med 2018 Mar 15;378(11):995-1003. doi: 10.1056/NEJMoa1712770. PMID: 29539291

Therapy

Sela TC, Iflah M, Muhsen K, Zahavi A
BMJ Open Ophthalmol 2023 Nov;8(1) doi: 10.1136/bmjophth-2023-001397. PMID: 37914389Free PMC Article
Singhal D, Sahay P, Goel S, Asif MI, Maharana PK, Sharma N
Surv Ophthalmol 2020 May-Jun;65(3):279-293. Epub 2020 Jan 8 doi: 10.1016/j.survophthal.2019.12.006. PMID: 31923476
Kinoshita S, Koizumi N, Ueno M, Okumura N, Imai K, Tanaka H, Yamamoto Y, Nakamura T, Inatomi T, Bush J, Toda M, Hagiya M, Yokota I, Teramukai S, Sotozono C, Hamuro J
N Engl J Med 2018 Mar 15;378(11):995-1003. doi: 10.1056/NEJMoa1712770. PMID: 29539291
Li D, Peng X, Sun H
BMC Ophthalmol 2015 Jun 19;15:61. doi: 10.1186/s12886-015-0055-6. PMID: 26087656Free PMC Article
Gorovoy MS
Cornea 2014 Jan;33(1):101-4. doi: 10.1097/ICO.0000000000000023. PMID: 24270679

Prognosis

Baydoun L, Vasiliauskaitė I, Luceri S, Jager MJ, Schaal SC, Bourgonje V, Oellerich S, Melles GRJ
Cornea 2024 Jun 1;43(6):726-733. Epub 2023 Sep 12 doi: 10.1097/ICO.0000000000003379. PMID: 37702586
Heckenlaible NJ, Dun C, Prescott C, Eghrari AO, Woreta F, Makary MA, Srikumaran D
Ophthalmology 2023 Jan;130(1):28-38. Epub 2022 Aug 3 doi: 10.1016/j.ophtha.2022.07.030. PMID: 35932840
Barrera-Sanchez M, Hernandez-Camarena JC, Ruiz-Lozano RE, Valdez-Garcia JE, Rodriguez-Garcia A
Int Ophthalmol 2022 Apr;42(4):1299-1309. Epub 2021 Nov 7 doi: 10.1007/s10792-021-02117-0. PMID: 34743257
Patel SV, Hodge DO, Treichel EJ, Spiegel MR, Baratz KH
Ophthalmology 2020 Mar;127(3):315-323. Epub 2019 Sep 27 doi: 10.1016/j.ophtha.2019.09.033. PMID: 31685256
Nanavaty MA, Shortt AJ
Cochrane Database Syst Rev 2011 Jul 6;(7):CD008420. doi: 10.1002/14651858.CD008420.pub2. PMID: 21735430

Clinical prediction guides

Heckenlaible NJ, Dun C, Prescott C, Eghrari AO, Woreta F, Makary MA, Srikumaran D
Ophthalmology 2023 Jan;130(1):28-38. Epub 2022 Aug 3 doi: 10.1016/j.ophtha.2022.07.030. PMID: 35932840
Barrera-Sanchez M, Hernandez-Camarena JC, Ruiz-Lozano RE, Valdez-Garcia JE, Rodriguez-Garcia A
Int Ophthalmol 2022 Apr;42(4):1299-1309. Epub 2021 Nov 7 doi: 10.1007/s10792-021-02117-0. PMID: 34743257
Hribek A, Mestanoglu M, Clahsen T, Reinking N, Frentzen F, Howaldt A, Siebelmann S, Bachmann BO, Cursiefen C, Matthaei M
Am J Ophthalmol 2022 Mar;235:63-70. Epub 2021 Sep 10 doi: 10.1016/j.ajo.2021.08.019. PMID: 34509435
Soh YQ, Peh GSL, Naso SL, Kocaba V, Mehta JS
Am J Ophthalmol 2021 Jan;221:260-272. Epub 2020 Jul 28 doi: 10.1016/j.ajo.2020.07.029. PMID: 32730910
Nanavaty MA, Shortt AJ
Cochrane Database Syst Rev 2011 Jul 6;(7):CD008420. doi: 10.1002/14651858.CD008420.pub2. PMID: 21735430

Recent systematic reviews

Franceschino A, Dutheil F, Pereira B, Watson SL, Chiambaretta F, Navel V
Cornea 2022 Jul 1;41(7):815-825. Epub 2021 Dec 7 doi: 10.1097/ICO.0000000000002855. PMID: 34879044
Mohebbi M, Mehrpour M, Sanij AD, Mohammadi N, Mirghorbani M
Graefes Arch Clin Exp Ophthalmol 2022 Apr;260(4):1069-1082. Epub 2021 Oct 28 doi: 10.1007/s00417-021-05459-8. PMID: 34709453
Nita M, Grzybowski A
Curr Pharm Des 2017;23(4):629-638. doi: 10.2174/1381612822666161129152041. PMID: 27897118
Li D, Peng X, Sun H
BMC Ophthalmol 2015 Jun 19;15:61. doi: 10.1186/s12886-015-0055-6. PMID: 26087656Free PMC Article
Nanavaty MA, Shortt AJ
Cochrane Database Syst Rev 2011 Jul 6;(7):CD008420. doi: 10.1002/14651858.CD008420.pub2. PMID: 21735430

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