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Corneal dystrophy, Fuchs endothelial, 8(FECD8)

MedGen UID:
816128
Concept ID:
C3809798
Disease or Syndrome
Synonym: FECD8
 
Gene (location): AGBL1 (15q25.3)
 
Monarch Initiative: MONDO:0014228
OMIM®: 615523

Definition

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of FECD, see FECD1 (136800). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy

Clinical features

From HPO
Corneal dystrophy
MedGen UID:
3619
Concept ID:
C0010036
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
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.

Professional guidelines

PubMed

Bloch F, Dinot V, Goetz C, Zevering Y, Lhuillier L, Perone JM
BMC Ophthalmol 2022 Aug 24;22(1):350. doi: 10.1186/s12886-022-02574-w. PMID: 35999622Free PMC Article
Schear MJ, Ibrahim K, Winokur J, Busuioc C, Udell I, Steiner A
Eye Contact Lens 2019 Sep;45(5):315-317. doi: 10.1097/ICL.0000000000000610. PMID: 31033605
Voykov B, Deuter C, Zierhut M, Leitritz MA, Guenova E, Doycheva D
Graefes Arch Clin Exp Ophthalmol 2014 Mar;252(3):485-9. Epub 2014 Jan 5 doi: 10.1007/s00417-013-2558-2. PMID: 24390401

Recent clinical studies

Etiology

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
Saad A, Ghazal W, Keaik M, Indumathy TR, Fogla R
J AAPOS 2020 Dec;24(6):358.e1-358.e6. Epub 2020 Nov 27 doi: 10.1016/j.jaapos.2020.07.018. PMID: 33253860
Loreck N, Adler W, Siebelmann S, Rokohl AC, Heindl LM, Cursiefen C, Bachmann BO, Matthaei M
Am J Ophthalmol 2020 May;213:69-75. Epub 2020 Jan 16 doi: 10.1016/j.ajo.2020.01.011. PMID: 31954712
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, Wang X, Shortt AJ
Cochrane Database Syst Rev 2014 Feb 14;2014(2):CD008420. doi: 10.1002/14651858.CD008420.pub3. PMID: 24526345Free PMC Article

Diagnosis

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
Eltony AM, Clouser F, Shao P, Pineda R 2nd, Yun SH
Cornea 2020 Feb;39(2):168-171. doi: 10.1097/ICO.0000000000002191. PMID: 31658170Free PMC Article
Afshari NA, Igo RP Jr, Morris NJ, Stambolian D, Sharma S, Pulagam VL, Dunn S, Stamler JF, Truitt BJ, Rimmler J, Kuot A, Croasdale CR, Qin X, Burdon KP, Riazuddin SA, Mills R, Klebe S, Minear MA, Zhao J, Balajonda E, Rosenwasser GO, Baratz KH, Mootha VV, Patel SV, Gregory SG, Bailey-Wilson JE, Price MO, Price FW Jr, Craig JE, Fingert JH, Gottsch JD, Aldave AJ, Klintworth GK, Lass JH, Li YJ, Iyengar SK
Nat Commun 2017 Mar 30;8:14898. doi: 10.1038/ncomms14898. PMID: 28358029Free PMC Article
Nanavaty MA, Wang X, Shortt AJ
Cochrane Database Syst Rev 2014 Feb 14;2014(2):CD008420. doi: 10.1002/14651858.CD008420.pub3. PMID: 24526345Free PMC Article

Therapy

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
Hirabayashi KE, Mark D, Lau J, Lin CC
Cornea 2020 Mar;39(3):379-381. doi: 10.1097/ICO.0000000000002195. PMID: 31725698Free PMC Article
Nielsen E, Ivarsen A, Kristensen S, Hjortdal J
Acta Ophthalmol 2016 Dec;94(8):780-787. Epub 2016 Jun 7 doi: 10.1111/aos.13126. PMID: 27273977
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, Wang X, Shortt AJ
Cochrane Database Syst Rev 2014 Feb 14;2014(2):CD008420. doi: 10.1002/14651858.CD008420.pub3. PMID: 24526345Free PMC Article

Prognosis

Hakim FE, Nagra AK, Dhaliwal DK
Cornea 2024 Aug 1;43(8):994-998. Epub 2023 Oct 31 doi: 10.1097/ICO.0000000000003421. PMID: 37921677Free PMC Article
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
Rotenberg M, Downward L, Curnow E, Larkin DF, Tuft SJ; National Health Service Blood and Ocular Tissue Advisory Group and Contributing Ophthalmologists (OTAG Study 27)
Cornea 2020 Jan;39(1):18-22. doi: 10.1097/ICO.0000000000002039. PMID: 31335531
Elhalis H, Azizi B, Jurkunas UV
Ocul Surf 2010 Oct;8(4):173-84. doi: 10.1016/s1542-0124(12)70232-x. PMID: 20964980Free PMC Article

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
Wu J, Dong X, Ouyang C, Ji J, Xie L, Hou C, Huang T
Am J Ophthalmol 2021 Jun;226:76-82. Epub 2021 Feb 5 doi: 10.1016/j.ajo.2021.01.029. PMID: 33556383
Xu TT, Li YJ, Afshari NA, Aleff RA, Rinkoski TA, Patel SV, Maguire LJ, Edwards AO, Brown WL, Fautsch MP, Wieben ED, Baratz KH
Invest Ophthalmol Vis Sci 2021 Jan 4;62(1):17. doi: 10.1167/iovs.62.1.17. PMID: 33444430Free PMC Article
Afshari NA, Igo RP Jr, Morris NJ, Stambolian D, Sharma S, Pulagam VL, Dunn S, Stamler JF, Truitt BJ, Rimmler J, Kuot A, Croasdale CR, Qin X, Burdon KP, Riazuddin SA, Mills R, Klebe S, Minear MA, Zhao J, Balajonda E, Rosenwasser GO, Baratz KH, Mootha VV, Patel SV, Gregory SG, Bailey-Wilson JE, Price MO, Price FW Jr, Craig JE, Fingert JH, Gottsch JD, Aldave AJ, Klintworth GK, Lass JH, Li YJ, Iyengar SK
Nat Commun 2017 Mar 30;8:14898. doi: 10.1038/ncomms14898. PMID: 28358029Free PMC Article

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
Matthaei M, Sandhaeger H, Hermel M, Adler W, Jun AS, Cursiefen C, Heindl LM
Transplantation 2017 Jun;101(6):1387-1399. doi: 10.1097/TP.0000000000001281. PMID: 27336399
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, Wang X, Shortt AJ
Cochrane Database Syst Rev 2014 Feb 14;2014(2):CD008420. doi: 10.1002/14651858.CD008420.pub3. PMID: 24526345Free PMC Article

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