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Corneal dystrophy, Fuchs endothelial, 3(FECD3)

MedGen UID:
442479
Concept ID:
C2750451
Disease or Syndrome
Synonyms: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET; FCD2 LOCUS; FECD3
 
Gene (location): TCF4 (18q21.2)
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 GHR
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. These guttae contribute to the loss of cells in the cornea, leading to 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.  http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy

Recent clinical studies

Etiology

Wacker K, Baratz KH, Maguire LJ, McLaren JW, Patel SV
Ophthalmology 2016 Jan;123(1):154-60. Epub 2015 Oct 17 doi: 10.1016/j.ophtha.2015.09.023. [Epub ahead of print] PMID: 26481820
Wacker K, McLaren JW, Patel SV
Invest Ophthalmol Vis Sci 2015 Sep;56(10):5904-11. doi: 10.1167/iovs.15-17311. PMID: 26348640
Amin SR, Baratz KH, McLaren JW, Patel SV
Ophthalmology 2014 Dec;121(12):2325-33. Epub 2014 Aug 22 doi: 10.1016/j.ophtha.2014.07.001. [Epub ahead of print] PMID: 25156138Free PMC Article
Fujimoto H, Maeda N, Soma T, Oie Y, Koh S, Tsujikawa M, Nishida K
Invest Ophthalmol Vis Sci 2014 Jul 24;55(8):5090-8. doi: 10.1167/iovs.14-14249. PMID: 25061116
Bucher F, Adler W, Lehmann HC, Hos D, Steven P, Cursiefen C, Heindl LM
Graefes Arch Clin Exp Ophthalmol 2014 Jul;252(7):1119-26. Epub 2014 May 30 doi: 10.1007/s00417-014-2678-3. [Epub ahead of print] PMID: 24874747

Diagnosis

Wacker K, Baratz KH, Maguire LJ, McLaren JW, Patel SV
Ophthalmology 2016 Jan;123(1):154-60. Epub 2015 Oct 17 doi: 10.1016/j.ophtha.2015.09.023. [Epub ahead of print] PMID: 26481820
Eghrari AO, Garrett BS, Mumtaz AA, Edalati AE, Meadows DN, McGlumphy EJ, Iliff BW, Gottsch JD
Cornea 2015 Dec;34(12):1623-6. doi: 10.1097/ICO.0000000000000656. PMID: 26488628Free PMC Article
Bucher F, Adler W, Lehmann HC, Hos D, Steven P, Cursiefen C, Heindl LM
Graefes Arch Clin Exp Ophthalmol 2014 Jul;252(7):1119-26. Epub 2014 May 30 doi: 10.1007/s00417-014-2678-3. [Epub ahead of print] PMID: 24874747
Kim YW, Kim MK, Wee WR
Korean J Ophthalmol 2013 Dec;27(6):409-15. Epub 2013 Nov 15 doi: 10.3341/kjo.2013.27.6.409. PMID: 24311925Free PMC Article
Ahuja Y, Baratz KH, McLaren JW, Bourne WM, Patel SV
Cornea 2012 Nov;31(11):1257-63. doi: 10.1097/ICO.0b013e31823f7888. PMID: 22357383Free PMC Article

Therapy

Resch MD, Zemova E, Marsovszky L, Szentmáry N, Bauer F, Daas L, Pattmöller M, El-Husseiny M, Németh J, Nagy ZZ, Seitz B
J Refract Surg 2015 Sep;31(9):620-6. doi: 10.3928/1081597X-20150820-08. PMID: 26352568
Lass JH, Szczotka-Flynn LB, Ayala AR, Benetz BA, Gal RL, Aldave AJ, Corrigan MM, Dunn SP, McCall TL, Pramanik S, Rosenwasser GO, Ross KW, Terry MA, Verdier DD; Writing Committee for the Cornea Preservation Time Study Group
Cornea 2015 Jun;34(6):601-8. doi: 10.1097/ICO.0000000000000417. PMID: 25850706Free PMC Article
Writing Committee for the Cornea Donor Study Research Group, Sugar A, Gal RL, Kollman C, Raghinaru D, Dontchev M, Croasdale CR, Feder RS, Holland EJ, Lass JH, Macy JI, Mannis MJ, Smith PW, Soukiasian SH, Beck RW
JAMA Ophthalmol 2015 Mar;133(3):246-54. doi: 10.1001/jamaophthalmol.2014.3923. PMID: 25322173Free PMC Article
Ponce de Los Ríos CD, Gris O, Elies D, Güell JL
Cornea 2014 Sep;33(9):985-7. doi: 10.1097/ICO.0000000000000195. PMID: 25062333
Ahuja Y, Baratz KH, McLaren JW, Bourne WM, Patel SV
Cornea 2012 Nov;31(11):1257-63. doi: 10.1097/ICO.0b013e31823f7888. PMID: 22357383Free PMC Article

Prognosis

Wacker K, Baratz KH, Maguire LJ, McLaren JW, Patel SV
Ophthalmology 2016 Jan;123(1):154-60. Epub 2015 Oct 17 doi: 10.1016/j.ophtha.2015.09.023. [Epub ahead of print] PMID: 26481820
Arbelaez JG, Price MO, Price FW Jr
Cornea 2014 Dec;33(12):1295-9. doi: 10.1097/ICO.0000000000000270. PMID: 25299425
Chung DW, Frausto RF, Ann LB, Jang MS, Aldave AJ
Invest Ophthalmol Vis Sci 2014 Sep 4;55(10):6159-66. doi: 10.1167/iovs.14-15247. PMID: 25190660Free PMC Article
Amin SR, Baratz KH, McLaren JW, Patel SV
Ophthalmology 2014 Dec;121(12):2325-33. Epub 2014 Aug 22 doi: 10.1016/j.ophtha.2014.07.001. [Epub ahead of print] PMID: 25156138Free PMC Article
Fujimoto H, Maeda N, Soma T, Oie Y, Koh S, Tsujikawa M, Nishida K
Invest Ophthalmol Vis Sci 2014 Jul 24;55(8):5090-8. doi: 10.1167/iovs.14-14249. PMID: 25061116

Clinical prediction guides

Eghrari AO, Garrett BS, Mumtaz AA, Edalati AE, Meadows DN, McGlumphy EJ, Iliff BW, Gottsch JD
Cornea 2015 Dec;34(12):1623-6. doi: 10.1097/ICO.0000000000000656. PMID: 26488628Free PMC Article
Chung DW, Frausto RF, Ann LB, Jang MS, Aldave AJ
Invest Ophthalmol Vis Sci 2014 Sep 4;55(10):6159-66. doi: 10.1167/iovs.14-15247. PMID: 25190660Free PMC Article
Ponce de Los Ríos CD, Gris O, Elies D, Güell JL
Cornea 2014 Sep;33(9):985-7. doi: 10.1097/ICO.0000000000000195. PMID: 25062333
Repp DJ, Hodge DO, Baratz KH, McLaren JW, Patel SV
Ophthalmology 2013 Apr;120(4):687-94. Epub 2013 Jan 28 doi: 10.1016/j.ophtha.2012.09.022. [Epub ahead of print] PMID: 23369486Free PMC Article
Haydari MN, Perron MC, Laprise S, Roy O, Cameron JD, Proulx S, Brunette I
Invest Ophthalmol Vis Sci 2012 Sep 19;53(10):6343-54. doi: 10.1167/iovs.12-9708. PMID: 22915029

Recent systematic reviews

Veldman PB, Dye PK, Holiman JD, Mayko ZM, Sáles CS, Straiko MD, Galloway JD, Terry MA
Ophthalmology 2016 Jan;123(1):161-4. Epub 2015 Oct 4 doi: 10.1016/j.ophtha.2015.08.044. [Epub ahead of print] PMID: 26439215
Lau LC, Ma L, Young AL, Rong SS, Jhanji V, Brelen ME, Pang CP, Chen LJ
PLoS One 2014;9(10):e109142. Epub 2014 Oct 9 doi: 10.1371/journal.pone.0109142. PMID: 25299301Free PMC Article
Aldave AJ, Han J, Frausto RF
Clin Genet 2013 Aug;84(2):109-19. Epub 2013 Jun 10 doi: 10.1111/cge.12191. [Epub ahead of print] PMID: 23662738Free PMC Article
Li JY, Terry MA, Goshe J, Shamie N, Davis-Boozer D
Ophthalmology 2012 Jan;119(1):90-4. Epub 2011 Nov 23 doi: 10.1016/j.ophtha.2011.07.007. [Epub ahead of print] PMID: 22115709
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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