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Corneal stromal edema

MedGen UID:
96883
Concept ID:
C0474444
Finding
Synonym: Stromal edema
SNOMED CT: Corneal stromal edema (373430008); Edema of corneal stroma (373430008)
 
HPO: HP:0012040

Definition

Abnormal accumulation of fluid and swelling of the stroma of cornea. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCorneal stromal edema

Conditions with this feature

Corneal dystrophy, Fuchs endothelial 1
MedGen UID:
338172
Concept ID:
C1850959
Disease or Syndrome
Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by Baratz et al., 2010). Genetic Heterogeneity of Fuchs Endothelial Corneal Dystrophy More common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene (610206) on chromosome 20p13 (FECD4; 613268), in the ZEB1 gene (189909) on chromosome 10p11.2 (FECD6; 613270), and in the AGBL1 gene (615496) on chromosome 15q25 (FECD8; 615523). Other loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2; 610158), 18q21.2-q21.32 (FECD3; 613267), 5q33.1-q35.2 (FECD5; 613269), and 9p (FECD7; 613271).
Corneal dystrophy, Fuchs endothelial, 6
MedGen UID:
442478
Concept ID:
C2750448
Disease or Syndrome
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 Fuchs endothelial corneal dystrophy, see FECD1 (136800).

Recent clinical studies

Etiology

Sumitha CV, Pai V, Thulasidas M
Indian J Ophthalmol 2020 Apr;68(4):597-602. doi: 10.4103/ijo.IJO_1043_19. PMID: 32174577Free PMC Article
Chee SP, Jap A, Ling EC, Ti SE
Cornea 2013 Aug;32(8):1094-8. doi: 10.1097/ICO.0b013e318283c887. PMID: 23538617
Bayar SA, Altinors DD, Kucukerdonmez C, Akova YA
Ocul Immunol Inflamm 2010 Aug;18(4):268-74. doi: 10.3109/09273948.2010.490630. PMID: 20662658
Koizumi N, Suzuki T, Uno T, Chihara H, Shiraishi A, Hara Y, Inatomi T, Sotozono C, Kawasaki S, Yamasaki K, Mochida C, Ohashi Y, Kinoshita S
Ophthalmology 2008 Feb;115(2):292-297.e3. Epub 2007 Jul 31 doi: 10.1016/j.ophtha.2007.04.053. PMID: 17669498
Haefliger IO, Vysniauskiene I, Pimentel AR, Soares EJ, Piffaretti JM
Klin Monbl Augenheilkd 2004 May;221(5):395-7. doi: 10.1055/s-2004-812852. PMID: 15162289

Diagnosis

Hirayama M, Fukui M, Yamaguchi T, Shimazaki J
J Cataract Refract Surg 2020 May;46(5):784-788. doi: 10.1097/j.jcrs.0000000000000143. PMID: 32358276
Cheung T, Durrani M, Warner M
Am J Emerg Med 2020 Apr;38(4):852.e3-852.e4. Epub 2019 Nov 30 doi: 10.1016/j.ajem.2019.11.028. PMID: 31836344
Matsuura K, Hatta S, Terasaka Y, Inoue Y
BMC Ophthalmol 2017 Jan 18;17(1):5. doi: 10.1186/s12886-017-0400-z. PMID: 28100180Free PMC Article
Chee SP, Jap A, Ling EC, Ti SE
Cornea 2013 Aug;32(8):1094-8. doi: 10.1097/ICO.0b013e318283c887. PMID: 23538617
Morishige N, Yamada N, Teranishi S, Chikama T, Nishida T, Takahara A
Invest Ophthalmol Vis Sci 2009 Jul;50(7):3145-50. Epub 2009 Feb 21 doi: 10.1167/iovs.08-3309. PMID: 19234355

Therapy

Hirayama M, Fukui M, Yamaguchi T, Shimazaki J
J Cataract Refract Surg 2020 May;46(5):784-788. doi: 10.1097/j.jcrs.0000000000000143. PMID: 32358276
Jia Y, Gao H, Li S, Shi W
Cornea 2014 Jun;33(6):559-64. doi: 10.1097/ICO.0000000000000130. PMID: 24763125
Chee SP, Jap A, Ling EC, Ti SE
Cornea 2013 Aug;32(8):1094-8. doi: 10.1097/ICO.0b013e318283c887. PMID: 23538617
Yokogawa H, Kobayashi A, Yamazaki N, Sugiyama K
Jpn J Ophthalmol 2013 Mar;57(2):185-90. Epub 2012 Dec 18 doi: 10.1007/s10384-012-0223-7. PMID: 23247975
Bayar SA, Altinors DD, Kucukerdonmez C, Akova YA
Ocul Immunol Inflamm 2010 Aug;18(4):268-74. doi: 10.3109/09273948.2010.490630. PMID: 20662658

Prognosis

Chen YC, Yen DH, Chen YW, Huang MS, Huang CI, Chen MH
J Formos Med Assoc 2014 Oct;113(10):750-3. Epub 2012 May 3 doi: 10.1016/j.jfma.2011.08.030. PMID: 25240304
Yokogawa H, Kobayashi A, Yamazaki N, Sugiyama K
Jpn J Ophthalmol 2013 Mar;57(2):185-90. Epub 2012 Dec 18 doi: 10.1007/s10384-012-0223-7. PMID: 23247975
Haefliger IO, Vysniauskiene I, Pimentel AR, Soares EJ, Piffaretti JM
Klin Monbl Augenheilkd 2004 May;221(5):395-7. doi: 10.1055/s-2004-812852. PMID: 15162289
Mori Y, Inoue Y, Shimomura Y
Jpn J Ophthalmol 1994;38(4):407-10. PMID: 7723210

Clinical prediction guides

Hirayama M, Fukui M, Yamaguchi T, Shimazaki J
J Cataract Refract Surg 2020 May;46(5):784-788. doi: 10.1097/j.jcrs.0000000000000143. PMID: 32358276
Matsuura K, Hatta S, Terasaka Y, Inoue Y
BMC Ophthalmol 2017 Jan 18;17(1):5. doi: 10.1186/s12886-017-0400-z. PMID: 28100180Free PMC Article
Romano V, Steger B, Kaye SB
Cornea 2015 Apr;34(4):479-81. doi: 10.1097/ICO.0000000000000373. PMID: 25651496
Jia Y, Gao H, Li S, Shi W
Cornea 2014 Jun;33(6):559-64. doi: 10.1097/ICO.0000000000000130. PMID: 24763125
Morishige N, Yamada N, Teranishi S, Chikama T, Nishida T, Takahara A
Invest Ophthalmol Vis Sci 2009 Jul;50(7):3145-50. Epub 2009 Feb 21 doi: 10.1167/iovs.08-3309. PMID: 19234355

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