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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-cerebellar syndrome
MedGen UID:
341379
Concept ID:
C1849087
Disease or Syndrome
Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.
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).
Acroosteolysis-keloid-like lesions-premature aging syndrome
MedGen UID:
400936
Concept ID:
C1866182
Disease or Syndrome
Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).
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). Patients with keratoconus have been observed (Lechner et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).
Corneal dystrophy, Fuchs endothelial, 3
MedGen UID:
442479
Concept ID:
C2750451
Disease or Syndrome
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).
Anterior segment dysgenesis 8
MedGen UID:
934589
Concept ID:
C4310622
Congenital Abnormality
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).
Glaucoma 3, primary congenital, E
MedGen UID:
934606
Concept ID:
C4310639
Disease or Syndrome
Primary congenital glaucoma (PCG) is characterized by elevated intraocular pressure (IOP), enlargement of the globe (buphthalmos), edema, and opacification of the cornea with rupture of Descemet's membrane (Haab's striae), thinning of the anterior sclera and iris atrophy, anomalously deep anterior chamber, and structurally normal posterior segment except for progressive glaucomatous optic atrophy. Symptoms include photophobia, blepharospasm, and excessive tearing. Typically, the diagnosis is made in the first year of life. Depending on when treatment is instituted, visual acuity may be reduced and/or visual fields may be restricted. In untreated individuals, blindness invariably occurs.

Professional guidelines

PubMed

Lanthier A, Choulakian M
J Fr Ophtalmol 2021 Nov;44(9):1439-1444. Epub 2021 Aug 24 doi: 10.1016/j.jfo.2021.02.017. PMID: 34452766
Sharif Z, Sharif W
Rom J Ophthalmol 2019 Jan-Mar;63(1):15-22. PMID: 31198893Free PMC Article
Costagliola C, Romano V, Forbice E, Angi M, Pascotto A, Boccia T, Semeraro F
Clin Exp Optom 2013 Nov;96(6):529-35. Epub 2013 May 16 doi: 10.1111/cxo.12060. PMID: 23679934

Recent clinical studies

Etiology

LoBue SA, Moustafa GA, Vu A, Amin M, Nguyen T, Goyal H
Cornea 2021 Aug 1;40(8):1048-1054. doi: 10.1097/ICO.0000000000002621. PMID: 33369939
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

Diagnosis

Soler Sanchis MI, Remolí Sargues L, Calvo Andrés R, Mata Moret L, Monferrer Adsuara C, Cervera Taulet E
Eur J Ophthalmol 2023 May;33(3):NP36-NP39. Epub 2021 May 20 doi: 10.1177/11206721211014718. PMID: 34011182
Ryu KJ, Kim DH
Cornea 2022 May 1;41(5):649-650. doi: 10.1097/ICO.0000000000002999. PMID: 35383620
Mendoza-Moreira AL, Rodrigo-Rey S, Figuerola-García MB, González-Alonso Á, Marcos-Parra MT, Pérez-Santonja JJ
Cornea 2022 Sep 1;41(9):1174-1176. Epub 2022 Feb 4 doi: 10.1097/ICO.0000000000002981. PMID: 35120352
Shah AP, Dzhaber D, Kenyon KR, Riaz KM, Ouano DP, Koo EH
Cornea 2022 Jan 1;41(1):121-124. doi: 10.1097/ICO.0000000000002878. PMID: 34620770
Chee SP, Jap A, Ling EC, Ti SE
Cornea 2013 Aug;32(8):1094-8. doi: 10.1097/ICO.0b013e318283c887. PMID: 23538617

Therapy

Ryu KJ, Kim DH
Cornea 2022 May 1;41(5):649-650. doi: 10.1097/ICO.0000000000002999. PMID: 35383620
Mendoza-Moreira AL, Rodrigo-Rey S, Figuerola-García MB, González-Alonso Á, Marcos-Parra MT, Pérez-Santonja JJ
Cornea 2022 Sep 1;41(9):1174-1176. Epub 2022 Feb 4 doi: 10.1097/ICO.0000000000002981. PMID: 35120352
Shah AP, Dzhaber D, Kenyon KR, Riaz KM, Ouano DP, Koo EH
Cornea 2022 Jan 1;41(1):121-124. doi: 10.1097/ICO.0000000000002878. PMID: 34620770
LoBue SA, Moustafa GA, Vu A, Amin M, Nguyen T, Goyal H
Cornea 2021 Aug 1;40(8):1048-1054. doi: 10.1097/ICO.0000000000002621. PMID: 33369939
Chee SP, Jap A, Ling EC, Ti SE
Cornea 2013 Aug;32(8):1094-8. doi: 10.1097/ICO.0b013e318283c887. PMID: 23538617

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

Soler Sanchis MI, Remolí Sargues L, Calvo Andrés R, Mata Moret L, Monferrer Adsuara C, Cervera Taulet E
Eur J Ophthalmol 2023 May;33(3):NP36-NP39. Epub 2021 May 20 doi: 10.1177/11206721211014718. PMID: 34011182
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
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
Gurelik G, Safak N, Koksal M, Bilgihan K, Hasanreisoglu B
Int Ophthalmol 1999;23(3):131-5. doi: 10.1023/a:1010652521578. PMID: 11456249

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