Congenital hereditary endothelial dystrophy
Congenital hereditary corneal dystrophy (CHED) is a form of corneal endothelial dystrophy that presents at birth.
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CHED was previously subclassified into two subtypes, CHED1 and CHED2.
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CHED was previously subclassified into two subtypes: CHED1 and CHED2.
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In 2015, the IC3D reclassified CHED1 as posterior polymorphous corneal dystrophy and CHED2 as CHED.
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in 2015, the International Classification of Corneal Dystrophies (IC3D) renamed the condition "CHED1" to become posterior polymorphous corneal dystrophy , and renamed the condition "CHED2" to become, simply, CHED.
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CHED exhibits autosomal recessive inheritance, with 80% of cases linked to mutations in the SLC4A11 gene.
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CHED exhibits autosomal recessive inheritance, with 80% of cases linked to mutations in SLC4A11 gene.
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The SLC4A11 gene encodes a sodium borate transporter.
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The SLC4A11 gene encodes solute carrier family 4, sodium borate transporter, member 11.
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Histologically, the Descemet's membrane becomes diffusely thickened and laminated, and endothelial cells become atrophic and degenerated.
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Histologically, the Descemet's membrane in CHED becomes diffusely thickened and laminated.
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CHED presents congenitally and has a stationary course.
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CHED presents congenitally, but has a stationary course.
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The cornea exhibits a variable degree of clouding, from a diffuse haze to a ground glass appearance with occasional focal gray spots.
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The cornea exhibits a variable degree of clouding: from a diffuse haze, to a "ground glass" appearance, with occasional focal gray spots.
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The cornea thickens to between two and three times its normal thickness.
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The cornea thickens to between two and three times is normal thickness.
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Rarely, sub-epithelial band keratopathy and elevated intraocular pressure occur.
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Rarely, sub-epithelial band keratopathy and elevated intraocular pressure occur.
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Patients have blurred vision and nystagmus.
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Patients have blurred vision and nystagmus
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It is rare for the condition to be associated with epiphora or photophobia.
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it is rare for the condition to be associated with either epiphora or photophobia with this.
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Management of CHED primarily involves corneal transplantation.
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Management of CHED primarily involves corneal transplantation .
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The age at which corneal transplantation is required is variable, but it is usually necessary fairly early in life.
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The age that corneal transplantation is required is variable, however, it is usually necessary fairly early in life.
Stationary course
| Congenital hereditary endothelial dystrophy | |
|---|---|
| Other names | Maumenee corneal dystrophy[1] |
| A markedly opaque cornea due to corneal edema secondary to defective endothelial cells (Courtesy of Dr. Ahmed A. Hidajat) | |
| Specialty | Ophthalmology |
Congenital hereditary corneal dystrophy (CHED) is a form of corneal endothelial dystrophy that presents at birth.
CHED was previously subclassified into two subtypes: CHED1 and CHED2. However in 2015, the International Classification of Corneal Dystrophies (IC3D) renamed the condition "CHED1" to become posterior polymorphous corneal dystrophy, and renamed the condition "CHED2" to become, simply, CHED.[2] Consequently, the scope of this article is restricted to the condition currently referred to as CHED
CHED presents congenitally, but has a stationary course. The cornea exhibits a variable degree of clouding: from a diffuse haze, to a "ground glass" appearance, with occasional focal gray spots. The cornea thickens to between two and three times is normal thickness. Rarely, sub-epithelial band keratopathy and elevated intraocular pressure occur. Patients have blurred vision and nystagmus, however it is rare for the condition to be associated with either epiphora or photophobia with this.[1]
CHED exhibits autosomal recessive inheritance, with 80% of cases linked to mutations in SLC4A11 gene. The SLC4A11 gene encodes solute carrier family 4, sodium borate transporter, member 11.[1]
Histologically, the Descemet's membrane in CHED becomes diffusely thickened and laminated. Multiple layers of basement membrane-like material appear to form on the posterior part of Descemet's membrane. The endothelial cells are sparse - they become atrophic and degenerated, with many vacuoles. The corneal stroma becomes severely disorganised; the lamellar arrangement of the fibrils becomes disrupted.[citation needed]
Management of CHED primarily involves corneal transplantation. The age that corneal transplantation is required is variable, however, it is usually necessary fairly early in life.[1]
- Posterior polymorphous corneal dystrophy (for the condition previously referred to as CHED1)
- Corneal dystrophy
- 1 2 3 4 Bowes Hamill, M. (2015). 2015-2016 Basic and Clinical Science Course (BCSC): Refractive Surgery Section 13. ISBN 978-1615256570.
- ↑ Weiss, Jayne S.; Møller, Hans Ulrik; Aldave, Anthony J.; Seitz, Berthold; Bredrup, Cecilie; Kivelä, Tero; Munier, Francis L.; Rapuano, Christopher J.; Nischal, Kanwal K.; Kim, Eung Kweon; Sutphin, John; Busin, Massimo; Labbé, Antoine; Kenyon, Kenneth R.; Kinoshita, Shigeru; Lisch, Walter (February 21, 2015). "IC3D classification of corneal dystrophies--edition 2". Cornea. 34 (2): 117–159. doi:10.1097/ICO.0000000000000307. hdl:11392/2380137. PMID 25564336. S2CID 36818047.
- Vithana EN; et al. (July 2006). "Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2)". Nat. Genet. 38 (7): 755–7. doi:10.1038/ng1824. PMID 16767101. S2CID 11112294.
- Online Mendelian Inheritance in Man (OMIM): 217700
- Online Mendelian Inheritance in Man (OMIM): 121700