Congenital hereditary endothelial dystrophy

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Congenital hereditary endothelial dystrophy
Other namesMaumenee corneal dystrophy [1]
Congenital hereditary endothelial dystrophy 1.JPEG
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.

Contents

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

Signs and symptoms

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]

Genetics

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]

Pathology

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 ]

Diagnosis

Management

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]

See also

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Descemets membrane

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Sodium bicarbonate transporter-like protein 11

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Macular corneal dystrophy Medical condition

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Posterior polymorphous corneal dystrophy Medical condition

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Corneal opacity Medical condition

The human cornea is a transparent membrane which allows light to pass through it. The word corneal opacification literally means loss of normal transparency of cornea. The term corneal opacity is used particularly for the loss of transparency of cornea due to scarring. Transparency of the cornea is dependent on the uniform diameter and the regular spacing and arrangement of the collagen fibrils within the stroma. Alterations in the spacing of collagen fibrils in a variety of conditions including corneal edema, scars, and macular corneal dystrophy is clinically manifested as corneal opacity. The term "corneal blindness" is commonly used to describe blindness due to corneal opacity.

References

  1. 1 2 3 4 Bowes Hamill, M. (2015). 2015-2016 Basic and Clinical Science Course (BCSC): Refractive Surgery Section 13. ISBN   978-1615256570.
  2. 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.
  3. 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.
  4. Online Mendelian Inheritance in Man (OMIM): 217700
  5. Online Mendelian Inheritance in Man (OMIM): 121700