Congenital hereditary endothelial dystrophy

Classification according to ICD-10
H18.5	Hereditary corneal dystrophies
ICD-10 online (WHO version 2019)

The congenital hereditary endothelial dystrophy (CHED) is a very rare congenital form of a rear dystrophy with frosted glass-like haze and significant thickening of the cornea already at or shortly after birth .

Definition of terms

Depending on the inheritance mechanism, a distinction was made between two forms:

• Type I (CHED1), autosomal dominant with progressive corneal opacity beginning during the first years of life
• Type II (CHED2), autosomal recessive with corneal opacity already at birth or infancy

Due to recent genetic studies, CHED1 is currently counted as a special form of the posterior polymorphic corneal dystrophy .

The term “CHED” is now used synonymously with the earlier designation “Type II” or “CHED2”.

distribution

The frequency is given as 3 in 100,000 newborns, the inheritance is autosomal - recessive .

root cause

The disease are mutations in SLC4A11 - gene on chromosome 20 locus p13-q11.2 (perizentrometrische Region) based on which borates encodes for a cotransporter Sodium.

Clinical manifestations

Clinical criteria are:

• Onset of the disease at birth or in the newborn with corneal opacity
• Corneal edema without progression

Differential diagnosis

Other forms of corneal dystrophy are to be distinguished.

literature

• H. AlArrayedh, L. Collum, CC Murphy: Outcomes of penetrating keratoplasty in congenital hereditary endothelial dystrophy. In: The British journal of ophthalmology. [Electronic publication before going to press] May 2017, doi: 10.1136 / bjophthalmol-2016-309565 , PMID 28478395 .

Individual evidence

1. ↑ ^{a b c} S. P. Patel, MD Parker: SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy. In: BioMed research international. Vol. 2015, 2015, p. 475392, doi: 10.1155 / 2015/475392 , PMID 26451371 , PMC 4588344 (free full text) (review).
2. ↑ ^{a b} Eyewiki
3. ↑ IC3D classification
4. ↑ emedicine
5. ↑ Endothelial dystrophy, hereditary congenital 1. In: Orphanet (database for rare diseases).
6. ↑ Endothelial dystrophy, hereditary congenital, type II. In: Orphanet (database for rare diseases).
7. ^ AJ Aldave, J. Han, RF Frausto: Genetics of the corneal endothelial dystrophies: an evidence-based review. In: Clinical genetics. Vol. 84, No. 2, August 2013, pp. 109-119, doi: 10.1111 / cge.12191 , PMID 23662738 , PMC 3885339 (free full text) (review).
8. ↑ KK Nischal: Genetics of Congenital Corneal opacification Impact on Diagnosis and Treatment. In: Cornea. Vol. 34 Suppl 10, October 2015, pp. S24-S34, doi: 10.1097 / ICO.0000000000000552 , PMID 26352876 (review).
9. ↑ JS Weiss, HU Møller, AJ Aldave, B. Seitz, C. Bredrup, T. Kivelä, FL Munier, CJ Rapuano, KK Nischal, EK Kim, J. Sutphin, M. Busin, A. Labbé, KR Kenyon, p Kinoshita, W. Lisch: IC3D classification of corneal dystrophies – edition 2. In: Cornea. Vol. 34, No. 2, February 2015, pp. 117–159, doi: 10.1097 / ICO.0000000000000307 , PMID 25564336 .
10. ↑ Corneal endothelial dystrophy, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)

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