Posterior corneal polymorphic dystrophy

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

The rear-polymorphous corneal dystrophy (P PCD) is a very rare congenital form of a rear corneal dystrophy with small vesicular opacities of the Descemet's membrane without loss of eyesight .

Posterior corneal polymorphic dystrophy, appearance of abnormal endothelial cells in PAS response

Synonyms are: corneal dystrophy, posterior polymorphic; Schlichting Dystrophy; Schlichting dystrophy; English Maumenee Corneal Dystrophy; obsolete: Corneal Endothelial Dystrophy, Autosomal Dominant; CHED1

The first description as "Keratitis bullosa interna" comes from the year 1916 by L. Koeppe.

The names refer to publications from 1941 by H. Schlichting and from 1960 by the US ophthalmologist A. Edward Maumenee.

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease are mutations in OVOL2 - gene on chromosome 20 locus p11.23 basis.

Mutations in the COL8A2 gene on chromosome 1 at p34.3 and mutations in the ZEB1 gene on chromosome 10 at p11.22 were also reported.

Clinical manifestations

Clinical criteria are:

• Onset of illness in early childhood, usually on both sides
• usually no symptoms , only rarely impaired vision
• numerous collagen deposits on the posterior side of Descemet's membrane

Differential diagnosis

Other forms of corneal dystrophy are to be distinguished, in particular congenital hereditary endothelial dystrophy type 1 (CHED1).

literature

• I. Clausen, E. Weidle, G. Duncker, C. Grünauer-Kloevekorn: Mutation analysis in the VSX1 gene in a patient with posterior polymorphic corneal dystrophy and three families with autosomal dominant inherited Fuchs' corneal endothelial dystrophy. In: Clinical monthly sheets for ophthalmology. Vol. 226, No. 6, June 2009, pp. 466-469, doi : 10.1055 / s-0028-1109427 , PMID 19507099 .
• P. Liskova, M. Filipec, S. Merjava, K. Jirsova, SJ Tuft: Variable ocular phenotypes of posterior polymorphous corneal dystrophy caused by mutations in the ZEB1 gene. In: Ophthalmic genetics. Vol. 31, No. 4, December 2010, pp. 230-234, doi : 10.3109 / 13816810.2010.518577 , PMID 21067486 .

Individual evidence

1. ↑ ^{a b c} Corneal dystrophy, polymorphic posterior. In: Orphanet (Rare Disease Database).
2. ↑ IC3D classification
3. ↑ L. Koeppe: Clinical observations with the Nernst slit lamp and the corneal microscope. In: Albrecht von Graefes Archive for Clinical and Experimental Ophthalmology Vol. 91, 1916, pp. 363–379.
4. ^ H. Schlichting: Bladder and dell-shaped endothelial dystrophy of the cornea. In: Klinische Monatsblätter Augenheilkunde Vol. 107, 1941, pp. 425-435.
5. ↑ AE Maumenee: Congenital hereditary corneal dystrophy. In: American journal of ophthalmology. Volume 50, December 1960, pp. 1114-1124, PMID 13768390 .
6. ^ Corneal dystrophy, posterior polymorphous, 1st  In: Online Mendelian Inheritance in Man . (English)
7. ^ Corneal dystrophy, posterior polymorphous, 2nd  In: Online Mendelian Inheritance in Man . (English)
8. ^ Corneal dystrophy, posterior polymorphous, 3rd  In: Online Mendelian Inheritance in Man . (English)

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