Corneal congenital stromal dystrophy
| Classification according to ICD-10 | |
|---|---|
| H18.5 | Hereditary corneal dystrophies |
| ICD-10 online (WHO version 2019) | |
The Congenital stromal corneal dystrophy (CSCD) is a very rare congenital form of a stroma localized corneal dystrophy with flake or spring-like clouding of the cornea and loss of vision .
Synonyms are: Witschel dystrophy; Congenital hereditary stromal dystrophy; Congenital stromal dystrophy of the cornea
The name refers to the first author of a description from 1978 by the German ophthalmologist Heinrich Witschel and colleagues.
The first description is from 1939 by Raymond Turpin and co-workers.
The term “Turpin Syndrome” has not caught on.
distribution
The frequency is given as less than 1 in 1,000,000, so far four families have been described. The inheritance is autosomal dominant .
root cause
The disease are mutations in DCN - gene on chromosome 12 locus q21.33 based encoding decorin.
Clinical manifestations
Clinical criteria are:
- Onset of illness as a newborn , sometimes corneal changes on both sides even before birth
- increasing scales and spots, impaired vision
- no erosions , photophobia or vascular sprouting into the cornea
Differential diagnosis
Other forms of corneal dystrophy are to be distinguished.
literature
- JH Lee, CS Ki, ES Chung, TY Chung: A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family. In: Korean journal of ophthalmology: KJO. Volume 26, No. 4, August 2012, pp. 301-305, doi: 10.3341 / kjo.2012.26.4.301 , PMID 22870031 , PMC 3408537 (free full text).
- GK Klintworth: Corneal dystrophies. In: Orphanet Journal of Rare Diseases. Volume 4, February 2009, p. 7, doi: 10.1186 / 1750-1172-4-7 , PMID 19236704 , PMC 2695576 (free full text) (review).
Individual evidence
- ↑ a b c Corneal dystrophy, stromal, congenital. In: Orphanet (Rare Disease Database).
- ↑ IC3D classification (PDF)
- ^ H. Witschel, BS Fine, P. Grützner, JW McTigue: Congenital hereditary stromal dystrophy of the cornea. In: Archives of ophthalmology. Vol. 96, No. 6, June 1978, pp. 1043-1051, PMID 350201 .
- ^ R. Turpin, M. Tisserand, J. Serane: Opacites corneennes hereditaires et congenitales reparties sur trois generations et atteignant deux jumelles monozygotes. In: Archives d'Ophtalmologie (Paris) Vol. 3; Pp. 109-111, 1939.
- ^ Y. Pouliquen, E. Lacombe, C. Schreinzer, JP Giraud, M. Savoldelli: La dystrophie congenitale hereditaire du stroma corneen de Turpin. In: Journal français d'ophtalmologie. Vol. 2, No. 2, February 1979, pp. 115-125, PMID 312637 .
- ↑ Corneal dystrophy, congenital stromal. In: Online Mendelian Inheritance in Man . (English)
