Retinal dysplasia
| Classification according to ICD-10 | |
|---|---|
| Q14.1 | Congenital dysplasia of the retina |
| ICD-10 online (WHO version 2019) | |
The retinal dysplasia Reese Blodi (also Reese syndrome or Krause-Reese syndrome ) is a congenital dysplasia of the retina receives the primary glass body ( Persistent hyperplastic primary vitreous ), along with abnormalities in the brain and intestines.
Synonyms are: English Familial encephalo-retinal dysplasia , Krause's syndrome , Reese-Blodi retinal dysplasia , Reese-Blodi-Krause syndrome , encephalo-ophthalmic dysplasia .
The name refers to a description from 1950 by the US ophthalmologists Algernon B. Reese (1896–1981), Frederick C. Blodi (1917–1996) and in 1946 by the US ophthalmologist Arlington Colton Krause (1896-1980).
distribution
The disease characteristically occurs in trisomy 13 ( Pätau syndrome ). It was autosomal - recessive and autosomal dominant inheritance described.
Clinical manifestations
Clinical criteria are:
- Severe retinal dysplasia with retention of the primary vitreous, synechiae , microphthalmia , iris coloboma , orbital cysts
- Brain malformations such as hydrocephalus , encephalocele , meningocele , brain hypoplasia , dysplasia of the cerebellum and the brain stem
- Lung malformations such as aplasia or hypoplasia, atelectasis and diaphragmatic hernia
- Gastrointestinal disorders such as duodenal atresia , gallbladder hypoplasia, omphalocele
- Jaw cleft palate , micrognathia , club foot , syndactyly , polydactyly
- Heart defect
Differential diagnosis
A microphthalmos of another cause, the Norrie syndrome , retinoblastoma , Gregg syndrome and Terry syndrome must be differentiated .
history
The first description was probably made by Stephan Bernheimer (1861–1918) in 1891 and by Dötsch in 1899.
literature
- A. Matthes, K. Stenzel: Familial, encephalo-retinal dysplasia (Krause-Reese syndrome) with myoclonic-astatic petit mal. In: Journal of Pediatrics. Vol. 103, No. 2, 1968, ISSN 0044-2917 , pp. 81-89, PMID 4971760 .
Individual evidence
- ↑ a b c d Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ AB REESE, FC BLODI: Retinal dysphasia. In: American journal of ophthalmology. Vol. 33, No. 1, January 1950, ISSN 0002-9394 , pp. 23-32, illust, PMID 15400059 .
- ^ AC KRAUSE: Congenital encephalo-ophthalmic dysplasia. In: Archives of ophthalmology. Vol. 36, No. 4, October 1946, pp. 387-344, PMID 21002031 .
- ↑ Who named it
- ^ Retinal dysplasia. In: Online Mendelian Inheritance in Man . (English)
- ^ S. Bernheimer, in: Archiv für Ophthalmologie , Berlin, 1891, Vol. 37, p. 192.
- ↑ A. Dötsch: Anatomical investigations of a case of microphthalmus congenitus bilateralis. In: Archives for Ophthalmology , Berlin, 1899, Vol. 48, p. 59.
