Norrie Syndrome
| Classification according to ICD-11 | |
|---|---|
| LD21.Y | Other specified syndromes with eye anomalies as a major feature |
| ICD-11 ( WHO version 2019) | |
The Norrie disease , also known under the synonyms Norrie Warburg syndrome , atrophy Bulborum hereditary , pseudoglioma and Norrie disease is a relatively rare syndrome complex based on a gene mutation with recessive X-chromosomal inheritance . The gene location in question is Xp11.4-p11.2 (NDP).
The peculiarity occurs mostly in boys or men ( androtropia ) and is sometimes a. characterized by congenital blindness and severe hearing loss , sometimes even deafness .
Frequency of occurrence
With a few exceptions, Norrie syndrome only occurs in males. It was first described from a scientific point of view in 1959 and since then more than 240 cases have been documented, with the possibility of the syndrome being more common but not diagnosed as Norrie syndrome. An occurrence frequency of 1: 100,000 is assumed.
Symptoms
Congenital blindness is the result of a severe disturbance in eye development ( persistent hyperplastic primary vitreus ), which is usually detected immediately after birth . Bilateral (bilateral) pseudogliomatous hyperplasia of the retina is characteristic (retinal hyperplasia / retinal detachment), which is probably due to an early disturbance of the embryonic retinal development. In addition, there is retinal detachment, atrophy of the iris (rainbow skin), progressive opacities of the cornea , the lens ( cataract ) and the vitreous humor, as well as nystagmus (eye tremors ) and the development of bulb atrophy within the first ten years after birth.
In about one in three boys with Norrie syndrome, progressive cochlear hearing loss (inner ear hearing loss) becomes evident at school age.
About half of the people with Norrie syndrome have impaired intelligence and behavioral problems, although it is not clear whether the latter should be viewed as an independent symptom or as a concomitant or consequence of the sensory impairments .
Some people with Norrie syndrome do not develop deafness or blindness ( Coats disease ).
therapy
So far (2015) no adequate therapy options for causal healing are known.
The Norrie syndrome can be diagnosed prenatally through the prenatal diagnosis of the peculiarity by means of a chorionic villus sampling as part of prenatal diagnosis .
See also
literature
- R. Witkowski, O. Prokop, E. Ullrich, G. Thiel: Lexicon of the syndromes and malformations. Springer, 2003, ISBN 3-642-62927-X , pp. 938-939.
- M. Richter: Morphological changes in the retinal vascular system in transgenic mice for Norrie syndrome 1998, DNB 95650793X .
- GC Black, R. Preveen, R. Bonshek et al: Coat's disease of the retina (unilateral retina telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis. In: Hum. Molec. Genet. 8. 1999, pp. 2031-2035.
- Y. Ravia, O. Brasier-Goldstein, KM Bat-Miriam et al .: X linked recissive primary retinal dysplasia is linked to the Norrie desease locus. In: Hum. Molec. Genet. 2. 1993, pp. 1295-1297.
- W. Berger, D van de Pol, M Warburg et al .: Mutations in the candidate gene for Norrie disease. In: Hum.Molec.Genet. 1, 1992, pp. 461-465.
- A. Gal, B. Wieringa et al .: Submicroscopic intestinal deletion on the X-chromosome explains a complex genetic syndrome dominated by Norrie desease. In: Cytogenet. Cell Genet. 42. 1986, pp. 219-224.
