CMR1 - Multifocal Retinopathy/Générique

Retinal detachments

Description: 
Retinal pigment epithelial dysplasia causing localized multifocal retinal detachments
Symptomes: 
In the mild form, no vision disorders are reported despite the abnormal retina. In the severe form, lesions can lead to blindness
Age d'aparition: 
Before 4 months old
Fréquence: 
Not available
Gène impliqué: 
BEST1
Mutation testée: 
c.73C>T
Transmission: 
Autosomal Recessive
Brevet: 
_
Remarques: 
_