|autosomaal recessieve bestrofinopathie (aandoening)|
autosomaal recessieve bestrofinopathie
Autosomal recessive bestrophinopathy
Retinopathy Burgess Black type
A retinal dystrophy with characteristics of central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). To date less than 20 cases have been described in the world literature. Caused by compound heterozygous or homozygous mutations in the BEST1 gene (11q12) which encodes the chloride ion channel bestrophin-1 (expressed in the retinal pigment epithelium (RPE)). Mutations in BEST1 reduce or abolish the activity of the channel. It has been proposed that ARB may represent the null phenotype of bestrophin-1 in humans. Transmission is autosomal recessive.
|referentieset met complexe 'mapping' naar ICD-10|
|Correlation||SNOMED CT source code to target map code correlation not specified|