Article
[Genotype-Phenotype Correlations in Patients with CRB1 Mutations].
Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2017
Papadopoulou Laiou C, Preising M N, Bolz H J, Lorenz B
Abstract excerpt
Background Mutations in the CRB1 gene were identified in patients with early-onset severe retinal dystrophy (EOSRD), childhood-onset and juvenile-onset rod-cone dystrophy. This study describes the phenotypic spectrum of disease-causing CRB1-mutations in the first two decades of life. Materials and Methods Eight patients, aged three months to 20 years, underwent a full comprehensive ophthalmological examination...
Topics
- Adolescent
- Child
- Child, Preschool
- Eye Proteins
- Female
- Genetic Markers
- Genetic Predisposition to Disease
- Genotype
- Humans
- Infant
- Male
- Membrane Proteins