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...
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