Cone-rod dystrophies (CRDs) represent a clinically and genetically heterogeneous group of chorioretinal dystrophies characterized by gradual loss of visual acuity, central visual field defects, and photophobia. We investigated a Swiss family with autosomal dominant CRD (adCRD). Members of 3 generations showed reduced visual acuity and abnormalities on electroretinograms compatible with CRD. Blood was taken from 5 affected and 4 unaffected family members, as well as from 2 children at risk (Figure 1).
Maike Weigell-Weber, Siv Fokstuen, Bèla Török, Günter Niemeyer, Albert Schinzel, Martin Hergersberg. Codons 837 and 838 in the Retinal Guanylate Cyclase Gene on Chromosome 17p: Hot Spots for Mutations in Autosomal Dominant Cone-Rod Dystrophy?. Arch Ophthalmol. 2000;118(2):300. doi:10.1001/archopht.118.2.300