Figure 2. Families with NR2E3 mutations

Of 92 families screened for the Gly56Arg mutation, three families carrying the mutation were identified. Black circles/squares indicate affected family members. Stars above symbols indicate patients examined at the Retina Foundation of the Southwest who were tested for the mutation. All affected individuals tested were heterozygous for the c.356G>A mutation. A: Family RFS029. B: Family RFS179. C: Family RF268.