A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration
Figure 1
The pedigree of the family 1085, with autosomal dominant retinitis pigmentosa.
Normal individuals are shown as clear circles (female) or squares (male), and affected individuals are shown as solid symbols. Patients with fovea centralisareflexia are highlighted in red. This family contains six generations in total (shown in Roman numerals). Individuals with the PFPR31 gene mutation in the form of incomplete penetranceare are shown in green (samples 5, 42, 46, and 56).