Figure 1.

Final outcome of initial screening for variants in genes associated with retinal degeneration.

Notes: Of the initial cohort of 69 subjects with retinal degeneration, the pathogenic variants were identified in 44 subjects, heterozygous mutations consistent with the diagnosis were identified in 5 subjects, and 9 subjects had no obviously pathogenic variants and lacked relatives willing or able to enroll in the study to perform segregation analysis on potentially pathogenic variants. Eleven are good candidates for further analysis to find novel genes associated with retinal degeneration.