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Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.
Maubaret Cécilia G, Vaclavik Veronika, Mukhopadhyay Rajarshi, Waseem Naushin H, Churchill Amanda, Holder Graham E et al.
Invest Ophthalmol Vis SciDec 201141 citationsCase Series
This study found PRPF8 mutations cause adRP with significant variability and incomplete penetrance within families, meaning PRPF8 should be considered in adRP patients with diverse symptoms.