A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, European Retinal Disease Consortium, et al. Am J Hum Genet. 2012 Sep 7; 91(3):527-32. Epub 2012 Aug 16.