Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
de Bruijn SE, Verbakel SK, de Vrieze E, Kremer H, Cremers FPM, Hoyng CB, van den Born LI, Roosing S. J Med Genet. 2018 Oct; 55(10):705-712. Epub 2018 Aug 17.