Figure 3. Identification of a novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen. A: Crumbs homolog 1 sequence analysis demonstrated a homozygous mutation (c.2498G>A) in exon 7. B: At the protein level, the mutation (p.Gly833Asp) alters a highly conserved amino acid residue.