These data, along with our observations, suggest that MFRP mutations in both mice and humans lead to a fundus phenotype characteristic of “typical” retinitis pigmentosa, with retinal pigmentary changes occurring in the form of fine mottling or granularity with surrounding areas of atrophy in the earlier stages followed by the typical “bone-spicule” pattern of hyperpigmentation in midperipheral retina, at later stages. The gene discussed is MFRP; the disease is retinitis pigmentosa.