Although a splice mutation of Mfrp causes a recessive retinal degeneration in the rd6 mouse [19,20], recessive mutations of MFRP have been detected in humans with nanophthalmos [8] and have been reported to be associated with an autosomal recessive ophthalmic syndrome characterized by posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen [21,22]. Here, MFRP is linked to retinitis pigmentosa.