Homozygous mutations in the RLBP1 gene (15q26.1) have been identified in patients with Bothnia retinal dystrophy. The protein product is essential to the proper function of both rod and cone photoreceptors. When defective the normal cycling of retinoids between RPE cells and photoreceptors is disrupted, thereby negatively impacting what is sometimes called the 'visual cycle'.
This rod-cone dystrophy has a high prevalence in northern Sweden.
Homozygous mutations in RLBP1 have also been found among patients in fundus albipunctatus (136880), retinitis punctata albescens, and in Newfoundland type retinal dystrophy (607476).