A rare inherited form (OMIM:136880) of stationary night blindness which is characterised by discrete uniform white dots over the entire fundus with greatest density in the midperiphery, no macular involvement, and a delay in cone and rod photopigment regeneration. The condition may overlap with retinitis punctata albescens.
Molecular pathology Defects of:
• RDH5, which encodes retinol dehydrogenase 5, an enzyme that catalyses the final step in 11-cis retinaldehyde synthesis, and
• RLBP1, which encodes retinaldehyde binding protein 1, a protein that carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands, cause fundus albipunctatus.