Retinitis pigmentosa-47 (RP47) is characterized by relatively late-onset visual decline, although most patients experience night blindness in childhood. A characteristic golden sheen, considered to be pathognomonic for Oguchi disease (258100), may be observed in the periphery on ultra-widefield fundus images (Nishiguchi et al., 2019).
For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from
OMIM]