Retinitis pigmentosa-96 (RP96) is characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade. Funduscopy shows the typical features of RP, including bone-spicule pigmentation, attenuation of retinal vasculature, optic disc pallor, and cystic macular edema. Unlike patients with biallelic mutations in the SAG gene, they do not show the golden sheen of the fundus that is typical of Oguchi disease (Sullivan et al., 2017).
For a general phenotypic description and discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from
OMIM]