LAUSR

Peripherin 2-associated retinopathies are phenotypically heterogenous and can present as autosomal dominant retinitis pigmentosa, cone-rod dystrophy, various forms of macular and pattern dystrophies, or recessive retinopathy (1,2). We report a case of rod-cone dystrophy associated with the variant c.500G>A, p.(Gly167Asp) in PRPH2 (OMIM 179605), which was previously reported to cause autosomal dominant butterfly-shaped pigment dystrophy of the fovea in a threegeneration pedigree (MIM 169150) (3). A 66-year old British woman of European ancestry was referred to the inherited retinal disorders clinic with bilateral pigmentary retinopathy, and a 5-year history of nyctalopia. There were no knowingly affected family members; her late father and mother had normal vision in their sixties and eighties respectively, and the patient’s two children had no symptoms in their third decade of life. Previously, she underwent laser refractive surgery for myopia, bilateral cataract extraction and laser posterior capsulotomy. On examination, the Snellen visual acuity was 20/30 in the right eye, and 20/80 in the left eye; and color vision (Ishihara plates) was normal bilaterally. Color fundus imaging showed bilateral peripapillary atrophy in keeping with myopia, and peripheral patches of pigment epithelial atrophy and some intraretinal pigmentation. Fundus autofluorescence imaging showed symmetrical hypo-autofluorescent spots distributed along the major vascular arcades with peripapillary sparing, anterior to the myopic crescent. A macular hyper-autofluorescent ring, often seen in retinitis pigmentosa (4), was absent (Figure 1b). Spectral-