A previously unreported RPGR gene variant in a female patient with X-linked retinitis pigmentosa.

Abstract

We present the case of a 40-year-old woman with a history of high myopia and nyctalopia. Her best-corrected visual acuity was 20/80 in the right eye and 20/100 in the left eye. Fundus examination revealed generalized vascular attenuation, optic nerve pallor, and bone spicule pigmentation. Fundus autofluorescence in both eyes showed a Robson-Holder ring in the macula and multiple hypoautofluorescent lesions in the peripheral retina. Macular optical coherence tomography scans revealed a generalized thinning of retinal layers, with atrophy of the outer retinal layers. 10-2 visual fields revealed a small island of central vision in both eyes, and full field electroretinogram showed absence of scotopic and photopic responses. Genetic studies documented a rare variant in the RPGR gene (c.1991C>G p.(Ser664*)). Findings compatible with retinitis pigmentosa in our patient suggests that this mutation is pathogenic. Further study is required to confirm this hypothesis.