Significance: Due to the limited number of reported cases little is known about the characteristics of unilateral retinitis pigmentosa. Information from additional case reports can aid in learning more about the condition. We report a case of retinitis pigmentosa that has remained unilateral for 28 years and review the available literature.
Case Report: A 40-year-old Caucasian female presented for an opinion as to the cause of her vision loss. Fundus autofluorescence demonstrated hypoautofluorescence in the midperipheral retina and a hyperautofluorescent ring surrounding the area of preserved photoreceptors in the macula. Optical coherence tomography showed disruption of the ellipsoid zone and the external limiting membrane. Electroretinography (ERG) showed severely reduced rod and cone function monocularly.
Discussion: Retinitis pigmentosa is typically bilateral and symmetric. Unilateral retinitis pigmentosa is a rare condition that manifests with only one eye having changes typical of retinitis pigmentosa. The unaffected eye can have no signs of retinitis pigmentosa and must have a normal ERG after long-term follow up. It is critical to rule out inflammatory, traumatic, toxic, and cancer associated retinopathy that can present with retinal pigmentary changes. Unilateral retinitis pigmentosa generally remains unilateral, but long-term follow up with ERG is important. There is currently no treatment that can stop the process of retinitis pigmentosa, but gene therapy shows promise.