Detection of asymptomatic retinitis pigmentosa

Abstract

A 30-year-old female presented to our outpatient department with a chief complaint of defective vision of both eyes for the past 2 years. The defective vision was painless with a gradual onset and progressive in nature. There was the presence of nyctalopia since childhood with no history of usage of spectacles. There was no history of diabetes, hypertension, or history of consanguinity. There was a positive family history of nyctalopia in the younger brother in a family of two sons and one daughter. The patient has one son, with no complaint of nyctalopia and no evidence of RP. Similarly, the patient's grandparents had no complaint of nyctalopia. This pattern on the pedigree chart gave us an autosomal recessive pattern (Fig. 1).General examination was normal and vitals were within normal limits. Eyes were orthophoric with no face turn or head tilt. The best-corrected visual acuity was 6/9p with -1.75Dcyl × 10° in the right eye and 6/6 with -1.25Dcyl × 160° in the left eye. Anterior segment examination was normal. Slit-lamp biomicroscopy with 90 D showed waxy pallor, obliterated cup, arteriolar attenuation, and bony spicules in the periphery in both eyes (Fig. 2). Intraocular pressure was normal in both eyes. Visual fields on perimetry were done and the findings were suggestive of tubular vision in both eyes due to damage to rod photoreceptors in the mid-periphery (Fig. 3). Based on the clinical findings, a diagnosis of typical RP was made though initially was thought to have only refractive error only.