BILATERAL RETINITIS PIGMENTOSA: A CASE REPORT OF A RARE INHERITED RETINAL DISORDER

Abstract

Retinitis Pigmentosa is hereditary with progressive damage of the photoreceptors of the retina. Multiple gene defects associated with autosomal recessive, autosomal dominant, and X-linked inheritance patterns have all been related to the cause of RP. We reported a case of bilateral RP on a 30-year-old male patient. Diagnosis of RP was determined by presented symptoms from auto anamnesis and supported by funduscopic findings, a bone spicule-shaped clumping of disrupted retinal pigment epithelium, and attenuated retina vessels. This case report depicts the clinical features of a female patient with bilateral retinitis pigmentosa (RP) who presented in Doris Sylvanus Hospital, Palangka Raya at the age of 30-year-old. Clinical findings showed uncorrected visual acuity of 2/60 (OD) and 2/20 (OS). On funduscopic examination found bone spicule-shaped pigment deposits located in the mid-periphery retina while the macula was still preserved. Retinal vessels were attenuated. In early childhood, the patient complained of visual loss which was also found in his sibling. Within 28 years, the complete clinical manifestation of IRP developed with the signs of pale optic disc, narrow arterioles, and irregular pigment aggregates observed in both periphery eyes. In this report, we provide an overview of the characteristics of an inherited retinitis pigmentosa case. Three main symptoms found in this case are early visual loss, degeneration in the retina, and hereditary RP. Therefore, based on clinical examination, the patient was diagnosed with bilateral hereditary RP.