A Case of Late Presenting Retinitis Pigmentosa in an Adult Female

Authors: Vongole H , Onkar A* , Kumari R and Gupta M

DOI: 10.23880/oajo-16000336

Volume 10, Issue 1

Abstract

This study aimed to bring to light a case of non-syndromic Retinitis Pigmentosa in a middle-aged female. A 39-year-old female complained of blurred vision that started 3 years ago. It initially affected her distant vision, mainly in low-light conditions, followed by the involvement of near vision as well. On fundus examination, bony spicule-like pigmentation was found peripherally, waxy pallor of the optic disc was present, severe arteriolar attenuation was found, and macular edema was present. The patient was prescribed vitamin A 15,000 IU and asked to come for a follow-up for a low visual aid assessment. This case report highlights the devastating effects of Retinitis Pigmentosa and the need for early diagnosis to slow the progression of vision loss. The peculiarity of this report lies in the fact that the patient showed symptoms very late, when usually RP is diagnosed in adolescence which also progressed rapidly within 3 years to involve distant and far vision. The absence ofany family history is also notable as it may indicate an autosomal recessive inheritance with low-penetrance or a sporadicmutation.

Keywords: Retinitis Pigmentosa; Autosomal Recessive Inheritance; Low-Penetrance; Sporadic Mutation; Progressive Degeneration; Photoreceptor Cells; Waxy Pale Disc; Arteriolar Attenuation; Peripheral Bony Spicule

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