Title

AN ATYPICAL CASE OF RETINITIS PIGMENTOSA, MANAUS-AM

Introduction

Female, 59, white, diabetic, with a previously treated breast cancer, referring a gradual decrease in visual acuity (VA) and visual field (VF) over two years.

Methods

VA two years ago was 20/60 in the right eye and 20/80 on the left eye. Fundoscopy on both eyes showed a healthy optic disc with no signs of glaucoma, general vessel and retinal pigmented epithelium (RPE) thinning and an absence of the characteristic foveal luster. Spicule-like pigmented lesions were isolated in the extreme peripheral region. VA and VF tests, however, often fluctuated, and while in some light conditions the patient presents with the same vision as before, but with tubular vision, she is completely unable to roam by herself and often appears to show a hand motions-like VA.

Results

Due to the atypical onset of complaints and drastic VF worsening progression, Retinitis Pigmentosa (RP) was not considered at first. While she did have spicule-like lesions in the periphery, the posterior pole didn’t match a patient presenting tubular vision that often emulated a hand motions VA. Ischemic Optic Neuropathy was considered, but neurological evaluation, magnetic resonance imaging and electroencephalogram were all normal. However, macular Optical Coherence Tomography showed a large-scale absence of the photoreceptor line, notably in the foveal region, tying it back to the retinal dystrophy diagnosis

Discussion

RP is a heterogeneous group of hereditary diseases, with progressive and generalized loss of photoreceptors and RPE, along with visible pigment deposits called bone spicules, which gradually cause nocturnal blindness and a progressive decrease in VF and VA. Diagnosis criteria include bilaterality, loss of peripheral vision and progressive deterioration of the photoreceptors function. The classic triad is arteriolar thinning, bone spicules and disc pallor. This report aims to present an atypical presentation of RP, with a late-onset of VF worsening and general disrelation between fundus examination and disease progression.

Keywords

Retinitis; dystrophy; retina

Area

CLINICAL CASE

Authors

Ana Carolina Castro De Oliveira, Ledayana Claudia DE Oliveira Cavalcanti, Gustavo Vitor Barbosa Bomfim, Naiane Ramos Vidal, Bruna Barbosa Oliveira Macedo, Daniel Martins Correa Do Santos, Sigrid Arruda, Matheus de Souza Cerveira Pereira