Title

ATYPICAL RETINAL DYSTROPHY – CASE REPORT

Introduction

This report shows the case of a patient with an atypical retinal dystrophy correlating the findings of the ophthalmological evaluation with those described in the literature.

Methods

A case report of a 66-year-old woman with complaint of bilateral visual loss. Data collection was based on patient's records while being monitored in the service of Retina Curitiba/ Hospital da Visão de Curitiba.

Results

TMS, female, 66 years old, referred due to mild visual loss. The patient presents a history of idiopathic juvenile artrithis, hearing loss since childhood and amaurotic mother without a definite cause. On examination, best corrected visual acuity (BCVA) was 20/40 in both eyes and indirect binocular ophthalmoscopy showed atrophy of EPR in the posterior pole, pallor of the optic disc, bone spicules in the periphery and vascular thinning. Complementary exams indicated: Optical coherence tomography - thinning of the outer layer of the retina; Electroretinography - increased response latency and wave amplitude close to the lower limit, affecting photopic and scotopic response; Visual field - with intense decrease in total retinal sensitivity; Audiometry - showed sensorineural hearing loss from 2 kHz bilaterally.

Discussion

Main diagnosis suggested is Retinitis Pigmentosa (RP), the most common form of hereditary retinal dystrophies. In the optical coherence tomography exam, we can find edema, fibrosis or atrophy of the retinal layers in the macula, which differs from the atrophy aspect of the external retinal ring layers as described in this case. In general, the electrophysiological aspect in RP can be very variable. We must take into account other retinal dystrophies and the causes of pigmentary pseudoretinosis such as infectious, paraneoplastic and drug toxicity. Determining the genetic abnormality of retinal dystrophy help the diagnosis, predict the prognosis and family risks and suggest the best treatment.

Keywords

Retinal Dystrophy.

Area

CLINICAL CASE

Authors

Henrique Zanotelli Ribeiro, Arthur Onofre Beltran Filho, Bianca Luiza Valduga Guareschi, Amanda Geara, Ana Carolina Carvalho, Eric Vieira, Danilo Aedo Gardim Camilo, João Guilherme Oliveira Moraes