Retinitis Pigmentosa Mimicking Uveitis. A Case Report

Authors: E. Szabó;  M. Brichová;  P. Lišková;  P. Svozílková;  E. Říhová
Authors‘ workplace: Oční klinika, 1. lékařská fakulta, Univerzita Karlova v Praze a Všeobecná fakultní nemocnice v Praze, přednosta doc. MUDr. Bohdana Kalvodová, CSc.
Published in: Čes. a slov. Oftal., 69, 2013, No. 1, p. 32-36
Category: Case Report


To describe a case report of a 23-year-old patient with retinitis pigmentosa (RP) misdiagnosed as uveitis.

A comprehensive eye examination including automated visual field assessment, contrast sensitivity, colour vision discrimination, ultrasound examination (US), spectral domain optical coherence tomography (SD-OCT) and full-field electroretinography (ERG) was performed in a patient diagnosed elsewhere as having intermediate uveitis because of the observation of a cellular reaction in the anterior chamber, bilateral cystoid macular oedema and suspected left optic disc swelling.

The patient reported nyctalopia. The best corrected visual acuity in both eyes was 6/12. Concentric visual field constriction was detected bilaterally (less than 25 degrees in the right eye and 15 degrees in the left eye). Fundus examination revealed a few pigment clumps and cystoid macular edema in both eyes confirmed by SD-OCT. Contrast sensitivity was decreased to 1,20 in the right and 0,9 in the left. No colour vision disturbance was present. The B scan ultrasound showed left optic disc drusen. Rod ERG responses were bilaterally not detectable and cone ERGs were abnormally reduced. Based on the examination results, a diagnosis of nonsyndromic RP was made.

Clinicians should be aware of various manifestations of RP, including mild inflammation, to avoid possible confusin with uveitis.

Key words:
benign masquerade syndrome, retinitis pigmentosa


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