Purpose: The aim of this study was to describe a case of nonclassic retinitis pigmentosa, to highlight ancillary testing tools for proper diagnosis, and to differentiate between common hereditary fundus dystrophies.
Methods: Methods used in this study included complete ophthalmologic evaluation, optical coherence tomography, visual field testing, pedigree analysis, and electrodiagnostic testing.
Results: Reduced vision and photopsia were the initial complaints of a patient who had an overall normal ocular appearance. However, a strong family history of retinitis pigmentosa and depressed scotopic and photopic electroretinograms confirmed the diagnosis of autosomal dominant retinitis pigmentosa.
Conclusion: In cases of atypical-appearing retinitis pigmentosa, both pedigree analysis and electrodiagnostic testing are fundamental in correct diagnosis of this multifaceted hereditary fundus disorder.
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