Nonclassic retinitis pigmentosa: A challenging clinical diagnosis solved by pedigree analysis and electrodiagnostic...

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 used in this study included complete ophthalmologic evaluation, optical coherence tomography, visual field testing, pedigree analysis, and electrodiagnostic testing.

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.

In cases of atypical-appearing retinitis pigmentosa, both pedigree analysis and electrodiagnostic testing are fundamental in correct diagnosis of this multifaceted hereditary fundus disorder.