Purpose: To investigate and integrate anatomic and physiologic findings from a group of patients who present retinitis pigmentosa affecting just one eye and use this information to propose mechanisms of disease pathogenesis.
Methods: This prospective cross-sectional study examined 5 patients, all female, from 8 to 60 years old. The study was conducted in 4 university hospitals. The patients were selected according to the characteristics of ocular involvement, notably unilateral presentation of similar anatomic and functional abnormalities. Full-field electroretinogram, fundus photography, fundus autofluorescence, infrared imaging, optical coherence tomography, and genetic testing were performed.
Results: Full-field electroretinogram showed unilateral decrease in amplitude and increase in implicit time; autofluorescence showed unilateral areas of decreased intensity. The USH2AW4149R mutation was confirmed in one patient.
Conclusions: Imaging and functional testing are important in elucidating the unilateral pattern of the disease and in monitoring these individuals. Mosaicism or somatic mutation may cause unilateral genetic disease presentation.