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Ophthalmic Images
June 11, 2020

Genetic, Anatomical, and Functional Correlation of Sector Retinitis Pigmentosa

Author Affiliations
  • 1Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal
  • 2Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal
  • 3Association for Biomedical Research and Innovation in Light and Imaging, Coimbra, Portugal
JAMA Ophthalmol. 2020;138(6):e193133. doi:10.1001/jamaophthalmol.2019.3133

A 40-year-old woman presented with floaters in her right eye after trauma. Her uncorrected visual acuity was 20/20 OU, and biomicroscopy generated unremarkable findings in both eyes. Symmetric bone-spicule hyperpigmentation circumscribed to the inferior quadrants was seen on ophthalmoscopy, with a corresponding hypoautofluorescent area on fundus autofluorescence. An anatomofunctional correlation was observed in automated perimetry, with a superior bilateral altitudinal defect. Genetic testing revealed a mutation in the rhodopsin (RHO) gene (Figure).

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