Retinitis Pigmentosa

A patient presented with progressive loss of vision since eight years of age. His BCVA in the right eye was 20/300 and the left eye was 20/800. Anterior segment examination showed posterior subcapsular cataract in both eyes. Posterior segment examination showed bony spicule pigmentation, attenuated arterioles in both eyes. Full field ERG revealed flat waves in both scotopic and photopic response. Genetic testing showed a positive pathogenic variant p.pro347leu in RHO gene. Conclusion: Diagnosis of RP and other IRD can be challenging due to overlapping symptoms. Genetic counseling and molecular testing are essential for accurate diagnosis and accessing clinical trials in selected cases.

Presentation Date: 12/05/2024

Issue Date: 01/31/2025