​NR2E3 is a nuclear transcription factor that can act as a transcriptional activator and repressor. Mutations in the NR2E3 gene can cause retinitis pigmentosa (RP). Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases. Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family. 

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Symptoms include tunnel vision, difficulty seeing colors, especially blue, gradual vision loss, partial or complete, clumsiness due to poor vision, loss of night vision, difficulty adjusting to light changes, and difficulty seeing in low light or bad weather.

At this time, there's no cure for RP, but medications can help treat complications. A one-time injection of OCU400 can improve regulation of multiple functions in the retina. ​Researchers looking into potential new gene-independent therapy for retinal degeneration.

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This is for informational purposes only. For medical advice or diagnosis, consult a professional. 

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