Characterization of Pupil Responses to Blue and Red Light Stimuli in Autosomal Dominant Retinitis Pigmentosa due toNR2E3Mutation

Patients with the Gly56Arg mutation of the NR2E3 gene exhibited significantly higher threshold intensities for pupil responses to blue light compared to controls.

• In dark-adapted conditions, patients had higher thresholds for visual perception and pupil response to blue light (P = 0.02 and P = 0.006, respectively).
• Rod-dependent pupil responses to blue light decreased with disease progression.
• Cone-dependent pupil responses to red light did not differ between patients and controls.
• The difference in retinal sensitivity to blue and red stimuli was the most sensitive marker of photoreceptor dysfunction.
• Melanopsin-mediated pupil responses were reduced in patients (P = 0.02).
• Rod-dependent pupil responses correlated with the severity of clinical disease and could be measured even in patients with non-recordable scotopic electroretinogram.

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