Overview

Retinitis punctata albescens (RPA) is a subtype of retinitis pigmentosa. It primarily has an autosomal recessive inheritance pattern and presents with diffuse white punctate retinal lesions.

Symptoms include nyctalopia and peripheral visual field loss in the earlier stages, progressing to central vision loss over time.

Diagnosis is confirmed with electrophysiology testing which shows significantly diminished or absent scotopic ERG responses, subnormal photopic response, and prolonged dark adaptation.

Differential diagnosis includes fundus albipunctatus which also features night blindness with white lesions. However, there are typically no bone spicules, vascular attenuation, or disc pallor. Fundus albipunctatus is a subtype of congenital stationary night blindness and has a more slowly progressive clinical course when compared to the RPA.

Differential Diagnosis

References

Hipp, S., Zobor, G., Glöckle, N., Mohr, J., Kohl, S., Zrenner, E., Weisschuh, N. and Zobor, D. (2015), Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene. Acta Ophthalmol, 93: e281-e286.