Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation

RP1 and autosomal dominant rod–cone dyst

RP1 and autosomal dominant rod–cone dystrophy: Novel mutations, a review of published variants, and genotype–phenotype correlation

✍ Isabelle Audo; Saddek Mohand-Saïd; Claire-Marie Dhaenens; Aurore Germain; Elise 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 196 KB

Rod-cone dystrophies (retinitis pigmentosa [RP]) are a clinically and genetically heterogeneous group of inherited retinal disorders characterized by photoreceptor degeneration. RP1 is a major gene underlying autosomal dominant (ad) RP, though prevalence figures vary depending on the origin of the c