Targeted Next Generation Sequencing Identifies Novel Mutations in <i>RP1</i> as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy

<div>Ophthalmic features of family F752: II.1 (CIC01245): fundus color photographs ((a) and (d) for right and left eye resp.), autofluorescence ((b) and (e) for right and left eye resp.), and spectral domain optical coherence tomography horizontal macula scans ((c) and (f) for right and left eye resp.), showing severe rod-cone dystrophy signs with macular involvement.</div>

BioMed Research International

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Figure 1

Figure 1: Targeted Next Generation Sequencing Identifies Novel Mutations in <i>RP1</i> as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy 

Figure 1 | Targeted Next Generation Sequencing Identifies Novel Mutations in RP1 as a Relatively Common Cause of Autosomal Recessive Rod-Cone Dystrophy 