Exome Sequencing Identified a Recessive <i>RDH12</i> Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

<div>Representative photographs of the proband (III: 1) and one of normal individuals (II: 2) in the Chinese arRP family. (a) Compared to II: 2, the proband’s fundus photographs showed peripheral pigmentation and retinal vascular attenuation. (b) ERG records showed no detectable rod and cone responses in the proband (left), compared to the normal rod and cone responses in the normal individual (right). (c) Visual field results showed low vision in the proband, compared to the normal vision in the unaffected individual (right).</div>

Journal of Ophthalmology

fig2

Figure 2

Figure 2: Exome Sequencing Identified a Recessive <i>RDH12</i> Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa 

Journal of Ophthalmology

Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

Figure 2