Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.

@article{Duncan2012IdentificationOA,
  title={Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.},
  author={Jacque L Duncan and Austin Roorda and Mili Navani and Sangeetha Vishweswaraiah and Reema Syed and Shiri Soudry and Kavitha Ratnam and Harini V. Gudiseva and Pauline Lee and Terry Gaasterland and Radha Ayyagari},
  journal={Archives of ophthalmology},
  year={2012},
  volume={130 10},
  pages={1301-8}
}
OBJECTIVES To describe the clinical phenotype and identify the molecular basis of disease in a consanguineous family of Palestinian origin with autosomal recessive retinal degeneration. METHODS Eight family members were evaluated with visual acuity and perimetry tests, color fundus photographs, full-field electroretinography, and optical coherence tomography. Cone photoreceptors surrounding the fovea were imaged in 2 members, using adaptive optics scanning laser ophthalmoscopy. Exome was… CONTINUE READING