Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

@inproceedings{Parry2009LossOT,
  title={Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice},
  author={David A Parry and Carmel Toomes and Lina Bida and Michael Danciger and Katherine V. Towns and Martin McKibbin and Samuel G. Jacobson and Clare V Logan and Manir Ali and Jacquelyn Bond and Rebecca K. Chance and Steven L Swendeman and Lauren L. Daniele and Kelly Springell and Matthew R. Adams and Colin A. Johnson and Adam P. Booth and Hussain Ali Jafri and Yasmin Rashid and Eyal Banin and Tim Matthias Strom and Debora B Farber and Dror Sharon and Carl P Blobel and Edward N Pugh and Eric A. Pierce and Chris F. Inglehearn},
  booktitle={American journal of human genetics},
  year={2009}
}
Cone-rod dystrophy (CRD) is an inherited progressive retinal dystrophy affecting the function of cone and rod photoreceptors. By autozygosity mapping, we identified null mutations in the ADAM metallopeptidase domain 9 (ADAM9) gene in four consanguineous families with recessively inherited early-onset CRD. We also found reduced photoreceptor responses in… CONTINUE READING