Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.

@article{Dessalces2013EarlyonsetFI,
  title={Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.},
  author={Elodie Dessalces and B{\'e}atrice Bocquet and J{\'e}r{\^o}me Bourien and Xavier Zanlonghi and Robert Verdet and Isabelle Meunier and Christian P. Hamel},
  journal={JAMA ophthalmology},
  year={2013},
  volume={131 10},
  pages={1314-23}
}
IMPORTANCE Retinitis punctata albescens (RPA) is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike deposits in the fundus, in most cases caused by mutations in RLBP1. OBJECTIVE To study disease progression and visual function in RPA. DESIGN We performed clinical and molecular investigations in patients with RPA at various ages, from November 5, 2003, through June 20, 2012, with no planned patient follow-up. SETTING The National Reference Center for Genetic… CONTINUE READING

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