Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.

@article{Fishman2004NovelMI,
  title={Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.},
  author={Gerald Allen Fishman and Mary Flynn Roberts and Deborah J. Derlacki and Jonna L Grimsby and Hiroyuki Yamamoto and Dror Sharon and Koji M Nishiguchi and T. P. Dryja},
  journal={Archives of ophthalmology},
  year={2004},
  volume={122 1},
  pages={70-5}
}
OBJECTIVE To evaluate the molecular genetic defects associated with retinitis punctata albescens (RPA) in 5 patients from 3 families with this disease. METHODS We examined 3 probands and 2 clinically affected relatives with RPA. Clinical examinations included best-corrected visual acuity, visual field testing, electroretinography, dilated fundus… CONTINUE READING