Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.

@article{Abdelkader2017SevereRD,
  title={Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene.},
  author={Ehab Abdelkader and Lama Enani and Patrik Schatz and Leen Abu Safieh},
  journal={Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society},
  year={2017},
  volume={32 2},
  pages={
          119-125
        }
}
Purpose Usher syndrome is the most common cause of deafness associated with visual loss of a genetic origin. The purpose of this paper is to report very severe phenotypic features of type 1B Usher syndrome in a Saudi family affected by positive homozygous splice site mutation in MYO7A gene. Methods Affected siblings went through detailed history. Complete ophthalmic examination was done. Imaging with colour fundus photography, fundus autofluorescence (AF), and optical coherence tomography… CONTINUE READING