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

@article{Abdelkader2018SevereRD,
  title={Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene},
  author={E. Abdelkader and Lama Enani and P. Schatz and L. Safieh},
  journal={Saudi Journal of Ophthalmology},
  year={2018},
  volume={32},
  pages={119 - 125}
}
  • E. Abdelkader, Lama Enani, +1 author L. Safieh
  • Published 2018
  • Medicine
  • Saudi Journal of Ophthalmology
  • 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 (OCT… CONTINUE READING
    3 Citations
    Identification of novel PROM1 mutations responsible for autosomal recessive maculopathy with rod-cone dystrophy
    • 6
    MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype
    • W. Li, Yong Feng, +4 authors Meichao Men
    • Medicine
    • Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
    • 2020

    References

    SHOWING 1-10 OF 26 REFERENCES
    Retinal disease course in Usher syndrome 1B due to MYO7A mutations.
    • 49
    • PDF
    Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis
    • 6
    • PDF
    Myosin7a Deficiency Results in Reduced Retinal Activity Which Is Improved by Gene Therapy
    • 27
    • PDF
    Identification of three novel mutations in the USH1C gene and detection of thirty‐one polymorphisms used for haplotype analysis
    • 39
    Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.
    • 153
    Molecular genetics of Usher syndrome
    • J. Eudy, J. Sumegi
    • Biology, Medicine
    • Cellular and Molecular Life Sciences CMLS
    • 1999
    • 75
    Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.
    • 108