Retinitus pigmentosa

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Retinitus Pigementosa is a hereditary genetic disorder caused by a mutation in the Rhodopsin gene and can result in blindness if such mutation occurs, this disorder can be either autosomal recessive, autosomal dominant or x-linked[1]. The mutation to cause this disorder in some patients is a result of a single nucleotide change from C-G resulting in an amino acid change from ACG (Threonine) to AGG (Arginine), This mutation occurs in codon 58 of the gene and is one of three recognised mutations to potentially cause the disorder[2].

References

  1. Dyonne T Hartong, MDa, Prof Eliot L Berson, MDb, Prof Thaddeus P Dryja, MD, Retinitus Pigmentosa, The Lancet (2006) 368(9549):1795–1809
  2. Thaddeus P. Dryja, M.D., Terri L. McGee, B.A., Lauri B. Hahn, M.S., Glenn S. Cowley, B.S., Jane E. Olsson, Ph.D., Elias Reichel, M.D., Michael A. Sandberg, Ph.D., and Eliot L. Berson, M.D., Mutations within the Rhodopsin Gene in Patients with Autosomal Dominant Retinitis Pigmentosa, The New England Journal of Medicine, (1990) 323:1302-1307
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