Posterior column ataxia-retinitis pigmentosa syndrome

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Posterior column ataxia-retinitis pigmentosa syndrome (PCARP) is an autosomal recessive genetic disorder of the human eye, attributed to mutation of a gene originally dubbed AXPC1 which was identified as a mutation in the FLCVR1 gene. [1] [2] Generally rare, a Pennsylvania Mennonite variant has been estimated to have a population allele prevalence close to 1% due to founder effects. [3]

Clinical phenotype

The syndrome was described having childhood-onset symptoms with sensory neuropathy characterized by proprioceptive loss with retinitis pigmentosa presenting with concentric visual field loss. By adulthood patients were blind with ataxia. [4]

References

  1. ↑ Berciano J, Polo JM (December 1998). "Autosomal recessive posterior column ataxia and retinitis pigmentosa". Neurology. 51 (6): 1772–3. doi:10.1212/wnl.51.6.1772-a. PMID   9855554. S2CID   46553303.
  2. ↑ Rajadhyaksha AM, Elemento O, Puffenberger EG, Schierberl KC, Xiang JZ, Putorti ML, Berciano J, Poulin C, Brais B, Michaelides M, Weleber RG, Higgins JJ (November 2010). "Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa". American Journal of Human Genetics. 87 (5): 643–54. doi:10.1016/j.ajhg.2010.10.013. PMC   2978959 . PMID   21070897.
  3. ↑ "Online Mendelian Inheritance in Man:FLCVR1". omim.org.
  4. ↑ Higgins JJ, Morton DH, Patronas N, Nee LE (December 1997). "An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa". Neurology. 49 (6): 1717–20. doi:10.1212/wnl.49.6.1717. PMID   9409377. S2CID   20619175.
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