Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

J Neurol. 2016 Apr;263(4):781-3. doi: 10.1007/s00415-016-8066-7. Epub 2016 Feb 25.


SPG56 is an autosomal recessive form of hereditary spastic paraplegia (HSP) associated with mutations in CYP2U1. There is no clear documentation of visual impairment in the few reported cases of SPG56, although this form is complex on clinical ground and visual deficit are extremely frequent in complicated HSP. We report three patients in a consanguineous family harboring the novel homozygous c.1168C>T (p.R390*) in SPG56/CYP2U1, and showing a pigmentary degenerative maculopathy associated with progressive spastic paraplegia. Furthermore, we characterized precisely the ophthalmologic phenotype through indirect ophthalmoscopy, retinal optical coherence tomography and visual evoked potentials. This is the first formal report of pigmentary degenerative maculopathy associated with a CYP2U1 homozygous mutation.

Keywords: CYP2U1; HSPs; Pigmentary degenerative maculopathy; SPG56.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cytochrome P450 Family 2 / genetics*
  • Evoked Potentials, Visual
  • Female
  • Humans
  • Italy
  • Macular Degeneration / genetics*
  • Male
  • Middle Aged
  • Ophthalmoscopy
  • Pedigree
  • Phenotype
  • Point Mutation
  • Spastic Paraplegia, Hereditary / complications*
  • Spastic Paraplegia, Hereditary / genetics
  • Tomography, Optical Coherence


  • CYP2U1 protein, human
  • Cytochrome P450 Family 2