SPOAN syndrome: a novel mutation and new ocular findings; a case report

BMC Neurol. 2021 Jan 15;21(1):24. doi: 10.1186/s12883-021-02051-9.

Abstract

Background: To report a novel mutation and new clinical findings in a case with SPOAN syndrome (spastic paraplegia, optic atrophy, neuropathy).

Case presentation: Clinical examination, genetic testing and electroretinography were used to study a 2-year-old child who was referred to our clinic with no visual attention and documented SPOAN syndrome. Fundoscopy revealed optic atrophy, diffuse retinal pigment mottling, severe vascular attenuation, and completely non-vascularized peripheral retina in both eyes. Full-field electroretinogram (ERG) revealed flat responses.

Conclusions: Severe retinopathy and flat full-field ERG responses can occur in SPOAN syndrome.

Keywords: Electroretinography; Retinopathy; SPOAN syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Hereditary Sensory and Motor Neuropathy / genetics*
  • Humans
  • Kinesins
  • Male
  • Microtubule-Associated Proteins / genetics*
  • Mutation
  • Optic Atrophy / genetics*
  • Paraplegia / genetics*
  • Retinal Diseases / genetics*
  • Syndrome

Substances

  • Microtubule-Associated Proteins
  • Kinesins

Supplementary concepts

  • Spastic Paraplegia, Optic Atrophy, and Neuropathy