Severe retinal degeneration in a patient with Canavan disease

Ophthalmic Genet. 2021 Feb;42(1):75-78. doi: 10.1080/13816810.2020.1827441. Epub 2020 Sep 25.


Background: Canavan disease is an autosomal recessive, neurodegenerative disorder caused by mutations in ASPA, a gene encoding the enzyme aspartoacylase. Patients present with macrocephaly, developmental delay, hypotonia, vision impairment and accumulation of N-acetylaspartic acid. Progressive white matter changes occur in the central nervous system. The disorder is often fatal in early childhood, but milder forms exist. Materials and methods: Case report. Results: We present the case of a 31-year-old male with mild/juvenile Canavan disease who had severe vision loss due to a retinal degeneration resembling retinitis pigmentosa. Prior to this case, vision loss in Canavan disease had been attributed to optic atrophy based on fundoscopic evidence of optic nerve pallor. Investigations for an alternative cause for our patient's retinal degeneration were non-revealing. Conclusion: We wonder if retinal degeneration may not have been previously recognized as a feature of Canavan disease. We highlight findings from animal models of Canavan disease to further support the association between Canavan disease and retinal degeneration.

Keywords: ASPA; N-acetylaspartic acid; Canavan disease; electroretinography; retinal degeneration.

Publication types

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

MeSH terms

  • Adult
  • Canavan Disease / complications*
  • Humans
  • Male
  • Prognosis
  • Retinal Degeneration / etiology
  • Retinal Degeneration / pathology*