Severe retinal degeneration in a patient with Canavan disease

Background:Canavan disease is an autosomal recessive, neurodegenerative disorder caused by mutations inASPA, a gene encoding the enzyme aspartoacylase. Patients present with macrocephaly, developmental delay, hypotonia, vision impairment and accumulation ofN-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.

Automated summary

Canavan disease is a neurodegenerative disorder caused by mutations in the ASPA gene. This case report highlights a previously unrecognized feature of Canavan disease, retinal degeneration leading to severe vision loss. The association between Canavan disease and retinal degeneration is further supported by findings from animal models.