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Severe retinal degeneration in a patient with Canavan disease


Benson, Matthew D; Plemel, David J A; Freund, Paul R; Lewis, James R; Sass, Jörn Oliver; Bähr, Luzy; Gemperle-Britschgi, Corinne; Ferreira, Patrick; MacDonald, Ian M (2021). Severe retinal degeneration in a patient with Canavan disease. Ophthalmic Genetics, 42(1):75-78.

Abstract

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.

Abstract

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Health Sciences > Pediatrics, Perinatology and Child Health
Health Sciences > Ophthalmology
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics(clinical), Pediatrics, Perinatology, and Child Health, Ophthalmology
Language:English
Date:2 January 2021
Deposited On:21 Jan 2021 12:15
Last Modified:22 Jan 2021 21:01
Publisher:Informa Healthcare
ISSN:1381-6810
OA Status:Closed
Publisher DOI:https://doi.org/10.1080/13816810.2020.1827441
PubMed ID:32975148

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