First reported adult patient with retinal dystrophy and leukodystrophy caused by a novel ACBD5 variant: A case report and review of literature

Michelle Bartlett, Nima Nasiri, Rena Pressman, Guney Bademci, Irman Forghani

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

Peroxisomes play an essential role in lipid metabolism via interaction with other intracellular organelles. The information about the role of the Acyl-CoA-binding domain containing-protein 5 (ACBD5) in these interactions in human cells is emerging. Moreover, a few patients with retinal dystrophy and leukodystrophy caused by pathogenic variants in ACBD5 have been recently introduced. Here, we present a 36-year-old female with retinal dystrophy, leukodystrophy, and psychomotor regression due to a novel homozygous variant in ACBD5. Our study adds to the growing knowledge of this peroxisomal disorder by providing phenotypic details of the first adult patient.

Original languageEnglish (US)
Pages (from-to)1236-1241
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume185
Issue number4
DOIs
StatePublished - Apr 2021

Keywords

  • ACBD5
  • cone-rod dystrophy
  • RDLKD
  • spastic paraplegia
  • white matter disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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