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Case Reports
. 2021 Apr;185(4):1236-1241.
doi: 10.1002/ajmg.a.62073. Epub 2021 Jan 11.

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

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Case Reports

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

Michelle Bartlett et al. Am J Med Genet A. 2021 Apr.

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.

Keywords: ACBD5; RDLKD; cone-rod dystrophy; spastic paraplegia; white matter disease.

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References

REFERENCES

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