Work

ACBD5 ‐related retinal dystrophy with leukodystrophy due to novel mutations in ACBD5 and with additional features including ovarian insufficiency

Year: 2023

Type: article

Abstract: Acyl-CoA-binding domain-containing protein 5-related retinal dystrophy with leukodystrophy (ACBD5) is a peroxisomal disorder due to deficiency of ACBD5. Presenting features include retinal dystrophy, progressive leukodystrophy, and ataxia. Only seven cases of ACBD5-related retinal dystrophy have been reported in the literature to date, including one other case diagnosed in adulthood. Here we report a case with novel compound heterozygous ACBD5 mutations, presenting with the common features of rod monochromatism and progressive leukodystrophy with spasticity and ataxia. Additional novel clinical features included head and neck tremor and ovarian insufficiency. The patient's symptoms were present since infancy, but a diagnosis was only reached in adulthood when whole exome sequencing was performed. This case, which reports two novel mutations and additional clinical manifestations, contributes to the emerging phenotype of ACBD5-related retinal dystrophy with leukodystrophy, and delineation of the natural history and disease progression.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.63433

Authors: Laura Ivete Rudaks, James Triplett, Katrina Morris, Stephen Reddel, Lisa Worgan

Institutions: The University of Sydney, Royal North Shore Hospital, Concord Repatriation General Hospital, Royal Prince Alfred Hospital

Language: English

Topic: Retinal Development and Disorders

Subfield: Ophthalmology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,200