ArticleOman medical journal2026
Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case Series.
Article in Oman medical journal, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Local accumulation of very long-chain PUFA in plexiform layers associates with retinal dysfunction in a mouse model of peroxisomal ACBD5-deficiency.Cellular and molecular life sciences : CMLS · 2025Article
- The neurological pathology of peroxisomal ACBD5 deficiency - lessons from patients and mouse models.Frontiers in molecular neuroscience · 2025Review
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10 authors.
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Abstract
Acyl-coenzyme A-binding domain-containing protein 5 (ACBD5) is an acyl-CoA-binding peroxisomal membrane protein. Its deficiency impairs peroxisomal beta-oxidation of very long-chain fatty acids and causes an autosomal recessive disorder that manifests as retinal dystrophy and leukodystrophy. We report five Omani patients with ages ranging between 4 and 30 years. First presentation was in infancy with nystagmus and photophobia and progressed to legal blindness by 10 years of age. Electroretinogram confirmed severe cone-rod dystrophy. Motor neuroregression with variable ages of onset and signs of progressive cerebellar ataxia were seen in all patients, whereas cognitive decline was observed in some. Brain MRI revealed diffuse T2 signal abnormality in deep white matter, with involvement of corticospinal tracts. Plasma long chain fatty acid profile showed mild elevation of C26 and C26/22 ratio. Two homozygous variants in
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