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Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency
Abrar K Alsalamah1,2, Arif O Khan1,3
1Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
Molecular Vision
|July 16, 2021
Summary
Alpha-methylacyl-CoA racemase deficiency, a peroxisomal disorder, can cause subtle retinal dysfunction even without visual symptoms. Early detection through retinal imaging and electroretinography is crucial for diagnosis and monitoring treatment effectiveness.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal disorder caused by biallelic mutations in the AMACR gene.
- While pigmentary retinopathy has been reported in some patients, the retinal phenotype remains uncharacterized in others.
Observation:
- This study reports on three siblings diagnosed with AMACR deficiency.
- Despite lacking visual complaints, multimodal retinal imaging and electroretinography revealed subtle retinal dysfunction in all affected siblings.
Findings:
- The identified mutation was AMACR NM_001167595.1: c.877T>C; p.C293R.
- Subtle retinal dysfunction was detected in all three siblings, indicated by specialized imaging and electroretinography.
Implications:
- Retinal dysfunction should be assessed in patients with AMACR deficiency, even if asymptomatic.
- Monitoring retinal function may aid in clinical diagnosis and evaluating responses to dietary interventions.
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