Asymptomatic retinal dysfunction and retinal abnormalities in a patient with alpha-methylacyl-CoA racemase deficiency

Purpose: <br/>The aim of this study was to present a case of a young female patient with asymptomatic retinal dysfunction associated with alpha-methylacyl-CoA (alpha-methylacyl-CoA racemase) racemase deficiency.<br/><br/>Methods: <br/>This was a retrospective analysis of the medical notes of a single patient. Detailed slit-lamp examination was completed by Optos color fundus photography and enhanced depth imaging optical coherence tomography. Genetic testing was conducted to establish the diagnosis, and the patient was also referred to the Department of Neurology for further assessment.<br/><br/>Results: <br/>Dilated fundoscopy and ophthalmic imaging revealed bilateral retinal pigment epithelium abnormalities that could be associated with a genetic retinal disorder. Indeed, genetic testing showed that this lady was homozygous for alpha-methylacyl-CoA racemase (OMIM 604489; Gene ID 23600) variant NM 014324.6: c.154T&gt;C; p.(Ser52Pro). She had no detectable neurological deficit.<br/><br/>Conclusion: <br/>Alpha-methylacyl-CoA racemase deficiency is a rare genetic condition that can potentially contribute to retinal dystrophy through various mechanisms. In addition, it may lead to a wide spectrum of systemic signs and symptoms. Interestingly, in contrast to other reported studies, the patient was completely asymptomatic, with no evidence of systemic disorders.