RESUMO
Central retinal artery occlusion (CRAO) is a vascular ophthalmic emergency. Often caused by a sudden interruption of blood flow to the eye, with profound and painless vision loss, resulting in irreversible cell damage. An impacted embolus at the narrowest part of the central retinal artery is the most common cause. Cardioversion is a medical procedure used to restore a normal heart rhythm in individuals with atrial fibrillation (AF). In some cases, cardioversion can lead to thromboembolic complications. If an embolus reaches the central retinal artery, it can block the blood flow to the retina, resulting in CRAO and subsequent vision loss.
RESUMO
PURPOSE: To present a case of a young female patient with asymptomatic retinal dysfunction associated with alpha-methylacyl-CoA (AMACR) racemase deficiency. METHODS: Retrospective analysis of the medical notes of a single patient. Detailed slit-lamp examination was completed by Optos colour fundus photography and enhanced depth imaging optical coherence tomography (EDI-OCT). Genetic testing was conducted to establish the diagnosis, and the patient was also referred to the Department of Neurology for further assessment. RESULTS: 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 AMACR (OMIM 604489; Gene ID 23600) variant NM 014324.6: c.154T>C; p.(Ser52Pro). She had no detectable neurological deficit. CONCLUSION: AMACR deficiency is a rare genetic condition that can potentially contribute to retinal dystrophy through various mechanisms. Additionally, it may lead to a wide spectrum of systemic signs and symptoms. Interestingly, in contrast to other reported studies, our patient was completely asymptomatic, with no evidence of systemic disorders.
