Axenfeld-rieger syndrome: neurological signs and phenotypic variability (clinical observation)

Abstract

The article provides information about the phenotypic variability of Axenfeld-Rieger syndrome in a patient with confirmed neurological symptoms. The study aimed to characterize phenotypic variability and neurologic symptoms in a patient with genetically verified Axenfeld-Rieger syndrome. This paper presents a clinical case of Axenfeld-Rieger syndrome in a 45-year-old female patient with a mild clinical course. A neurologic examination was performed, and functional diagnostic methods were used. The reported clinical case demonstrates the matching of the patient's clinical presentation with the present-day described symptoms of Axenfeld-Rieger syndrome. The results of the molecular genetic study with the finding of a pathogenic mutation in the FOXC1 gene are definitive evidence of this syndrome. Diagnostic search in genetically caused diseases is often challenging, as polymorphic symptoms present in patients do not always allow for a definite diagnosis of a given pathology. Early diagnosis and effective therapy of genetic diseases are the key to saving the quality of life of patients.