Eye and rare genetic diseases: Case series and literature review

Abstract

Genetic diseases are generally characterised by a multi visceral pathogenesis. Although orphan, these diseases interest many disciplines due to their clinical expression. Eye is sometimes part of the clinical polymorphism of some rare genetic diseases. Ocular signs are in some cases leading to the diagnosis of these pathologies. This work aimed to identify the records of patients seen for a rare genetic disease in our department. Five cases were selected: Bardt Biedl’s syndrome, Fraser’s syndrome, Leber Plus, Gilles de la Tourette’s syndrome, combination User’s syndrome - Von Recklinghausen's neurofibromatosis. The diagnosis was clinical, except a case of Leber Plus which required a biological analysis to confirm the mutation causing this disease. The ophthalmologist should have a general view of the patient's symptoms in order to diagnose.