Ocular impairment as the first and only manifestation of Bardet-Biedl syndrome: A case report

Abstract

Bardet-Biedl syndrome is a ciliopathy mainly associated with retinal dystrophy, renal dysfunction, post-axial polydactyly, obesity, cognitive deficit and hypogonadism. The symptoms associated with retinal dystrophy do not usually appear until the first decade of life, so the diagnosis is usually delayed. Ocular involvement may be the initial form of manifestation of this syndrome, it may even be the only one, so it should be taken into account in the differential diagnosis of amblyopia in a child who does not improve despite correct compliance with treatment. A case of low visual acuity in a pediatric patient is presented as an initial manifestation that leads to the diagnosis of Bardet-Biedl Syndrome, and which is also the only symptom that the patient presents to date, despite being a multisystem disease.

Keywords: Ambliopía; Amblyopia; Atrofia macular; Bardet-Biedl syndrome; Ciliopathy; Ciliopatía; Distrofia retiniana; Macular atrophy; Retinal dystrophy; Síndrome de Bardet-Biedl.