{Reference Type}: Case Reports
{Title}: Ocular impairment as the first and only manifestation of Bardet-Biedl syndrome: A case report.
{Author}: Arias-García E;Valls-Ferran I;Gutiérrez-Partida B;Martín-Villaescusa C;Blanco-Calvo N;
{Journal}: Arch Soc Esp Oftalmol (Engl Ed)
{Volume}: 99
{Issue}: 5
{Year}: 2024 May 22
暂无{DOI}: 10.1016/j.oftale.2024.02.003
{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.