title: Visual loss as the presenting sign of Jeune syndrome.
abstract: We describe a 5-year-old girl with Jeune syndrome. The presenting symptoms included visual loss and night blindness only. In the neonatal period she had surgery on both hands for bilateral polydactyly. Following clinical and radiological examination a diagnosis of Jeune syndrome was proposed. Although Jeune syndrome is often characterized by multiple organ abnormalities, our patient presented with ocular symptoms at the age of 5 years.
authors.affiliation: Department of Ophthalmology, St-Rafael University Hospitals, Capucijnenvoer, Belgium. Ingele.Casteels@uz.kuleuven.ac.be
authors.forename: I
authors.initials: I
authors.lastname: Casteels
authors.forename: E
authors.initials: E
authors.lastname: Demandt
authors.forename: E
authors.initials: E
authors.lastname: Legius
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004596:Electroretinography; D005260:Female; D006801:Humans; D009755:Night Blindness / Q000209:etiology*; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D017689:Polydactyly / Q000209:etiology*; D012160:Retina / Q000002:abnormalities* / Q000503:physiopathology; D013577:Syndrome; D013909:Thorax / Q000002:abnormalities*; D014792:Visual Acuity; D014794:Visual Fields