Alagille syndrome and optic pit

Background Optic disc anomalies are frequently associated with Alagille syndrome. We report here the first case of a patient with Alagille syndrome combined with optic pit and serous macular detachment. Methods A male patient with Alagille syndrome was referred from the pediatric hepatology department for investigation of visual loss in the right eye. Anterior segment examination showed evidence of posterior embryotoxon, confirmed by gonioscopic evaluation. Dilated fundus examination revealed serous macular detachment and optic pit. Results OCT 3 scans confirmed the clinical findings. Conclusions Optic pit is uncommon and should prompt a search for genetic disorders or development abnormalities. The association between the two syndromes in this patient might be due to failure of correct neuroectodermal development, for which a common genetic pathway is likely.