Progressive Familial Intrahepatic Cholestasis Type 1 Associated with Cherry-Red Spots in an Infant: A First Case Report.

Progressive familial intrahepatic cholestasis type 1 (PFIC1) associated with a cherry-red spot, to our knowledge, has never been reported in the literature. We report the case of a 10­month­old girl with prolonged cholestasis. A diagnosis of PFIC1 was made by whole­exome sequencing. Fundus examination showed a cherry-red spot. Our case provides a new insight toward the first case of ocular manifestation of PFIC1. Further studies are required to elucidate FIC1 gene expression in the macula.