Purpose: To evaluate a case of macular retinoschisis associated with a TJP2 mutation in a young woman affected by a Progressive Familiar Intrahepatic Cholestasis (PFIC) using multimodal imaging.
Methods: Observational case report.
Results: A 35-year-old woman, undergone a liver transplant for PFIC, was referred to Eye Clinic for complete ophthalmological examination and multimodal imaging.