An unusual association of macular retinoschisis with progressive familiar intrahepatic cholestasis: A multimodal imaging study

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. Fundus examination showed no significant alterations in both eyes while multicolor image revealed the presence of several cystes in macular region. The autofluorescence image highlighted small areas of iperautofluorescence in macular region. En-face image showed a "coral shape pattern" and structural optical coherence tomography (OCT) revealed foveal hyporeflective cystic spaces in outer and inner nuclear layers, areas of splitting within the nerve fiber layer (schisis areas) and an initial preretinal fibrosis. Lastly, OCT-angiography (OCT-A) demonstrated small perifoveal teleangectasias and slight reduction of the foveal avascular zone area. Conclusion Multimodal imaging could help to highlight the presence of a rare retinal disorder associated with a gene related systemic disease.