An Unusual Case of Congenital Hepatic Fibrosis with Retinitis Pigmentosa

Congenital hepatic fibrosis (CHF) is a rare hereditary autosomal recessive disorder due to periportal fibrosis and ductal plate malformation. It is just one of many different malformations collectively named oculo-encephalo-hepato-renal syndrome. The major presenting feature is upper gastrointestinal bleeding due to portal hypertension secondary to the development of esophageal varices. Herein we report a case of CHF with retinitis pigmentosa but lacking the distinctive multisystem malformations associated with other well-known syndromes associated with CHF. In cases of CHF, search for other organ involvement is important at the time of presentation as well as during follow-up.