Bilateral, geographic, peripapillary, chorioretinal atrophy in a patient with porphyria cutanea tarda and high iron stores

Purpose

Porphyria cutanea tarda (PCT) is a systemic disease caused by a deficiency of the enzyme uroporphyrinogen decarboxylase, which is the fifth enzyme in the heme biosynthetic pathway. This deficiency prevents porphyrin and its byproducts from producing heme.

Case Report

This case report presents a patient with PCT that is further complicated by high iron stores, chronic hepatitis C virus (HCV), and a history of alcoholism. Bilateral, geographic, peripapillary chorioretinal atrophy is evident and shows progression over a significant period despite improving the PCT.

Conclusion

A bilateral and progressive appearance of a retinal pathology in a middle-age male patient, with no family ocular history, suggests systemic causation. One theory includes a back flow of porphyrin byproducts from PCT. This is exacerbated by a less-than-productive liver caused by high iron stores, chronic HCV, and a history of alcoholism, which prevents the normal filtering process to occur. We believe this is the first report of a case of presumed bilateral, geographic, peripapillary chorioretinal atrophy in a patient with PCT, complicated by high iron stores, HCV, and alcoholism.