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.