Novel PPOX Mutation With Ocular Involvement in Variegate Porphyria: Case Report and Literature Review.

PURPOSE: To report the clinical and histopathologic features of cicatrizing conjunctivitis associated with variegate porphyria (VP).

METHODS

A comprehensive literature search was performed in PubMed and Google Scholar through September 2025 using terms related to porphyria and ocular involvement. All relevant case reports, series, reviews, original articles, and cited references were included.

RESULTS

A 52-year-old woman with a history of seizures, dorsal hand skin lesions, and lower-extremity paresthesia presented with cicatrizing conjunctivitis and corneal opacification with neovascularization. A systemic evaluation demonstrated elevated urinary and fecal porphyrins. Molecular analysis revealed a novel heterozygous 3.49-Mb deletion encompassing the entire protoporphyrinogen oxidase gene. Conjunctival histopathology revealed subepithelial bullae with acanthotic epithelium, and direct immunofluorescence was negative for immune complex deposition.

CONCLUSIONS

Ocular manifestations in porphyria are rare and have primarily been described in porphyria cutanea tarda and congenital erythropoietic porphyria. A review of the English language literature summarizing reported cases of porphyria-associated cicatrizing conjunctivitis is presented. This report broadens the differential diagnosis of cicatrizing conjunctivitis to include VP.