Ocular Manifestations of X-linked Chronic Granulomatous Disease: About Two Atypical Case Reports

Two atypical cases of ocular localizations of chronic granulomatous disease are reported.

The first case is about a 22-year-old woman carrier of the disease who developed active intraocular inflammation and choroidal granulomas successfully treated by steroids. The second is about a 2-year-old boy consulting for unilateral anterior uveitis and subsequent anterior chamber granuloma development as first signs of the disease.

X-linked chronic granulomatous disease is a rare inherited primary immunodeficiency syndrome characterized by disorders of phagocytic cells resulting in recurrent infections and development of granulomas. Ophthalmological manifestations are not rare and are mainly represented by surface and intraocular inflammation with possible choroidal granulomas. The two cases reported here are atypical, one of active inflammation in a carrier and the other revealing the disease.

Ophthalmologists must be aware of chronic granulomatous disease and the possible ocular involvement of this disorder.