Rieger anomaly with bilateral choroidal osteoma: coincidence or association?

Objective: To report a case of Rieger anomaly associated with bilateral choroidal osteoma.

Methods: An 18-year-old woman presented with corectopia, iridocorneal adhesions, and stromal hypoplasia of the iris, and was diagnosed with Rieger anomaly.

Results: Fundus examination revealed bilateral yellowish-orange, placoid degenerative fundus lesions with pseudopod-like edges associated with the areas of retinal pigment epithelium atrophy, indicating choroidal osteoma. Fundus fluorescein angiography showed bilateral early patchy and late diffuse hyperfluorescence. B-scan echography revealed placoid lesion at the posterior ocular coats characterized by localized areas of high ultrasound reflectivity with a corresponding retrobulbar orbital shadowing. This indicated a dense calcium foreign body. In addition, computed tomography of the orbit demonstrated bilateral plate-like thickening with calcification of the choroid that was isodense with the normal skeletal bone.

Conclusions: Although Rieger anomaly is classically known as a disease of the anterior segment of the eye, choroidal osteoma may be a posterior segment finding of the disease that has not previously been reported.