Findings on Optical Coherence Tomography in Malignant Infantile Osteopetrosis

Abstract

Malignant infantile osteopetrosis is a rare inherited disorder with neurological complications and a shortened life expectancy. Vision loss is typically attributed to osseous compression of the optic nerves at the level of the optic canal. Fundus imaging is reported, as well as the first optical coherence tomography and optical coherence tomography angiography in this rare condition. Imaging revealed optic nerve pallor, subfoveal ellipsoid zone disruption, and an enlarged foveal avascular zone. These results provide insight regarding other potential mechanisms of vision loss in these patients. [Ophthalmic Surg Lasers Imaging Retina 2022; 53:398-402.].