Findings on Optical Coherence Tomography in Malignant Infantile Osteopetrosis

Malignant infantile osteopetrosis is a rare inherited disorder with neurological complications and a shortened life expectancy. Vision loss is typi-cally attributed to osseous compression of the optic nerves at the level of the optic canal. Fundus imag-ing is reported, as well as the first optical coherence tomography and optical coherence tomography an-giography in this rare condition. Imaging revealed optic nerve pallor, subfoveal ellipsoid zone disrup-tion, and an enlarged foveal avascular zone. These results provide insight regarding other potential mechanisms of vision loss in these patients.