Vision-Related Challenges in Jansen’s Disease

We are delighted to share a significant new study that expands our understanding of how Jansen’s metaphyseal chondrodysplasia (JMC) affects vision and the structure of the eye. In the article titled “Ocular findings in Jansen metaphyseal chondrodysplasia”, researchers, Dr. Smitha Jha, Dr. Alison Boyce, and others at NIH, present the first comprehensive characterization of eye-related abnormalities in individuals with JMC.

Published in JBMR Plus in 2024, this study reveals that patients often develop optic neuropathy due to optic canal narrowing from progressive skull base overgrowth, particularly as they age. Critically, the research found that optical coherence tomography (OCT), especially analysis of the ganglion cell layer (GCA), can detect early and subtle signs of optic nerve damage before noticeable vision loss occurs

Find the full publication here: Ocular findings in Jansen metaphyseal chondrodysplasia