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New research · Ophthalmology
Orbit (Amsterdam, Netherlands) · 13h
Case reportOrbit (Amsterdam, Netherlands) · 2026

Camurati-Engelmann disease with bilateral proptosis and optic neuropathy: a case report and literature review.

Chaoyu Lei, Zhiyu He, Yuan Liang … Huifang Zhou
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OphthalmologyCase report

Retinal nerve fiber layer thinned to 66 μm bilaterally one year after diagnosis

Camurati-Engelmann disease with bilateral proptosis and optic neuropathy: a case report and literature review.

Chaoyu Lei … Huifang Zhou
Orbit (Amsterdam, Netherlands) · 2026
Background

Camurati-Engelmann disease (Camurati-Engelmann disease) is a rare autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene and is characterized by progressive diaphyseal widening and cortical thickening of long bones.

Results
66 μm
Mean nerve fiber layer thickness in both eyes at one-year follow-up, with mild visual field decline.
More results

A 29-year-old woman presented with bilateral proptosis, hypothyroidism and a 15-year history of hearing loss and limb pain.

Superior visual field defects were detected on automated perimetry.

Imaging revealed systemic skeletal abnormalities, including macrocephaly, mandibular overgrowth, and cortical thickening of multiple bones.

More results

Genetic testing confirmed a pathogenic TGFB1 mutation, establishing the diagnosis of Camurati-Engelmann disease.

“
Conclusion

This case highlights the potential for orbital involvement and compressive optic neuropathy in Camurati-Engelmann disease and underscores the importance of multidisciplinary management and regular ophthalmologic monitoring.

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