Multimodal imaging in a young male with osteogenesis imperfecta complicated with choroidal neovascularization

To evaluate the role of multimodal imaging in the diagnosis and monitoring of patients with osteogenesis imperfecta complicated with choroidal neovascularization.

A 28-year-old man, diagnosed with osteogenesis imperfecta, was referred 2 months after the appearance of central scotoma and metamorphopsia in the right eye. The patient underwent a complete ophthalmological evaluation including visual acuity examination as well as ophthalmoscopy, spectral-domain optical coherence tomography, optical coherence tomography angiography, fundus autofluorescence imaging, fluorescein angiography and microperimetry. Complete examination revealed macular lacquer crack with subretinal haemorrhage. A further investigation with spectral-domain optical coherence tomography and fluorescein angiography revealed the presence of choroidal neovascularization without clear activity associated to the lacquer crack. After a 1-month follow-up, both visual acuity and retinal sensitivity improved spontaneously.

Collagen deficiency of osteogenesis imperfecta leads to fragility of the Bruch's membrane; tension forces probably act at this level determining ruptures with bleeding and choroidal neovascularization formation. Multimodal imaging and functional evaluation are needed to assess retinal alterations in patients with osteogenesis imperfecta, whereas treatment of choroidal neovascularization should be reserved only for active lesion to prevent evolution and visual acuity decrement.