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

Riccardo Francesco Bellanca, Fabio Scarinci, Mariacristina Parravano

Research output: Contribution to journalArticle

Abstract

Purpose: To evaluate the role of multimodal imaging in the diagnosis and monitoring of patients with osteogenesis imperfecta complicated with choroidal neovascularization. Case report: 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. Conclusion: 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.

Original languageEnglish
JournalEuropean Journal of Ophthalmology
DOIs
Publication statusE-pub ahead of print - Nov 8 2018

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Multimodal Imaging
Osteogenesis Imperfecta
Choroidal Neovascularization
Optical Coherence Tomography
Lacquer
Visual Acuity
Fluorescein Angiography
Bruch Membrane
Hemorrhage
Scotoma
Ophthalmoscopy
Optical Imaging
Vision Disorders
Physiologic Monitoring
Rupture
Angiography
Collagen

Keywords

  • blue sclera
  • choroidal neovascularization
  • lacquer crack
  • Osteogenesis imperfecta
  • subretinal haemorrhage

ASJC Scopus subject areas

  • Ophthalmology

Cite this

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title = "Multimodal imaging in a young male with osteogenesis imperfecta complicated with choroidal neovascularization",
abstract = "Purpose: To evaluate the role of multimodal imaging in the diagnosis and monitoring of patients with osteogenesis imperfecta complicated with choroidal neovascularization. Case report: 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. Conclusion: 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.",
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