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Bilateral macular hole in a patient with CAPN5-related neovascular inflammatory vitreoretinopathy.

Yong Je ChoiSe Joon WooKwangsic Joo
Published in: Documenta ophthalmologica. Advances in ophthalmology (2023)
In this case, a pathogenic variant of CAPN5 lead to a distinct phenotype of retinitis pigmentosa, posterior uveitis, vitreomacular traction, and macular hole without typical inflammatory neovascularization or tractional membranes. Therefore, the clinical variability of CAPN5-NIV and genetic diagnosis should be considered in cases of atypical retinitis pigmentosa with bilateral macular hole.
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