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Clinical report highlights optic nerve hypoplasia in a novel chromosomal rearrangement, suggesting variability in ocular abnormalities.
We describe macular and optic nerve hypoplasia in a patient with a novel chromosomal rearrangement resulting in 2p partial trisomy and provide an overview of 17 previously reported cases presenting ocular abnormalities. A broad variability of ophthalmological phenotypes has been observed, further expanded by the current report.
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Roomets et al. (2025) studied this question.
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