Purpose: To report novel multimodal imaging features and long-term follow-up of Orthodenticle Homeobox 2 (OTX2)-associated pattern Gdystrophy.
Methods: A 14-year-old boy referred with glaucoma suspect and macular pigmentation underwent fundus autofluorescence imaging, optical coherence tomography, fluorescein and indocyanine green angiography, visual field test, microperimetry and electrophysiology over a ten-year period. Next-generation sequencing panel identified a de novo heterozygous likely pathogenic OTX2 variant, c.
An Asian man in his 20s developed asymptomatic ipsilateral moyamoya-like vascular changes following orbital and head trauma. An ipsilateral traumatic optic neuropathy with extensive optic cupping ensued. The complex embryology of the ocular vascular development is reviewed as having a potential causative role in the intracranial carotid vasculopathy.
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