ADA2 Deficiency (DADA2) Presenting with Cilioretinal-Sparing Central Retinal Artery Occlusion and 20/20 Vision in an 11-Year-Old Girl — Homozygous Variant Shared with a Hypertensive Brother

Key finding

A central retinal artery occlusion with perfect Snellen acuity — because the one vessel that feeds the fovea from a different source kept working. The cilioretinal artery, present in a minority of eyes, arises from the posterior ciliary (choroidal) circulation rather than the central retinal artery. When it supplies the papillomacular bundle, a CRAO can leave central acuity intact while destroying the surrounding field. This child's 20/20 acuity was therefore a measurement that looked normal while the retina infarcted around it. Automated perimetry and OCT, not the acuity chart, found the damage. The systemic lesson is the authors' conclusion: ADA2 deficiency should be considered in any child with retinal arterial occlusion, especially with systemic vasculitis, severe hypertension, or an affected sibling. Here all three were present. A timing observation (inferred from the abst

Framework connections: The Immune Priming

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