The causal mutation in ARR3 gene for high myopia and progressive color vision defect

Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age < 7 years old) high myopia (<-6D). Here, we reveal a new mutation (c.228T>A, p.Tyr76*) in ARR3 gene that can cause early-onset high myopia (eoHM) limited in female carriers, and protan/deutan color vision defect affecting both genders.

Using ten years of clinical follow-up data, we identified gradually worsen cone dysfunction/color vision as a key feature among affected individuals. We present a hypothesis of unbalanced color-vision signal output that had lowered blue color contribution from cone cells could potentially explain the etiology of this disease.