Earlier studies noted that mild cutaneous hypopigmentation, when present, could only be detected through direct comparison with unaffected siblings [2]. More recently, López-Fontanet et al. documented a 22-year-old male with molecularly confirmed OA1 who exhibited well-defined depigmented patches on the elbows and thigh [15]. Thus, despite the central role of GPR143 in melanocyte biology, clinically significant cutaneous involvement in OA1 remains rare and has only been sporadically reported. Here, GPR143 is linked to X-linked recessive ocular albinism.