Cutaneous Depigmentation in a Child With Ocular Albinism Type 1: Expanding the Clinical Phenotype

Ocular albinism type 1 (OA1) is an X-linked disorder caused by mutations in the GPR143 gene, leading to ocular features such as nystagmus, foveal hypoplasia, and reduced visual acuity. While GPR143 is involved in melanocyte function, clinically evident skin involvement is rarely reported. We describe a nine-year-old male with OA who presented with extensive, sharply demarcated depigmented patches, stable for over three years, and a confirmed pathogenic GPR143 variant. This case expands the known phenotype of OA1 and highlights the need for further research into the cutaneous effects of GPR143 dysfunction.