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Cutaneous Depigmentation in a Child With Ocular Albinism Type 1: Expanding the Clinical Phenotype
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Cutaneous Depigmentation in a Child With Ocular Albinism Type 1: Expanding the Clinical Phenotype
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Journal Article
Cutaneous Depigmentation in a Child With Ocular Albinism Type 1: Expanding the Clinical Phenotype
2025
Overview
Ocular albinism type 1 (OA1) is an X-linked disorder caused by mutations in the
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
variant. This case expands the known phenotype of OA1 and highlights the need for further research into the cutaneous effects of GPR143 dysfunction.
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