Female Carrier of Ocular Albinism Linked to Gpr143 Gene.

Purpose: To characterize an asymptomatic carrier of ocular albinism without a known family history of visual impairment. Methods: Chart review of the patient's medical records. Results: Genetic testing revealed a deletion of exon 3 in her GPR143 gene (LCA5 c.1273 deletion). Conclusions: The patient showed characteristics of heterozygous carrier status for GPR143 alterations, including linear pigmentary changes in the fundus. This case is notable for the absence of a known family history of visual impairment and may represent a sporadic GPR143 deletion. Further studies are needed to examine genetic variants and deletions with ocular albinism type 1.