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.