Female Carrier of Ocular Albinism Linked to <i>Gpr143</i> Gene
<b>Purpose:</b> To characterize an asymptomatic carrier of ocular albinism without a known family history of visual impairment. <b>Methods:</b> Chart review of the patient's medical records. <b>Results:</b> Genetic testing revealed a deletion of exon 3 in her <i>GPR143</i> gene (LCA5 c.1273 deletion). <b>Conclusions:</b> The patient showed characteristics of heterozygous carrier status for <i>GPR143</i> 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 <i>GPR143</i> deletion. Further studies are needed to examine genetic variants and deletions with ocular albinism type 1.
Authors
- Talia R. Kaden (ORCID: https://orcid.org/0000-0001-6945-7664)
- Isha Cheela (ORCID: https://orcid.org/0000-0003-4535-8914)
- Edward Flynn (ORCID: https://orcid.org/0000-0002-7589-100X)
Institutions
- Northwell Health (US)
- Manhattan Eye, Ear and Throat Hospital (US)
- North Shore Diabetes and Endocrine Associates (US)
- Columbia University (US)
Publication Details
- Journal
- Journal of VitreoRetinal Diseases
- Published
- 2025-10-31
- DOI
- https://doi.org/10.1177/24741264251386389
- Citations
- 1
- Primary Topic
- melanin and skin pigmentation
- Type
- article
- Field-Weighted Citation Impact
- 1.15