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.

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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
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article

Female Carrier of Ocular Albinism Linked to Gpr143 Gene

Talia R. Kaden, Isha Cheela, Edward Flynn
1 citations
Journal of VitreoRetinal Diseases
melanin and skin pigmentation
1.15
article

Female Carrier of Ocular Albinism Linked to Gpr143 Gene

Talia R. Kaden, Isha Cheela, Edward Flynn
article en
1 citations

Abstract

<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.

Journal of VitreoRetinal DiseasesVol. 10(1)
Northwell Health (US), Manhattan Eye, Ear and Throat Hospital (US), North Shore Diabetes and Endocrine Associates (US), Columbia University (US)
Openalex Percentile: Top 18%
melanin and skin pigmentation
1.15
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