{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:05:13Z","timestamp":1790697913942,"version":"4.1.0"},"reference-count":17,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T00:00:00Z","timestamp":1761868800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of VitreoRetinal Diseases"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    <jats:bold>Purpose:<\/jats:bold>\n                    To characterize an asymptomatic carrier of ocular albinism without a known family history of visual impairment.\n                    <jats:bold>Methods:<\/jats:bold>\n                    Chart review of the patient\u2019s medical records.\n                    <jats:bold>Results:<\/jats:bold>\n                    Genetic testing revealed a deletion of exon 3 in her\n                    <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                    gene (LCA5 c.1273 deletion).\n                    <jats:bold>Conclusions:<\/jats:bold>\n                    The patient showed characteristics of heterozygous carrier status for\n                    <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                    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\n                    <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                    deletion. Further studies are needed to examine genetic variants and deletions with ocular albinism type 1.\n                  <\/jats:p>","DOI":"10.1177\/24741264251386389","type":"journal-article","created":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T11:46:06Z","timestamp":1761911166000},"page":"153-156","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Female Carrier of Ocular Albinism Linked to\n                    <i>Gpr143<\/i>\n                    Gene"],"prefix":"10.1177","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7589-100X","authenticated-orcid":false,"given":"Erin","family":"Flynn","sequence":"first","affiliation":[{"name":"Northwell, New Hyde Park, NY, USA"},{"name":"Department of Ophthalmology, Manhattan Eye, Ear and Throat Hospital, New York, NY, USA"},{"name":"Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, New York, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4535-8914","authenticated-orcid":false,"given":"Isha","family":"Cheela","sequence":"additional","affiliation":[{"name":"Northwell, New Hyde Park, NY, USA"},{"name":"Department of Ophthalmology, Manhattan Eye, Ear and Throat Hospital, New York, NY, USA"},{"name":"Northwell Health Eye Institute, Great Neck, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6945-7664","authenticated-orcid":false,"given":"Talia R.","family":"Kaden","sequence":"additional","affiliation":[{"name":"Northwell, New Hyde Park, NY, USA"},{"name":"Department of Ophthalmology, Manhattan Eye, Ear and Throat Hospital, New York, NY, USA"},{"name":"Northwell Health Eye Institute, Great Neck, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,10,31]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(85)90077-3"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00421.x"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/12715"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1006\/exer.2000.0962"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2018.08.003"},{"key":"e_1_3_2_7_2","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Lewis RA","unstructured":"Lewis RA. Ocular albinism, X-linked. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews\u00ae. 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