{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T17:13:47Z","timestamp":1786122827623,"version":"build-2736575974"},"reference-count":25,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>To characterize the structural, functional, and optical coherence tomography angigraphy (OCTA) phenotype associated with the OPA1 c3011T&gt;C (p.Leu1004Pro) variant in a multigenerational family with autosomal dominant optic atrophy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>In this retrospective familial case series, four affected female relatives across three generations underwent ophthalmic examination including best-corrected visual acuity (BCVA), peripapillary retinal nerve fiber layer (RNFL) and macular ganglion cell complex (GCC) imaging, Humphrey 24-2 visual fields, and 6 mm \u00d7 6 mm swept-source OCTA (SS-OCTA). Quantitative OCTA assessed parafoveal vessel density in the superficial capillary plexus (SCP). Next-generation sequencing in the index case and intrafamilial Sanger sequencing confirmed segregation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>All subjects carried the heterozygous OPA1 c.3011T&gt;C variant and showed a consistent optic neuropathy pattern with temporal disc pallor, selective temporal RNFL thinning, and macular GCC loss on a preserved outer retina without microcystic changes. BCVA ranged from 0.22 to 0.82 logMAR, indicating marked intrafamilial functional variability. Visual fields demonstrated central\/centrocecal or paracentral defects with relative peripheral sparing, with more extensive central depression in the oldest case. On exploratory 6 mm \u00d7 6 mm SS-OCTA, parafoveal SCP vessel density values showed intercase variation without frank macular nonperfusion; findings are interpreted descriptively in the absence of device and age-matched internal controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>The OPA1 p.Leu1004Pro variant was associated with a stereotyped structural optic neuropathy pattern, whereas functional impairment showed marked intrafamilial variability. Exploratory SCP OCTA findings are descriptive only, given the absence of device and age-matched internal controls.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/joco.joco_4_26","type":"journal-article","created":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T14:41:51Z","timestamp":1786027311000},"page":"79-86","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Genotype\u2013Phenotype Correlation in Dominant Optic Atrophy due to OPA1 c.3011T&gt;C (p.Leu1004Pro): A Family-Based Case Series"],"prefix":"10.4103","volume":"38","author":[{"given":"Hasan Can","family":"K\u00fc\u00e7\u00fck","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, U\u015fak Training and Research Hospital, U\u015fak, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nil\u00fcfer","family":"Ko\u00e7ak","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Dokuz 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