{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T05:39:16Z","timestamp":1778305156394,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2015,9,19]],"date-time":"2015-09-19T00:00:00Z","timestamp":1442620800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008273","name":"\u00d8jenfonden","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100008273","id-type":"DOI","asserted-by":"crossref"}]},{"name":"\u00d8jenforeningen"},{"name":"Synoptikfonden"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2015,12]]},"abstract":"Abstract<\/jats:title>Purpose<\/jats:title>To describe the thickness of the combined ganglion cell and inner plexiform layers (GC<\/jats:styled-content>\u2010IPL<\/jats:styled-content>) and the peripapillary retinal nerve fibre layer (RNFL<\/jats:styled-content>) in patients with OPA<\/jats:styled-content>1<\/jats:italic> c.983A>G or c.2708_2711delTTAG<\/jats:styled-content> autosomal\u2010dominant optic atrophy (ADOA<\/jats:styled-content>).<\/jats:p><\/jats:sec>Methods<\/jats:title>The study included 20 individuals with c.983A>G and nine individuals with c.2708_2711delTTAG<\/jats:styled-content>. Data for comparison were drawn from 49, previously published, individuals with OPA<\/jats:styled-content>1<\/jats:italic> c.2826_2836delinsGGATGCTCCA<\/jats:styled-content> and 51 individuals with no OPA<\/jats:styled-content>1<\/jats:italic> mutation. Subjects underwent refraction, best\u2010corrected visual acuity assessment, axial length measurement and high\u2010definition optical coherence tomography.<\/jats:p><\/jats:sec>Results<\/jats:title>There was overlap in GC<\/jats:styled-content>\u2010IPL<\/jats:styled-content> thickness in subjects younger than 20\u201330\u00a0years between the two new groups of ADOA<\/jats:styled-content> patients and controls. Numerical decreases in GC<\/jats:styled-content>\u2010IPL<\/jats:styled-content> thickness with age did not reach statistical significance in individuals with c.983A>G (p\u00a0=\u00a00.18) or in healthy controls (p\u00a0=\u00a00.22), but it did in individuals with c.2708_2711delTTAG<\/jats:styled-content> (p\u00a0=\u00a00.02). Visual acuity decreased with decreasing GC<\/jats:styled-content>\u2010IPL<\/jats:styled-content> thickness (p\u00a0=\u00a00.0006 in c.983A>G and p\u00a0=\u00a00.0084 in c.2708_2711delTTAG<\/jats:styled-content>). Unlike c.2826_2836delinsGGATGCTCCA<\/jats:styled-content>, individuals with c.983A>G or c.2708_2711delTTAG<\/jats:styled-content> did not show a pattern of maximum GC<\/jats:styled-content>\u2010IPL<\/jats:styled-content> deficit inferonasal of the fovea.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Genotype\u2013phenotype heterogeneity in OPA<\/jats:styled-content>1<\/jats:italic> ADOA<\/jats:styled-content> is evident when inner retinal atrophy is examined as a function of age. Thus, a pronounced decline with age in GC<\/jats:styled-content>\u2010IPL<\/jats:styled-content> thickness is observed in c.2708_2711delTTAG ADOA<\/jats:styled-content>, an intermediate decline with age is observed in c.983A>G ADOA<\/jats:styled-content>, whereas little or no change with age is observed in c.2826_2836delinsGGATGCTCCA ADOA<\/jats:styled-content>. This genotype\u2013phenotype heterogeneity may explain why some patients have progressive visual loss while others have a relatively stable prognosis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.12835","type":"journal-article","created":{"date-parts":[[2015,9,19]],"date-time":"2015-09-19T08:27:40Z","timestamp":1442651260000},"page":"762-766","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Genotype\u2013phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal\u2010dominant optic atrophy"],"prefix":"10.1111","volume":"93","author":[{"given":"Cecilia","family":"R\u00f6nnb\u00e4ck","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Glostrup Hospital Glostrup Denmark"},{"name":"Faculty of Health Sciences University of Copenhagen Copenhagen 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