{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T10:33:50Z","timestamp":1789727630536,"version":"4.0.1"},"reference-count":39,"publisher":"Wiley","license":[{"start":{"date-parts":[[2020,10,6]],"date-time":"2020-10-06T00:00:00Z","timestamp":1601942400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["NEI K12-EY022299"],"award-info":[{"award-number":["NEI K12-EY022299"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Ophthalmology"],"published-print":{"date-parts":[[2020,10,6]]},"abstract":"<jats:p>Background\/Aims. Optic disc drusen (ODD) are calcified deposits of proteinaceous material in the optic disc, and their burden in ocular conditions is unknown. As ODD can be associated with visual field defects further compromising already degenerating visual function in patients with retinal degenerations, it is important to further our knowledge of ODD in inherited eye disease. The present study aims to evaluate prevalence, demographic features, and optic disc parameters of eyes with superficial ODD in inherited eye conditions. Materials and Methods. Electronic medical records of patients evaluated in the Ophthalmic Genetics clinic at the National Eye Institute (NEI) between 2008 and 2018 were searched for a superficial ODD diagnosis. Color fundus and autofluorescence images were reviewed to confirm ODD, supplemented with optical coherence tomography (OCT) in uncertain cases when available. Demographic information, examination, and genetic testing were reviewed. Disc areas and disc-to-macula distance to disc diameter ratios (DM\u2009:\u2009DD) were calculated. Results. Fifty six of 6207 patients had photographically confirmed ODD (0.9%). Drusen were predominantly bilateral (66%), with a female (62%) and Caucasian (73%) predilection. ODD prevalence in our cohort of patients with inherited retinal degenerations was 2.5%, and ODD were more prevalent in the rod-cone dystrophy subgroup at 2.95% (OR\u2009=\u20093.3 [2.1\u20135.3], <jats:inline-formula>\n\t\t\t\t\t\t\t<a:math xmlns:a=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\">\n\t\t\t\t\t\t\t\t<a:mi>P<\/a:mi>\n\t\t\t\t\t\t\t\t<a:mo>&lt;<\/a:mo>\n\t\t\t\t\t\t\t\t<a:mn>0.001<\/a:mn>\n\t\t\t\t\t\t\t<\/a:math>\n\t\t\t\t\t\t<\/jats:inline-formula>) compared to the ophthalmic genetics cohort. Usher patients were more likely to have ODD (10\/132, 7.6%, OR\u2009=\u20099.0 [4.3\u201317.7], <jats:inline-formula>\n\t\t\t\t\t\t\t<c:math xmlns:c=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\">\n\t\t\t\t\t\t\t\t<c:mi>P<\/c:mi>\n\t\t\t\t\t\t\t\t<c:mo>&lt;<\/c:mo>\n\t\t\t\t\t\t\t\t<c:mn>0.001<\/c:mn>\n\t\t\t\t\t\t\t<\/c:math>\n\t\t\t\t\t\t<\/jats:inline-formula>) and had significantly smaller discs compared to the rest of our ODD cohort (disc area: <jats:inline-formula>\n\t\t\t\t\t\t\t<e:math xmlns:e=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\">\n\t\t\t\t\t\t\t\t<e:mi>P<\/e:mi>\n\t\t\t\t\t\t\t\t<e:mo>=<\/e:mo>\n\t\t\t\t\t\t\t\t<e:mn>0.001<\/e:mn>\n\t\t\t\t\t\t\t<\/e:math>\n\t\t\t\t\t\t<\/jats:inline-formula>, DM\u2009:\u2009DD: <jats:inline-formula>\n\t\t\t\t\t\t\t<g:math xmlns:g=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\">\n\t\t\t\t\t\t\t\t<g:mi>P<\/g:mi>\n\t\t\t\t\t\t\t\t<g:mo>=<\/g:mo>\n\t\t\t\t\t\t\t\t<g:mn>0.03<\/g:mn>\n\t\t\t\t\t\t\t<\/g:math>\n\t\t\t\t\t\t<\/jats:inline-formula>). Discussion. While an association between ODD and retinitis pigmentosa has been reported, this study surveys a large cohort of patients with inherited eye conditions and finds the prevalence of superficial ODD is lower than that in the literature. Some subpopulations, such as rod-cone dystrophy and Usher syndrome, had a higher prevalence than the cohort as a whole.<\/jats:p>","DOI":"10.1155\/2020\/5082706","type":"journal-article","created":{"date-parts":[[2020,10,7]],"date-time":"2020-10-07T08:48:42Z","timestamp":1602060522000},"page":"1-8","source":"Crossref","is-referenced-by-count":13,"title":["Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort"],"prefix":"10.1155","volume":"2020","author":[{"given":"Jasmine Y.","family":"Serpen","sequence":"first","affiliation":[{"name":"National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"},{"name":"Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lev","family":"Prasov","sequence":"additional","affiliation":[{"name":"National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"},{"name":"Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan, Ann Arbor, MI 48105, USA"},{"name":"Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wadih M.","family":"Zein","sequence":"additional","affiliation":[{"name":"National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine A.","family":"Cukras","sequence":"additional","affiliation":[{"name":"National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denise","family":"Cunningham","sequence":"additional","affiliation":[{"name":"National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth C.","family":"Murphy","sequence":"additional","affiliation":[{"name":"National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Turriff","sequence":"additional","affiliation":[{"name":"National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"},{"name":"The National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian P.","family":"Brooks","sequence":"additional","affiliation":[{"name":"National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0309-9419","authenticated-orcid":true,"given":"Laryssa A.","family":"Huryn","sequence":"additional","affiliation":[{"name":"National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2016.03.007"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1097\/wno.0000000000000585"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2009.200089"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1016\/s0161-6420(99)00708-3"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1016\/s0161-6420(81)80038-3"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1111\/aos.13748"},{"key":"7","first-page":"1483","article-title":"A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation","volume":"12","author":"R. 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