{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T19:05:46Z","timestamp":1789758346087,"version":"4.0.1"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,5]],"date-time":"2020-03-05T00:00:00Z","timestamp":1583366400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008017","name":"Flinders Medical Centre Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008017","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["APP1107098"],"award-info":[{"award-number":["APP1107098"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R01 HG009141"],"award-info":[{"award-number":["R01 HG009141"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001061","name":"Rebecca L. Cooper Medical Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001061","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001108","name":"Ophthalmic Research Institute of Australia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos or posterior microphthalmos, with 12 probands subjected to exome sequencing. Nine probands (69.2%) were assigned a genetic diagnosis, with variants in\n                    <jats:italic>MYRF<\/jats:italic>\n                    ,\n                    <jats:italic>TMEM98<\/jats:italic>\n                    ,\n                    <jats:italic>MFRP<\/jats:italic>\n                    , and\n                    <jats:italic>PRSS56<\/jats:italic>\n                    . Two of four\n                    <jats:italic>PRSS56<\/jats:italic>\n                    families harbored the previously described c.1066dupC variant implicated in over half of all reported\n                    <jats:italic>PRSS56<\/jats:italic>\n                    kindreds, with different surrounding haplotypes in each family suggesting a mutational hotspot. Individuals with a genetic diagnosis had shorter mean axial lengths and higher hyperopia than those without, with recessive forms associated with the most extreme phenotypes. These findings detail the genetic architecture of nanophthalmos and posterior microphthalmos in a cohort of predominantly European ancestry, their relative clinical phenotypes, and highlight the shared genetic architecture of rare and common disorders of refractive error.\n                  <\/jats:p>","DOI":"10.1111\/cge.13722","type":"journal-article","created":{"date-parts":[[2020,2,12]],"date-time":"2020-02-12T22:44:14Z","timestamp":1581547454000},"page":"764-769","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort"],"prefix":"10.1111","volume":"97","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2840-4851","authenticated-orcid":false,"given":"Owen M.","family":"Siggs","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Flinders University  Adelaide 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S.","family":"Kearns","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital  Melbourne Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Laurie","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University  Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abraham","family":"Kuot","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University  Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayub","family":"Qassim","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Flinders University  Adelaide Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas L.","family":"Edwards","sequence":"additional","affiliation":[{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital  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