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Ophthalmoscopy revealed non-rhegmatogenous retinal detachment with shifting subretinal fluid. The horizontal corneal diameter was 11.5\u00a0mm in both eyes, while the axial lengths were 15.6 and 15.3\u00a0mm in the right and left eyes, respectively, confirming the diagnosis of nanophthalmos (microphthalmia)-associated UES. After steroid pulse therapy followed by sclerectomy with vortex vein decompression (S-VVD), the UES resolved 10\u00a0months postoperatively. The eyes remained stable for 15\u00a0years, after which the patient developed bilateral cataracts and elevated intraocular pressure. Cataract surgery was done uneventfully, but signs of UES appeared in the left eye five days postoperatively. This was controlled with multiple treatments, including steroid pulse therapy, intravitreal anti VEGF injection, and oral carbonic anhydrase inhibitor. However, UES recurred after five months. S-VVD and vitrectomy with silicone oil tamponade were performed, and the UES resolved after one year postoperatively. Ultimately, electroretinography (ERG) became non-recordable, and the visual fields were constricted in both eyes. Whole-exome sequencing identified a previously unreported homozygous nonsense variant in\n                      <jats:italic>PRSS56<\/jats:italic>\n                      (c.202C&gt;T, p.Arg68Ter), classified as pathogenic based on the ACMG criteria.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This report describes a patient with an unreported pathogenic\n                      <jats:italic>PRSS56<\/jats:italic>\n                      variant who exhibited a typical and severe course of nanophthalmos (isolated microphthalmia) complicated by bilateral UES. Although the effusions eventually resolved after multiple interventions, the prolonged UES was challenging to manage and resulted in irreversible retinal dysfunction with a non-recordable ERG.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10633-026-10115-9","type":"journal-article","created":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T17:58:23Z","timestamp":1781891903000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical course of a patient with PRSS56-associated nanophthalmos (isolated microphthalmia) and uveal effusion syndrome"],"prefix":"10.1007","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-4707-2433","authenticated-orcid":false,"given":"Yukari","family":"Taguchi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0242-5662","authenticated-orcid":false,"given":"Kazuki","family":"Kuniyoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5389-6507","authenticated-orcid":false,"given":"Kei","family":"Mizobuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0836-5816","authenticated-orcid":false,"given":"Chiharu","family":"Iwahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3673-2296","authenticated-orcid":false,"given":"Masuo","family":"Sakamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2418-4778","authenticated-orcid":false,"given":"Fukutato","family":"Mano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-0279","authenticated-orcid":false,"given":"Takaaki","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8364-0948","authenticated-orcid":false,"given":"Shunji","family":"Kusaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,19]]},"reference":[{"key":"10115_CR1","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1136\/bjo.78.5.332","volume":"78","author":"MJ Elder","year":"1994","unstructured":"Elder MJ (1994) Aetiology of severe visual impairment and blindness in microphthalmos. 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The study protocol, including genetic analysis, was approved by the ethics review boards of Kindai University (approved # R06\u2011155) and The\u00a0Jikei University (24\u20112316997). Written informed consent was obtained from the patient. This study adhered to the tenets of the Declaration of Helsinki and its later amendments.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"All procedures performed in this study involving human participants were conducted in accordance with the ethical standards of the institutional and national research committee and with the Declaration of Helsinki and its later amendments or comparable ethics standards.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human rights"}}]}}