{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T12:08:34Z","timestamp":1770898114837,"version":"3.50.1"},"reference-count":27,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T00:00:00Z","timestamp":1718150400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T00:00:00Z","timestamp":1718150400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Ophthalmol"],"abstract":"<jats:p>Introduction: We report a case of pseudoxanthoma elasticum (PXE) with an atypical phenotype likely related to a hypomorphic variant in ABCC6. Case Presentation: A 66-year-old Caucasian female with a history of a maculopathy interpreted as either age-related macular degeneration or a pattern dystrophy underwent a detailed ophthalmic evaluation. Visual acuities were 20\/25, OD, and 20\/20, OS. Spectral domain optical coherence and fluorescein angiography demonstrated outer retinal disruptions and breaks in retinal pigment epithelium (RPE)\/Bruch\u2019s membrane bilaterally, consistent with angioid streaks. A large area of hypo- and hyperautofluorescence extending from the central retina into the peripapillary retina was documented with short-wavelength excitation autofluorescence. The area of hypoautofluorescence, which was much larger on near-infrared excitation, spared the temporal retina. Two-color dark-adapted perimetries documented severe rod sensitivity losses and less severe cone sensitivity abnormalities co-localizing with the RPE abnormalities. No obvious skin findings were observed, and initial dermatologic biopsy was negative. Gene screening identified a pathogenic ABCC6 gene variant c.1552C&amp;gt;T and a previously reported variant of uncertain significance c.1171A&amp;gt;G. A second dermatologic biopsy demonstrated positive findings consistent with PXE. Conclusion: Although this patient had minimal skin findings, this patient had characteristic structural and functional abnormalities of a pattern dystrophy with angioid streaks and histologic evidence of PXE, suggesting compound heterozygous variants involving the hypomorphic ABCC6 c.1171A&amp;gt;G variant. These findings support the pathogenic role of both variants. <\/jats:p>","DOI":"10.1159\/000538045","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T14:07:25Z","timestamp":1724767645000},"page":"497-506","source":"Crossref","is-referenced-by-count":2,"title":["Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy"],"prefix":"10.1159","volume":"15","author":[{"given":"Jonathan C.","family":"Tsui","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomas S.","family":"Aleman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul J.","family":"Tapino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin J.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2024,6,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.051094"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1517\/21678707.2014.908702"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0639-8"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0b013e3181f056ce"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0000000000002689"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2020.4335"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2016.10.022"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2020.05.009"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1157"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/1873-3468.13957"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198708063170604"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33329"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202x.2004.22312.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700115"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.020"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.213"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24498"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199310213291705"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.123.7.923"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1177\/1120672120928305"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-020-04748-y"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-018-4037-2"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1097\/iae.0b013e3181aade47"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2006.01.037"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.3205\/oc000003"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.14637"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14177"}],"container-title":["Case Reports in Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/cop\/article-pdf\/15\/1\/490\/4241039\/000538045.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/cop\/article-pdf\/15\/1\/490\/4241039\/000538045.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:09:26Z","timestamp":1745420966000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000538045"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,12]]},"references-count":27,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,6,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000538045","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.25780689","asserted-by":"subject"}]},"ISSN":["1663-2699"],"issn-type":[{"value":"1663-2699","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,12]]}}}