{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:53:43Z","timestamp":1760147623697,"version":"build-2065373602"},"reference-count":21,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T00:00:00Z","timestamp":1676937600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Initiative on Rare and Undiagnosed Diseases","award":["JP22ek0109549"],"award-info":[{"award-number":["JP22ek0109549"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Musculocontractural Ehlers\u2013Danlos syndrome, caused by biallelic loss-of-function variants for dermatan sulfate epimerase (mcEDS-DSE), is a rare connective tissue disorder. Eight patients with mcEDS-DSE have been described with ocular complications, including blue sclera, strabismus, high refractive errors, and elevated intraocular pressure. However, a case with rhegmatogenous retinal detachment (RRD) has not been reported. We report our findings in a 24-year-old woman who was diagnosed with mcEDS-DSE in childhood and presented to our clinic with an RRD in the left eye. The RRD extended to the macula and was associated with an atrophic hole. The patient underwent scleral buckling surgery and cryopexy with drainage of subretinal fluid through a sclerotomy under local anesthesia. The sclera did not appear blue but was very thin at the sclerotomy site. The patient developed frequent bradycardia during the surgery. Subretinal or choroidal hemorrhages were not observed intraoperatively; however, a peripapillary hemorrhage was observed one day after operation. The retina was reattached postoperatively, and the peripapillary hemorrhage was absorbed after one month. The peripapillary retinal hemorrhages, thin sclera, and bradycardia were most likely due to the fragility of the eye. The genetic diagnosis of mcEDS-DSE played an important role before and during the surgery by alerting the surgeons to possible surgical complications due to the thin sclera.<\/jats:p>","DOI":"10.3390\/jcm12051728","type":"journal-article","created":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T01:39:47Z","timestamp":1677029987000},"page":"1728","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers\u2013Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase"],"prefix":"10.3390","volume":"12","author":[{"given":"Yuji","family":"Yoshikawa","sequence":"first","affiliation":[{"name":"Kyorin Eye Center, School of Medicine, Kyorin University, 6-20-2 Shinkawa, Mitaka 181-8611, Tokyo, Japan"},{"name":"Department of Ophthalmology, Faculty of Medicine, Saitama Medical University, 38 Morohongo, Moroyama, Iruma 350-0495, Saitama, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Koto","sequence":"additional","affiliation":[{"name":"Kyorin Eye Center, School of Medicine, Kyorin University, 6-20-2 Shinkawa, Mitaka 181-8611, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoka","family":"Ishida","sequence":"additional","affiliation":[{"name":"Kyorin Eye Center, School of Medicine, Kyorin University, 6-20-2 Shinkawa, Mitaka 181-8611, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Uehara","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Medicine, Keio University, 35 Shinanomachi, Shinjyuku, Tokyo 160-8582, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4039-8899","authenticated-orcid":false,"given":"Mamiko","family":"Yamada","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Medicine, Keio University, 35 Shinanomachi, Shinjyuku, Tokyo 160-8582, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, School of Medicine, Keio University, 35 Shinanomachi, Shinjyuku, Tokyo 160-8582, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9887-3210","authenticated-orcid":false,"given":"Makoto","family":"Inoue","sequence":"additional","affiliation":[{"name":"Kyorin Eye Center, School of Medicine, Kyorin University, 6-20-2 Shinkawa, Mitaka 181-8611, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ajmg.c.31552","article-title":"The 2017 international classification of the Ehlers-Danlos syndromes","volume":"175","author":"Malfait","year":"2017","journal-title":"Am. 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