{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T12:51:55Z","timestamp":1777726315444,"version":"3.51.4"},"reference-count":25,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T00:00:00Z","timestamp":1588204800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670837, 81170828"],"award-info":[{"award-number":["81670837, 81170828"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:p>Progressive hemifacial atrophy (PHA) is mainly characterized by asymmetrical atrophy of craniofacial tissue; however, 10% to 30% of patients with PHA exhibit ocular manifestations. Here, we describe abnormal ocular findings in a Chinese patient with PHA. The patient was a 29-year-old Chinese man. Characteristic ocular findings in his affected eye included keratic precipitate, corneal endothelial degeneration, fundus tessellation, pupillary dilation, direct light reflex loss, and visual evoked potential alteration. Whole exosome sequencing revealed that the patient harbored a mutation in the CRB1 gene; this gene has been associated with various retinal dystrophies. During 10 years of follow-up, the patient\u2019s ocular status remained stable. To the best of our knowledge, this is the first report of ocular manifestations of PHA in a Chinese patient, and the first report of a CRB1 mutation in a patient with PHA; these findings may inform future research regarding PHA.<\/jats:p>","DOI":"10.1177\/0300060520910635","type":"journal-article","created":{"date-parts":[[2020,4,30]],"date-time":"2020-04-30T08:56:18Z","timestamp":1588236978000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Progressive hemifacial atrophy with characteristic ocular manifestations in a Chinese patient with a\n                    <i>CRB1<\/i>\n                    mutation"],"prefix":"10.1177","volume":"48","author":[{"given":"Jinghua","family":"Liu","sequence":"first","affiliation":[{"name":"Tianjin Medical University, Tianjin, China"},{"name":"Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Laboratory of Ophthalmology and Visual Science, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Liu","sequence":"additional","affiliation":[{"name":"Southwest Medical University, Luzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liming","family":"Wang","sequence":"additional","affiliation":[{"name":"Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Laboratory of Ophthalmology and Visual Science, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China"},{"name":"Nankai University Eye Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Tianjin Medical University, Tianjin, China"},{"name":"Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Laboratory of Ophthalmology and Visual Science, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Hao","sequence":"additional","affiliation":[{"name":"Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Laboratory of Ophthalmology and Visual Science, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China"},{"name":"Nankai University Eye Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1052-4222","authenticated-orcid":false,"given":"Xuan","family":"Li","sequence":"additional","affiliation":[{"name":"Tianjin Medical University, Tianjin, China"},{"name":"Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Laboratory of Ophthalmology and Visual Science, Clinical College of Ophthalmology, Tianjin Medical University, Tianjin, China"},{"name":"Nankai University Eye Hospital, Tianjin, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,4,30]]},"reference":[{"key":"bibr1-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2005.10.020"},{"key":"bibr2-0300060520910635","doi-asserted-by":"publisher","DOI":"10.4103\/0301-4738.151474"},{"key":"bibr3-0300060520910635","doi-asserted-by":"crossref","first-page":"e63","DOI":"10.3928\/01913913-20111129-02","volume":"48","author":"Prescott CR","year":"2011","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"bibr4-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1186\/s12886-015-0093-0"},{"key":"bibr5-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21653"},{"key":"bibr6-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-7434"},{"key":"bibr7-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1111\/bpa.12762"},{"key":"bibr8-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0250-9"},{"key":"bibr9-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<57::AID-HUMU12>3.0.CO;2-G"},{"key":"bibr10-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-017-0082-2"},{"key":"bibr11-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1067\/mpa.2002.122520"},{"key":"bibr12-0300060520910635","first-page":"608","volume":"156","author":"Detilleux JM","year":"1970","journal-title":"Bull Soc Belge Ophtalmol"},{"key":"bibr13-0300060520910635","first-page":"203","volume":"93","author":"Miller MT","year":"1995","journal-title":"Trans Am Ophthalmol Soc"},{"key":"bibr14-0300060520910635","doi-asserted-by":"publisher","DOI":"10.3928\/15428877-20080101-18"},{"key":"bibr15-0300060520910635","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/0002-9394(63)93572-4","volume":"55","author":"Moura RA.","year":"1963","journal-title":"Am J Ophthalmol"},{"key":"bibr16-0300060520910635","doi-asserted-by":"publisher","DOI":"10.3928\/01913913-20090101-11"},{"key":"bibr17-0300060520910635","first-page":"681","volume":"66","author":"Rogers BO.","year":"1964","journal-title":"J Proc 3d Int Cong Plast Surg. Excerpta Medica ICS"},{"key":"bibr18-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1007\/BF00188556"},{"key":"bibr19-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1002\/1098-2752(2000)20:4<167::AID-MICR4>3.0.CO;2-D"},{"key":"bibr20-0300060520910635","first-page":"956","volume":"19","author":"Fry JA","year":"1992","journal-title":"J Rheumatol"},{"key":"bibr21-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-3083.2002.00442.x"},{"key":"bibr22-0300060520910635","doi-asserted-by":"publisher","DOI":"10.5021\/ad.2011.23.3.342"},{"key":"bibr23-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1097\/SAP.0b013e31818bed6d"},{"key":"bibr24-0300060520910635","doi-asserted-by":"publisher","DOI":"10.1097\/01.prs.0000182402.58757.b9"},{"key":"bibr25-0300060520910635","first-page":"199","volume":"76","author":"Tebloev IK","year":"1976","journal-title":"Zh Nevropatol Psikhiatr Im S S Korsakova"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0300060520910635","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0300060520910635","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0300060520910635","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:46:02Z","timestamp":1777459562000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0300060520910635"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,30]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,5]]}},"alternative-id":["10.1177\/0300060520910635"],"URL":"https:\/\/doi.org\/10.1177\/0300060520910635","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,30]]},"article-number":"0300060520910635"}}