{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:20:31Z","timestamp":1787761231849,"version":"build-2784847793"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"10","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:p>A 24-year-old male patient presented to us with diminution of vision in both eyes with watering and photophobia for the past 8 years. General physical examination showed short stature and poikiloderma. Ocular findings include photophobia with reflex tearing, dry eye, cicatricial ectropion, symblepharon approaching pupillary area of cornea, and multiple superficial punctuate erosions on the cornea. Both eyelids showed scanty meibomian glands on infrared meibography. The rest of the anterior and posterior segment was normal. The patient was treated with topical lubricants which reduced photophobia and corneal erosions. He then underwent symblepharon release with buccal mucosal grafting, which improved ectropion. Patient improved symptomatically with reduction of photophobia and improvement in vision as well.<\/jats:p>","DOI":"10.4103\/ijo.ijo_89_17","type":"journal-article","created":{"date-parts":[[2017,10,17]],"date-time":"2017-10-17T08:58:30Z","timestamp":1508230710000},"page":"1025-1027","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["Ophthalmic manifestations in Rothmund\u2013Thomson syndrome: Case report and review of literature"],"prefix":"10.4103","volume":"65","author":[{"given":"J T","family":"Chinmayee","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G R","family":"Meghana","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R K","family":"Prathiba","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T K","family":"Ramesh","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20251013","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1016\/0190-9622(92)70249-F","article-title":"Rothmund-thomson syndrome: Review of the world literature","volume":"27","author":"Vennos","year":"1992","journal-title":"J Am Acad Dermatol"},{"key":"R2-20251013","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1034\/j.1399-0004.2000.580308.x","article-title":"Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome","volume":"58","author":"Grant","year":"2000","journal-title":"Clin Genet"},{"key":"R3-20251013","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.canlet.2005.07.042","article-title":"Rothmund-thomson syndrome and RECQL4 defect: Splitting and lumping","volume":"232","author":"Larizza","year":"2006","journal-title":"Cancer Lett"},{"key":"R4-20251013","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1038\/8788","article-title":"Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome","volume":"22","author":"Kitao","year":"1999","journal-title":"Nat Genet"},{"key":"R5-20251013","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0039-6257(02)00400-9","article-title":"Ocular manifestations in the inherited DNA repair disorders","volume":"48","author":"Dollfus","year":"2003","journal-title":"Surv Ophthalmol"},{"key":"R6-20251013","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1002\/1096-8628(20010722)102:1<11::AID-AJMG1413>3.0.CO;2-A","article-title":"Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients","volume":"102","author":"Wang","year":"2001","journal-title":"Am J Med Genet"},{"key":"R7-20251013","doi-asserted-by":"crossref","first-page":"518","DOI":"10.4103\/2229-5178.142533","article-title":"Rothmund-Thomson syndrome","volume":"5","author":"Manavi","year":"2014","journal-title":"Indian Dermatol Online J"},{"key":"R8-20251013","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1111\/j.1346-8138.2008.00436.x","article-title":"Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: Case report and published work review","volume":"35","author":"Stinco","year":"2008","journal-title":"J Dermatol"},{"key":"R9-20251013","first-page":"520","article-title":"Rothmund-Thomson syndrome with glaucoma. An endocrinologic study","volume":"30","author":"Nathanson","year":"1983","journal-title":"Ann Pediatr (Paris)"},{"key":"R10-20251013","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1111\/j.1365-2230.2006.02080.x","article-title":"An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis","volume":"31","author":"Mak","year":"2006","journal-title":"Clin Exp Dermatol"},{"key":"R11-20251013","doi-asserted-by":"crossref","first-page":"186","DOI":"10.5935\/0004-2749.20160053","article-title":"Rothmund-Thomson syndrome and ocular surface findings: Case reports and review of the literature","volume":"79","author":"Miranda","year":"2016","journal-title":"Arq Bras Oftalmol"},{"key":"R12-20251013","doi-asserted-by":"crossref","first-page":"E760","DOI":"10.1097\/OPX.0b013e3182512ac1","article-title":"A review of meibography","volume":"89","author":"Pult","year":"2012","journal-title":"Optom Vis Sci"},{"key":"R13-20251013","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1016\/S0161-6420(85)33848-4","article-title":"In vivo transillumination biomicroscopy and photography of meibomian gland dysfunction. A clinical study","volume":"92","author":"Robin","year":"1985","journal-title":"Ophthalmology"}],"container-title":["Indian Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/02223307-201765100-00027","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:28:55Z","timestamp":1787758135000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/02223307-201765100-00027"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10]]},"references-count":13,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.4103\/ijo.ijo_89_17","relation":{},"ISSN":["0301-4738","1998-3689"],"issn-type":[{"value":"0301-4738","type":"print"},{"value":"1998-3689","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10]]},"assertion":[{"value":"2017-03-22","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-09-14","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}