دورية أكاديمية

Ophthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature.

التفاصيل البيبلوغرافية
العنوان: Ophthalmic manifestations in Rothmund-Thomson syndrome: Case report and review of literature.
المؤلفون: Chinmayee JT; Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India., Meghana GR; Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India., Prathiba RK; Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India., Ramesh TK; Department of Ophthalmology, Regional Institute of Ophthalmology, Bangalore Medical College and Research Institute, Minto Eye Hospital, Bengaluru, Karnataka, India.
المصدر: Indian journal of ophthalmology [Indian J Ophthalmol] 2017 Oct; Vol. 65 (10), pp. 1025-1027.
نوع المنشور: Case Reports; Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print Cited Medium: Internet ISSN: 1998-3689 (Electronic) Linking ISSN: 03014738 NLM ISO Abbreviation: Indian J Ophthalmol Subsets: MEDLINE
أسماء مطبوعة: Publication: Mumbai : Medknow Publications
Original Publication: Bombay : All-India Ophthalmological Society
مواضيع طبية MeSH: Dry Eye Syndromes/*etiology , Eyelid Diseases/*etiology , Meibomian Glands/*diagnostic imaging , Rothmund-Thomson Syndrome/*complications, Diagnostic Techniques, Ophthalmological ; Dry Eye Syndromes/diagnosis ; Dry Eye Syndromes/drug therapy ; Eyelid Diseases/diagnosis ; Eyelid Diseases/surgery ; Humans ; Lubricant Eye Drops/administration & dosage ; Male ; Mouth Mucosa/transplantation ; Ophthalmologic Surgical Procedures/methods ; Rothmund-Thomson Syndrome/diagnosis ; Young Adult
مستخلص: 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.
References: Indian Dermatol Online J. 2014 Oct;5(4):518-9. (PMID: 25396146)
Surv Ophthalmol. 2003 Jan-Feb;48(1):107-22. (PMID: 12559331)
Cancer Lett. 2006 Jan 28;232(1):107-20. (PMID: 16271439)
J Dermatol. 2008 Mar;35(3):154-61. (PMID: 18346259)
Am J Med Genet. 2001 Jul 22;102(1):11-7. (PMID: 11471165)
Ophthalmology. 1985 Oct;92(10):1423-6. (PMID: 4069605)
J Am Acad Dermatol. 1992 Nov;27(5 Pt 1):750-62. (PMID: 1430398)
Clin Exp Dermatol. 2006 May;31(3):401-3. (PMID: 16681588)
Arq Bras Oftalmol. 2016 May-Jun;79(3):186-8. (PMID: 27463631)
Clin Genet. 2000 Sep;58(3):209-15. (PMID: 11076043)
Ann Pediatr (Paris). 1983 Sep;30(7):520-5. (PMID: 6638800)
Optom Vis Sci. 2012 May;89(5):E760-9. (PMID: 22488268)
Nat Genet. 1999 May;22(1):82-4. (PMID: 10319867)
المشرفين على المادة: 0 (Lubricant Eye Drops)
تواريخ الأحداث: Date Created: 20171019 Date Completed: 20171218 Latest Revision: 20181113
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC5678305
DOI: 10.4103/ijo.IJO_89_17
PMID: 29044077
قاعدة البيانات: MEDLINE
الوصف
تدمد:1998-3689
DOI:10.4103/ijo.IJO_89_17