Journals / Retina-Vitreus / 2008 / Cilt: 16 - Sayı: 4

Microcornea and stickler syndrome

Stickler sendromunda mikrokornea

Pages
303–306
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

We aimed to present the ophthalmic findings in a patient with Stickler syndrome who had high myopia, and had developed retinal detachment, and also had microcornea that has not been reported in the literature.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Stickler syndrome (progressive arthro-ophthalmopathy) is a genetically heterogeneous disorder chacracterized by musculoskeletal and ophthalmic anomalies, hearing loss and dysmorphic facial features.
📊
Key Findings & Data:Stickler syndrome (progressive arthro-ophthalmopathy) is a genetically heterogeneous disorder chacracterized by musculoskeletal and ophthalmic anomalies, hearing loss and dysmorphic facial features.
💡
Conclusion & Impact:We aimed to present the ophthalmic findings in a patient with Stickler syndrome who had high myopia, and had developed retinal detachment, and also had microcornea that has not been reported in the literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Ergen · Kadın · Göz içi basınç

Abstract

Stickler syndrome (progressive arthro-ophthalmopathy) is a genetically heterogeneous disorder chacracterized by musculoskeletal and ophthalmic anomalies, hearing loss and dysmorphic facial features. We aimed to present the ophthalmic findings in a patient with Stickler syndrome who had high myopia, and had developed retinal detachment, and also had microcornea that has not been reported in the literature.

Özet

Stickler sendromu (progresif artrooftalmopati), eklem ve iskelet anomalileri, işitme kaybı, oftalmik anomaliler ve dismorfik yüz görünümü ile karakterize genetik olarak heterojen bir bozukluktur. Yüksek miyopisi olan, retina dekolmanı gelişen ve daha önce literatürde bugüne kadar tanımlanmamış mikrokorneanın saptandığı Stickler sendromlu bir olguyu sunmayı amaçladık.

🔖

Cite This Article

BORAZAN, M., AKKOYUN, İ., KARALEZLİ, A., AKOVA, A. Y. (2008). Microcornea and stickler syndrome. Retina-Vitreus, Cilt: 16 - Sayı: 4, 303–306. https://ajindex.com/articles/305199

References (12)

  1. Stickler GB, Belau PG, Farrell FJ, et al.: Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc. 1965;40:433-455
  2. Stickler GB, Pugh DG.: Hereditary progressive arthroophthalmopathy. II. Additional observations on vertebral abnormalities, a hearing defect, and a report of a similar case. Mayo Clin Proc. 1967;42:495-500
  3. Donoso LA, Edwards AO, Frost AT, et al.: Clinical variability of Stickler syndrome: Role of exon 2 of the collagen COL2A1 gene. Surv Ophthalmol. 2003;48:191-203
  4. Rose PS, Levy HP, Liberfarb LM, et al.: Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Gen. 2005;138:199-207
  5. Nielsen CE.: Stickler’s syndrome. Acta Ophthalmol Scand. 1981;59:286-295
  6. Jones KL.: Smith’s recognizable patterns of human malformations. Philadelphia: Saunders. 1977:282-285
  7. Snead MP, Yates RW.: Clinical and molecular genetics of Stickler syndrome. J Med Genet. 1999;36:353-359
  8. Yararcan M, Boz Ü, Derebaşı H ve ark.: Stickler sendromlu olgularımız. Ret-Vit. 1998;6:140-147
  9. Kronwith SD, Quinn G, McDonald DM, et al.: Stickler’s syndromein the cleft palate clinic. J Pediat Ophth Strab. 1990;27:265-267
  10. Wank NK, Tsai CH, Chen YP, et al.: Pediatric rhegmatogenous retinal detachment in East Asians. Ophthalmology. 2005;112:1891-1896
  11. Stangos AN, Petropoulos IK, Brozou CG, et al.: Pars-plana vitrectomy alone vs vitrectomy with scleral buckling for primary rhegmatogenous pseudophakic retinal detachment. Am J Ophthalmol.2004;138:958-982
  12. Kanski JJ.: Clinical Ophthalmology. Butterworth-Heinemann Oxford.1999;143.