Journals / MN Oftalmoloji / 2008 / Cilt: 15 - Sayı: 1

Bietti's crystalline corneal-distrophy with classical fundoscopic and angiographic findings: Case report

Bir olgumuzda bietti kristalinin kornea-retinal distrofisi klinik ve muayene bulguları

Pages
60–62
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)

With this case report, we wanted to present clinical and laboratory findings as well as evaluation strategies of this rare and recessively inherited disease.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Twenty-six years old female patient complaining of progressive visual loss and night vision insufficiency was diagnosed as having Bietti’s crystalline corneal-retinal dystrophy with classical fundoscopic and angiographic findings.
📊
Key Findings & Data:Twenty-six years old female patient complaining of progressive visual loss and night vision insufficiency was diagnosed as having Bietti’s crystalline corneal-retinal dystrophy with classical fundoscopic and angiographic findings.
💡
Conclusion & Impact:With this case report, we wanted to present clinical and laboratory findings as well as evaluation strategies of this rare and recessively inherited disease.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Twenty-six years old female patient complaining of progressive visual loss and night vision insufficiency was diagnosed as having Bietti’s crystalline corneal-retinal dystrophy with classical fundoscopic and angiographic findings. With this case report, we wanted to present clinical and laboratory findings as well as evaluation strategies of this rare and recessively inherited disease.

Özet

Kliniğimizde ilerleyici görme azlığı ve gece görme kaybı şikayeti ile başvuran 26 yaşındaki bayan hastanın yapılan göz muayenesi ve fundus floresein anjiyografi sonrası Bietti kristalin kornea-retinal distrofisi tanısı konulmuştur. Bu vaka takdimi ile otozomal resesif kalıtım gösteren bu nadir hastalığın güncel bilgiler doğrultusunda tanısı ve yönetimi hakkında bilgi verilmesi amaçlanmıştır.

🔖

Cite This Article

DEMİR, S., BEDEN, Ü., SÜLLÜ, Y. (2008). Bietti's crystalline corneal-distrophy with classical fundoscopic and angiographic findings: Case report. MN Oftalmoloji, Cilt: 15 - Sayı: 1, 60–62. https://ajindex.com/articles/296826

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (9)

  1. Şengör T, Alanyalı A, Akı S, ve ark. Bir olgu nedeniyle Bietti’ nin kristalin retina ve kornea distrofisi. Ret-vit 1996;1:494-7
  2. Güven D, Aksünger A, Akbatur HH, ve ark. Bir olgu nedeniy le Bietti’nin kristalin retina distrofisi. Ret-vit 1994;2:206-8
  3. Li A, Jiao X, Munier FL, et al. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 2004;74:817-26
  4. Lee KY, Koh AH, Aung T, et al. Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. Invest Ophthalmol Vis Sci 2005;46:3812-6
  5. Wada Y, Itabashi T, Sato H, et al. Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. Am J Ophthalmol 2005;139:894-9
  6. Lin J, Nishiguchi KM, Nakamura M, et al. Recessive mutati ons in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy. J Med Genet 2005;42:38-44
  7. Shan M, Dong B, Zhao X, et al. Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. Mol Vis 2005;11:738-43
  8. Lee J, Jiao X, Hejtmancik JF, et al. The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci 2001;42:1707-14
  9. Jiao X, Munier FL, Iwata F, et al. Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet 2000;67:1309-13.