KaydedilenlerDerginizi ekleyin

Dergiler / Retina-Vitreus / 2020 / Cilt: 29 - Sayı: 1

An Interesting Case of Wrongly Diagnosed Goldmann- Favre Syndrome

Selda ÇELİK DÜLGER
Mehmet Yasin TEKE
Sayfa
80–83
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

In this study, we presented a case of Goldman-Favre vitreoretinal degeneration in 30 year-old man who was wrongly diagnosed and treated as cystoid macular edema.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Goldmann-Favre syndrome (GFS) is a rare vitreoretinal degeneration related to retinal nuclear receptor mutation.
📊
Temel Bulgular & Veri:GFS has a wide variety of clinical features, often misdiagnosed as retinitis pigmentosa, juvenile retinoschisis, cystoid macular edema or clumped pigment retinopathy.
💡
Sonuç & Katkı:In this study, we presented a case of Goldman-Favre vitreoretinal degeneration in 30 year-old man who was wrongly diagnosed and treated as cystoid macular edema.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Goldmann-Favre syndrome (GFS) is a rare vitreoretinal degeneration related to retinal nuclear receptor mutation. GFS has a wide variety of clinical features, often misdiagnosed as retinitis pigmentosa, juvenile retinoschisis, cystoid macular edema or clumped pigment retinopathy. In this study, we presented a case of Goldman-Favre vitreoretinal degeneration in 30 year-old man who was wrongly diagnosed and treated as cystoid macular edema.

🔖

Bu Makaleye Atıf Yap

DÜLGER, S. Ç., TEKE, M. Y. (2020). An Interesting Case of Wrongly Diagnosed Goldmann- Favre Syndrome. Retina-Vitreus, Cilt: 29 - Sayı: 1, 80–83. https://ajindex.com/articles/304778

Kaynakça (15)

  1. Fishman GA, Jampol LM, Goldberg MF. Diagnostic features of the Favre-Goldmann syndrome. Br J Ophthalmol. 1976;60:345-53
  2. Peyman GA, Fishman GA, Sanders DR,Vlchek J. Hisyopathology of Goldmann-Favre syndrome obtained by full-thickness eye wall biopsy. Ann Ophthalmol 1977;9:479- 84
  3. Haider NB, Jacobson SG, Cideciyan AV, et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 2000;24:127–31
  4. Kobayashi M, Takezawa S, Hara K, et al. Identifi cation of a photoreceptor cell-specifi c nuclear receptor. Proc Natl Acad Sci USA 1999;96:4814–9
  5. Marmor MF. A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldman- Favre syndrome). Doc ophthalmol 2006;113:213-15
  6. Theodossiadis PG, Koutsandrea C, Kollia AC, Theodossiadis GP. Optical coherence tomography in the study of the Goldmann-Favre syndrome. Am J Ophthalmol 2000;129:542- 4
  7. Batioglu F. Goldmann-Favre vitreoretinal degeneration. Eur J Ophthalmol. 2003;13:307-310
  8. Rinaldi C, Vitale L, Pachydaki S, Yannuzzi LA. Spontaneous resolution of macular schisis in goldmann favre syndrome. Retin Cases Brief Rep. 2011;5:84-86
  9. To KW, Adamian M, Jacobiec FA, Berson EL. Clinical and histopathologic fi ndings in clumped pigmentary retinal degeneration. Arch Ophthalmol 1996; 114:950-5
  10. Mustafi D, Kevany BM, Genoud C, et al. Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. Faseb J. 2011; 25(9): 3157–3176
  11. Wang NK, Fine HF, Chang S, et al. Cellular origin of fundus autofl uorescence in patients and mice with a defective NR2E3 gene. Br J Ophthalmol. 2009; 93:1234–1240. PubMed: 19429590 12. Sohn EH, Chen FK, Rubin GS, et al. Macular function assessed by microperimetry in patients with enhanced S-cone syndrome. Ophthalmology 2010;117:1199–206 e1
  12. Salvatore S, Fishman GA, Genead MA. Treatment of cystic macular lesions in hereditary retinal dystrophies. Surv Ophthalmol 2013; 58:560–584
  13. Hirakawa H, Iijima H, Gohdo T, et al. Optical coherence tomography of cystoid macular edema associated with retinitis pigmentosa. Am J Ophthalmol 1999;128:185–191
  14. Ghajarnia M, Gorin MB. Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol 2007;125:571–573
  15. Genead MA, Fishman GA, McAnany JJ. Effi cacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndr