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Journals / Güncel Retina Dergisi / 2021 / Cilt: 5 - Sayı: 3

Pattern Dystrophies

Patern Distrofiler

CUMALİ DEĞİRMENCİ
FİLİZ AFRASHİ
Pages
208–212
DOI
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AI Summary & Key Takeaways

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

There is no specific treatment, but when complications arise, treatment should be done by reason.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Pattern dystrophies have been known since 1950 which have autosomal dominant inheritance pattern.
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Key Findings & Data:Despite significant retinal changes, the good visual acuity is often maintained.
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Conclusion & Impact:There is no specific treatment, but when complications arise, treatment should be done by reason.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Pattern dystrophies have been known since 1950 which have autosomal dominant inheritance pattern. Pattern dystrophies have been classified based on the pattern of the pigment distribution. Despite significant retinal changes, the good visual acuity is often maintained. However, complications such as choroidal neovascular membrane and retinal atrophy may develop in older patients and can significantly decrease the visual acuity. There is no specific treatment, but when complications arise, treatment should be done by reason.

Özet

Patern distrofiler 1950 yılından beri bilinen otozomal dominant geçişli bir hastalık grubudur. Bu hastalıklar retinada oluşturduğu pigmentasyon şekline göre isimlendirilmiştir. Belirgin retinal değişikliklere rağmen görme düzeyi genellikle korunmaktadır. Ancak yaş ilerledikçe koroidal neovasküler membran, atrofi gibi komplikasyonlar gelişebilmekte ve görmedüzeyini belirgin olarak düşürmektedir. Spesifik bir tedavisi yoktur ancak komplikasyonlar ortaya çıkınca tedavi nedenegöre yapılmalıdır.

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Cite This Article

DEĞİRMENCİ, C., AFRASHİ, F. (2021). Pattern Dystrophies. Güncel Retina Dergisi, Cilt: 5 - Sayı: 3, 208–212. https://ajindex.com/articles/347948

References (2)

  1. Son EH, Mullins RF, Stone EM. Macular Dystrophies (Retinal Degenerations and Dystrophies). Ryan SJ, Retina, 5th Edition,
  2. China, Elsevier, 2013; 953-996 2. Marmor MF, Byers B. Pattern dystrophy of the pigment epithelium. Am J Ophthalmol. 1977;84(1):32-44. 3. Hsieh RC, Fine BS, Lyons JS. Patterned dystrophies of the retinal pigment epithelium. Arch Ophthalmol. 1977;95(3):429-35. 4. Rahman N, Georgiou M, Khan KN, Michaelides M. Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options. Br J Ophthalmol. 2020;104(4):451-60. 5. Vaclavik V, Tran HV, Gaillard MC, Schorderet DF, Munier FL. Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections. Retina. 2012;32(9):1942-9. 6. Shankar SP, Birch DG, Ruiz RS, Hughbanks-Wheaton DK, Sullivan LS, Bowne SJ, et al. Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies. JAMA Ophthalmol. 2015;133(5):511-7. 7. Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008;27(2):213-35. 8. Gass JD. A Clinicopathologic Study of a Peculiar Foveomacular Dystrophy. Trans Am Ophthalmol Soc. 1974;72:13-56. 9. Gass JD. Stereoscopic Atlas of Macular Diseases. Vol 2. 4th Edition, St Louis; Mosby; 1997; 314-325 10. Chowers I, Tiosano L, Audo I, Grunin M, Boon CJ. Adult-onset foveomacular vitelliform dystrophy: A fresh perspective. Prog Retin Eye Res. 2015;47:64-85. 11. Tiosano L, Grunin M, Hagbi-Levi S, Banin E, Averbukh E, Chowers I. Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy. Br J Ophthalmol. 2016;100(11):1476- 81. 12. Hanif AM, Yan J, Jain N. Pattern Dystrophy: An Imprecise Diagnosis in the Age of Precision Medicine. Int Ophthalmol Clin. 2019;59(1):173-94. 13. Querques G, Forte R, Querques L, Massamba N, Souied EH. Natural course of adult-onset foveomacular vitelliform dystrophy: a spectral-domain optical coherence tomography analysis. Am J Ophthalmol. 2011;152(2):304-13. 14. Puche N, Querques G, Benhamou N, Tick S, Mimoun G, Martinelli D, et al. High-resolution spectral domain optical coherence tomography features in adult onset foveomacular vitelliform dystrophy. Br