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Journals / Güncel Retina Dergisi / 2021 / Cilt: 5 - Sayı: 2

Retinitis Pigmentosa: Atypical Presentations and Systemic Associations

Retinitis Pigmentosa; Atipik Prezentasyon ve Sistemik Birliktelikler

Havvanur BAYRAKTAR
İbrahim Arif KOYTAK
Pages
113–122
DOI
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AI Summary & Key Takeaways

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

However, 15–20% of patients with RP present with a syndromic form of RP associated with extra-ocular abnormalities.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Retinitis pigmentosa (RP) is a group of hereditary retinal disorders characterized by progressive dysfunction of photoreceptors and pigment epithelial cells.
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Key Findings & Data:RP is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes.
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Conclusion & Impact:However, 15–20% of patients with RP present with a syndromic form of RP associated with extra-ocular abnormalities.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Retinitis pigmentosa (RP) is a group of hereditary retinal disorders characterized by progressive dysfunction of photoreceptors and pigment epithelial cells. RP is a clinically heterogenous disease that comprises a wide range of phenotypic and genetic subtypes. The clinical manifestation of RP is predominantly confined to the eye and the retina. However, 15–20% of patients with RP present with a syndromic form of RP associated with extra-ocular abnormalities.

Özet

Retinitis pigmentosa (RP), fotoreseptörlerin ve pigment epitel hücrelerinin progresif disfonksiyonu ile karakterize kalıtsal retina bozukluklarının bir grubudur. RP, çok çeşitli fenotipik ve genetik alt tipleri içeren, klinik olarak heterojen bir hastalıktır. RP’nin klinik görünümü ağırlıklı olarak göz ve retina ile sınırlıdır. Bunula birlikte, RP’li hastaların% 15-20’si ekstraoküler anormalliklerle ilişkili sendromik bir RP formu ile başvurur.

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Cite This Article

BAYRAKTAR, H., KOYTAK, İ. A. (2021). Retinitis Pigmentosa: Atypical Presentations and Systemic Associations. Güncel Retina Dergisi, Cilt: 5 - Sayı: 2, 113–122. https://ajindex.com/articles/219673

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