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Journals / Balıkesir Sağlık Bilimleri Dergisi / 2026 / Volume: 15 Issue: 1

Multimodal Imaging and Electrophysiological Features of Genetically Confirmed Inherited Retinal Dystrophies

Genetik Olarak Doğrulanmış Kalıtsal Retina Distrofilerinin Multimodal Görüntüleme ve Elektrofizyolojik Özellikleri

Gozde Sahın Vural(BALIKESİR ÜNİVERSİTESİ, TIP FAKÜLTESİ, TIP PR.)0000-0002-6989-4378
Hamıde Betul Gerik Celebi(Balıkesir Atatürk Şehir Hastanesi)0000-0001-5218-7880
Hilmi Bolat(BALIKESİR ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0001-6574-8149
Pages
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Publication Date
2026-02-28
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AI Summary & Key Takeaways

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

Conclusion: Although the patients with IRDs occur in the similar phenotype, they may have dissimilar genetic properties and ophtalmic findings.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: This study aimed to evaluate the relationship between ophthalmic features and genetic causes of inherited retinal disorders (IRDs).
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Key Findings & Data:Results: The study included 56 eyes of 28 patients with IRDs with a mean age of 34.17±17.88 years.
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Conclusion & Impact:Conclusion: Although the patients with IRDs occur in the similar phenotype, they may have dissimilar genetic properties and ophtalmic findings.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Electroretinography · Genetic Counceling · Retinal Dystrophies

Abstract

Objective: This study aimed to evaluate the relationship between ophthalmic features and genetic causes of inherited retinal disorders (IRDs). Materials and Methods: The patients who were diagnosed as IRDs were included, and divided into two groups: central and peripheral retinal dystrophy. The optic coherence tomography-angiography (OCT-A), and optic nerve head angiography were completed. The patients were referred to the Department of Genetics for a targeted exome sequencing. Results: The study included 56 eyes of 28 patients with IRDs with a mean age of 34.17±17.88 years. There was central retinal dystrophy in 50% of cases; while, peripheral retinal dystrophy was in 50% of cases. The most frequently detected gene mutation was ABCA4 (28.5%), followed by CRB1 (10.7%) and MFSD8, RPE65, and USH2A (each 7.1%). Other mutations included BEST1, LYST, MERTK, PDE, PROM1, RDH12, RHO (OPN2), RP9, and SPATA7 (each 3.5%). Electrophysiology supported functional characterization; however, ERG responses were frequently nonrecordable in advanced peripheral dystrophy, limiting quantitative comparisons between groups. In OCT-A, the macular superficial vessel density was significant (central 18.0±10.7µ, peripheral 43.0±10.3µ; p=0.003); while, there was no difference in optic nerve head angiography (p>0.05 in all quadrants). Conclusion: Although the patients with IRDs occur in the similar phenotype, they may have dissimilar genetic properties and ophtalmic findings.

Özet

Amaç: Bu çalışma, kalıtsal retina distrofi (KRD) tanısı olan hastalarda oftalmik özellikler ile genetik etiyoloji arasındaki ilişkiyi değerlendirmeyi amaçlamaktadır. Gereç ve Yöntem: KRD tanısı alan hastalar çalışmaya dahil edildi ve iki gruba ayrıldı: santral retina distrofileri ve periferik retina distrofileri. Tüm hastalara optik koherens tomografi anjiyografi (OCT-A) ve optik sinir başı anjiyografisi uygulandı. Genetik nedenlerin belirlenmesi amacıyla Tıbbi Genetik Anabilim Dalı tarafından hedefe yönelik ekzom dizileme yapıldı. Bulgular: Toplamda 28 hastaya ait 56 göz (ortalama yaş: 34.17±17.88 yıl) çalışmaya dahil edildi. Hastaların %50’sinde santral, %50’sinde periferik retina distrofisi saptandı. En sık tespit edilen gen mutasyonu ABCA4 (%28.5) idi; bunu CRB1 (%10.7), MFSD8, RPE65 ve USH2A (her biri %7.1) takip etti. Diğer mutasyonlar arasında BEST1, LYST, MERTK, PDE, PROM1, RDH12, RHO (OPN2), RP9 ve SPATA7 (her biri %3.5) yer aldı. Elektrofizyoloji fonksiyonel karakterizasyonu destekledi; ancak, ileri periferik distrofide ERG yanıtları sıklıkla kaydedilemedi, bu da gruplar arasında niceliksel karşılaştırmaları sınırladı. OCT-A analizinde, santral retina distrofisi grubunda maküler yüzeyel damar yoğunluğu periferik gruba göre anlamlı derecede daha düşüktü (18.0±10.7 µm vs. 43.0±10.3 µm; p = 0.003). Optik sinir başı perfüzyonunda ise gruplar arasında anlamlı bir fark izlenmedi (tüm kadranlarda p > 0.05). Sonuç: KRD’li hastalar benzer klinik fenotiplerle başvursalar da, farklı genetik altyapılara ve oftalmik görüntüleme bulgularına sahip olabilirler.

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Cite This Article

Vural, G. S., Celebi, H. B. G., Bolat, H. (2026). Multimodal Imaging and Electrophysiological Features of Genetically Confirmed Inherited Retinal Dystrophies. Balıkesir Sağlık Bilimleri Dergisi, Volume: 15 Issue: 1. https://doi.org/10.53424/balikesirsbd.1757960

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