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

Best Vitelliform Dystrophy; Pathophysiology, Findings, Diagnosis, and Treatment

Best Vitelliform Distrofi; Patofizyoloji, Bulgular, Tanı ve Tedavi

Özge YANIK
Figen ŞERMET
Pages
201–207
DOI
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AI Summary & Key Takeaways

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

The aim of this review is to summarize the possible etiopathogenesis, examination findings, imaging and electrophysiology characteristics, and treatment approaches of Best vitelliform dystrophy in the light of current literature.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Best vitelliform dystrophy is the second most common hereditary macular dystrophy.
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Key Findings & Data:The BEST1 gene is located on the long arm of the 11th chromosome and is responsible for the production of a transmembrane protein called bestrophin-1.
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Conclusion & Impact:The aim of this review is to summarize the possible etiopathogenesis, examination findings, imaging and electrophysiology characteristics, and treatment approaches of Best vitelliform dystrophy in the light of current literature.
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Best vitelliform dystrophy is the second most common hereditary macular dystrophy. It is an early-onset, progressive disease with autosomal dominant inheritance. The BEST1 gene is located on the long arm of the 11th chromosome and is responsible for the production of a transmembrane protein called bestrophin-1. The disease takes its name from the classic egg yolk-like macular lesion. Its histopathology shows increased lipofuscin in retinal pigment epithelium (RPE), photoreceptor loss, subRPE deposits, and cell and material accumulation in the subretinal area. As long as complications such as choroidal neovascularization, macular scar and geographical atrophy do not develop, the disease has relatively good prognosis. The aim of this review is to summarize the possible etiopathogenesis, examination findings, imaging and electrophysiology characteristics, and treatment approaches of Best vitelliform dystrophy in the light of current literature.

Özet

Best vitelliform distrofi, ikinci en sık görülen herediter makula distrofisidir. Erken başlangıçlı, ilerleyici, otozomal dominantgeçişlidir. BEST1 geni 11. kromozomun uzun kolunda yer alır ve bestrofin-1 adlı transmembran proteininin üretimindensorumludur. Hastalık adını klasik yumurta sarısı görünümlü makula lezyonundan almaktadır. Histopatolojisinde artmış retina pigment epiteli (RPE) lipofusini, fotoreseptör kaybı, subRPE birikintiler ve subretinal alanda hücre ve materyal birikimimevcuttur. Koroid neovaskülarizasyonu, makula skarı ve coğrafi atrofi gibi komplikasyonlar gelişmediği sürece iyi seyirlidir.Bu derlemenin amacı güncel literatür bilgilerinin ışığı altında, Best vitelliform distrofisinin olası etyopatogenezini, muayenebulgularını, görüntüleme ve elektrofizyoloji özelliklerini ve tedavi yaklaşımını özetlemektir.

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Cite This Article

YANIK, Ö., ŞERMET, F. (2021). Best Vitelliform Dystrophy; Pathophysiology, Findings, Diagnosis, and Treatment. Güncel Retina Dergisi, Cilt: 5 - Sayı: 3, 201–207. https://ajindex.com/articles/347953

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