Maküler Telenjiektazi Tip 2
Özet
Maküler telenjiektazi (MacTel) tip 2, nedeni bilinmeyen, bilateral, nörodejeneratif bir makula hastalığıdır. Genellikle yaşamın beşinci veya altıncı on yılında spesifik olmayan görme bulanıklığı, okuma güçlüğü ve metamorfopsi gibi semptomlarla başlar. Hastalığın erken evrelerinde fovea temporalinde retina şeffaflığının kaybı, grileşme ve kristalimsi birikintiler gözlenir. İlerleyen dönemlerde dik açılı damarlar, intraretinal siyah pigment plakları ve hızlı görme kaybına yol açabilen subretinal neovasküler membran (SRNV) gelişimi görülebilir. Teşhiste fundus fluoresein anjiyografi (FFA), optik koherens tomografi (OCT) ve OCT anjiyografi gibi multimodal görüntüleme teknolojileri kritik öneme sahiptir. Yapılan çalışmalar, en erken vasküler değişikliklerin dış derin kapiller pleksusta başladığını ve zamanla Müller hücrelerinde dejenerasyon ile elipsoid zon kaybının eşlik ettiğini göstermiştir. Patofizyolojisinin tam olarak aydınlatılamamış olması tedaviyi sınırlandırmaktadır. Nonproliferatif evrede maküler lazer, intravitreal triamsinolon ve anti-VEGF tedavilerinin fayda sağlamadığı saptanmıştır. Buna karşın, proliferatif evrede anti-VEGF ajanların kullanımı etkilidir. Günümüzde nörodejeneratif süreci engellemeye yönelik siliyer nörotrofik faktör (CNTF) gibi nöroprotektif ajanlar üzerine çalışmalar devam etmektedir.
Macular telangiectasia (MacTel) type 2 is a bilateral, neurodegenerative macular disease of unknown etiology. It typically manifests in the fifth or sixth decade of life with non-specific symptoms such as mild blurred vision, reading difficulties, and metamorphopsia. In the early stages of the disease, loss of retinal transparency, grayish discoloration in the temporal fovea, and crystalline deposits are observed. As the disease progresses, right-angled vessels, intraretinal black pigment plaques, and the development of a subretinal neovascular membrane (SRNV) that can cause rapid vision loss may occur. Multimodal imaging technologies such as fundus fluorescein angiography (FFA), optical coherence tomography (OCT), and OCT angiography are critical for diagnosis. Studies have demonstrated that the earliest vascular alterations initiate in the outer deep capillary plexus, subsequently accompanied by the degeneration of Müller cells and the loss of the ellipsoid zone. The primary limitation in treatment is the lack of comprehensive knowledge regarding the underlying pathophysiological mechanisms. Modalities including macular laser, intravitreal triamcinolone, and anti-VEGF therapies have shown no benefit in the nonproliferative stage. Conversely, anti-VEGF agents are effective in the proliferative stage. Currently, neuroprotective agents such as ciliary neurotrophic factor (CNTF) aimed at preventing the neurodegenerative process are being investigated.
Referanslar
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