Kornea Distrofileri
Özet
Kornea distrofileri, korneanın farklı tabakalarını etkileyen, iki taraflı, simetrik, genellikle hayatın erken dönemlerinde başlayan, yavaş ilerleyen ve inflamasyonun eşlik etmediği genetik hastalıklardır. Klasik anatomik sınıflama hastalıkları anterior, stromal ve endotelyal distrofiler olarak üçe ayırırken; 2008 ve 2015 yıllarında güncellenen Uluslararası Kornea Distrofisi Sınıflaması (IC3D) ise fenotip, patoloji ve genetik özelliklere göre dört ayrı kategori belirlemiştir. Epitelyal ve subepitelyal distrofilerde fotofobi, irritasyon ve sulanma gibi semptomlar sık görülürken, en sık rastlanılan tür Epitelyal Bazal Membran Distrofisidir. TGFBI geniyle ilişkili epitelyal-stromal distrofilerde rekürren korneal erozyonlar ve keratoplasti sonrası nüksler belirgindir. Stromal distrofiler arasında Maküler, Schnyder ve Konjenital stromal distrofiler yer alırken; endotelyal distrofilerin başında gelen Fuchs endotelyal kornea distrofisi kadınlarda daha sık görülür ve kornea gutta ile karakterizedir. Tedavi, hastalığın evresine ve ciddiyetine göre suni gözyaşları, fototerapötik keratektomi (PTK) veya çeşitli lameller/penetran keratoplasti cerrahileriyle yürütülür. Gelecekte CRISPR/Cas9 gibi gen tedavilerinin özellikle mutant genleri tamir etmede etkili olabileceği öngörülmektedir.
Corneal dystrophies are bilateral, symmetric, slowly progressive, non-inflammatory genetic disorders that typically present early in life and affect various layers of the cornea. While the classical anatomical classification divides these disorders into three groups as anterior, stromal, and endothelial dystrophies, the International Committee for Classification of Corneal Dystrophies (IC3D), updated in 2008 and 2015, established four distinct categories based on phenotypic, pathological, and genetic criteria. Epithelial and subepithelial dystrophies frequently cause symptoms such as photophobia, irritation, and tearing, with Epithelial Basement Membrane Dystrophy being the most common type. Epithelial-stromal dystrophies associated with the TGFBI gene are characterized by recurrent corneal erosions and a high recurrence rate after keratoplasty. Stromal dystrophies include Macular, Schnyder, and Congenital stromal dystrophies, whereas Fuchs endothelial corneal dystrophy, the leading endothelial dystrophy, is more common in women and characterized by cornea guttata. Treatment is tailored to disease severity, utilizing artificial tears, phototherapeutic keratectomy (PTK), or various lamellar and penetrating keratoplasty techniques, while future gene therapies like CRISPR/Cas9 hold promise for repairing mutant genes.
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