ÖZ
Amaç
Bu çalışmanın amacı, Türkiye’de tek bir merkezden gelatinöz damla benzeri kornea distrofisi (GDLD) tanısı alan hastalarda klinik ve genetik bulgular ile tedavi sonuçlarını tanımlamaktır.
Yöntemler
Bu retrospektif çalışmaya, Gazi Üniversitesi Tıp Fakültesi Göz Hastalıkları Anabilim Dalı’nda klinik olarak GDLD tanısı konulan beş aileden 10 hasta dâhil edildi. Genetik analiz, tümörle ilişkili kalsiyum sinyal transdüseri 2 (TACSTD2) geninin kodlayıcı bölgeleri ile transforming growth factor-beta-induced (TGFBI) geninin 4. ve 12. ekzonlarının Sanger dizilemesi ile gerçekleştirildi. Klinik bulgular, uygulanan tedavi yöntemleri ve takip sonuçları kaydedildi.
Bulgular
Üç ailede, biri yeni (c.779del, p.Tyr260SerfsTer11) ve ikisi daha önce bildirilmiş c.355T>A (p.C119S) ve c.341T>G (p.F114C) üç TACSTD2 mutasyonu saptandı. Bir ailede ise ne TGFBI ne de TACSTD2 genlerinde hastalıkla ilişkili herhangi bir varyant tespit edilmedi. En sık görülen başlangıç semptomları fotofobi, kornea ağrısı ve bulanık görme olup, ortalama başlangıç yaşı 11,3 yıl idi. Takip süresi 2 ile 21 yıl arasında değişmekteydi ve yedi hastada tekrarlayan cerrahi girişimler gerekmişti. Yedi hastaya epitel debridmanı sonrası elmas freze ile polisaj (ED-DBP) uygulanmış; bu işlem semptomatik iyileşme sağlamış ve keratoplasti gereksinimini geciktirmiştir.
Sonuç
Bu çalışma, Orta Anadolu’dan bildirilen GDLD hastalarının klinik ve genetik özelliklerine ilişkin ilk rapor olup, TACSTD2 mutasyon spektrumunu yeni bir varyant ile genişletmektedir. ED-DBP, GDLD için bir tedavi seçeneği olarak önerilmektedir; hastalığın ilerlemesini durdurmasa da korneal rahatsızlığı azaltabilir, görmeyi geçici olarak iyileştirebilir ve kornea transplantasyonunu erteleyebilir.
Anahtar Kelimeler:
Gelatinöz damla benzeri kornea distrofisi, elmas freze ile epitel debridmanı, TACSTD2, Sanger dizileme, keratoplasty
Kaynaklar
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