Ophthalmic genetics is a field that has been rapidly evolving over the last decade, mainly due to the flourishing of translational medicine for inherited retinal diseases (IRD). In this review, we will address the different methods by which retinal structure can be objectively and accurately assessed in IRD. We review standard-of-care imaging for these patients: colour fundus photography, fundus autofluorescence imaging and optical coherence tomography (OCT), as well as higher-resolution and/or newer technologies including OCT angiography, adaptive optics imaging, fundus imaging using a range of wavelengths, magnetic resonance imaging, laser speckle flowgraphy and retinal oximetry, illustrating their utility using paradigm genotypes with on-going therapeutic efforts/trials.

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Öz Purpose: The aim of this study was to evaluate the effectiveness of intravitreal DEX implant injection in the treatment of macular edema due to four different etiologies. Materials and Methods: This is a retrospective and case control study. A total of 177 patients who underwent intravitreal DEX implant between 2014 and 2018 for four different etiologies, which are diabetic retinopathy (DR), branch retinal vein occlusion (BRVO), central retinal vein occlusion (CRVO) and posterior uveitis (PU), were included in the study. Best-corrected visual acuity (BCVA) and central macular thickness (CMT) were evaluated in pre-injection, 1st, 3rd, and 6th months post-injection. Results: Eighty-one patients (45.8%) had DR, 44 (24.9%) had BRVO, 35 (19.8%) had CRVO, and 17 (9.6%) had PU. There was a statistically significant difference in BCVA in the DR, BRVO and PU groups after the injection, but no significant difference was observed in the CRVO group. It is observed that there was a statistically significant decrease in CMT in all groups after the injection. The change in CMT in the 1st month was 153.4 ± 137 µm in the DR group, 161.1 ± 151 µm in the BRVO, 270.5 ± 189 µm in the CRVO and 142.2 ± 174 µm in the PU group. Conclusion: The intravitreal DEX implant reduces the CMT in patients with macular edema secondary to various etiologies and improves BCVA in patients with macular edema secondary to various etiologies except for patients with CRVO. Amaç: Dört farklı etyolojiye bağlı gelişen maküler ödeminin tedavisinde intravitreal DEX implant enjeksiyonunun etkinliğini değerlendirmek. Gereç ve Yöntem: Bu bir retrospektif vaka kontrol çalışmasıdır. Bu çalışmaya 2014-2018 arasında diyabetik retinopati (DR), branş retinal ven oklüzyonu (BRVO), santral retinal ven oklüzyonu (CRVO) ve posterior üveit (PU) olmak üzere dört farklı etiyolojiden köken alan intravitreal DEX implant uygulaması yapılmış 177 hasta dahil edilmiştir. En iyi düzeltilmiş vizüel aküite (BCVA) ve merkezi makula kalınlığı (CMT) enjeksiyon öncesi, enjeksiyon sonrası 1., 3. ve 6. aylarda değerlendirildi. Bulgular: Seksen bir hastada DR (%45.8), 44 BRVO (%24.9), 35 CRVO (%19.8) ve 17 PU (%9.6) vardı. Enjeksiyondan sonra DR, BRVO ve PU gruplarında BCVA'da istatistiksel olarak anlamlı bir fark vardı, ancak CRVO grubunda anlamlı bir fark gözlenmedi.. Enjeksiyondan sonra tüm gruplarda CMT'de istatistiksel olarak anlamlı bir azalma olduğu gözlenmiştir. Bir ayda CMT'deki değişiklik DR grubunda 153.4 ± 137 µ m, BRVO'da 161.1 ± 151 µ m, CRVO'da 270.5 ± 189 µ m ve PU grubunda 142.2 ± 174 µ m idi. Sonuç: İntravitreal DEX implantı, çeşitli etiyolojilere sekonder maküler ödemli hastalarda CMT'yi azalttığı, CRVO olan hastalar hariç çeşitli etiyolojilere ikincil olarak maküler ödemli hastalarda BCVA'yı iyileştirdiği sonucuna varılmıştır.