Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.

Unlabelled: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder characterized by a deficiency in the enzyme glutaryl-CoA dehydrogenase. This study aims to present the clinical, biochemical, genetic, and neuroimaging findings of GA1 patients, emphasizing the importance of early detection and the potential benefits of incorporating GA1 into NBS programs. The demographic, clinical, and laboratory findings of GA1 patients were reviewed retrospectively.

Novel Multimodal Imaging in Bilateral Diffuse Uveal Melanocytic Proliferation and Change in the Findings During Follow-up and Treatment.

Purpose: To describe the advanced multimodal imaging findings of patients with bilateral diffuse uveal melanocytic proliferation (BDUMP) and the changes in these findings over time.

Methods: Fundus photography, fundus autofluorescence (FAF), fundus fluorescein angiography (FA), spectral domain optical coherence tomography (OCT), B-scan ultrasonography (US), and ultrasound biomicroscopy (UBM) images of the patients diagnosed with BDUMP at a single institution between years 2006-2023 were evaluated.

Results: Sixteen eyes of 8 patients with BDUMP were included.

Turkish Retinoblastoma Research: A Bibliometric Analysis (1966-2024).

Objectives: To conduct the first bibliometric analysis of retinoblastoma research in Türkiye and identify leading institutions, authors, collaboration patterns, and potential growth areas.

Materials And Methods: We conducted a search on international databases (Web of Science [WoS] and Scopus), a national database (TR Dizin), and gray literature sources (thesis/Scientific and Technological Research Council of Türkiye project reports). Data were cleaned and analyzed using bibliometric tools, including Open Refine and VOSviewer.

Real-life neovascular AMD treatment considering reimbursement in Turkiye: One-year comparison of switching to intravitreal ranibizumab or aflibercept after treatment failure with three loading intravitreal bevacizumab injections.

Objective: To compare one-year anatomical and functional results of switching to an on-label intravitreal anti-vascular endothelial growth factor (anti-VEGF) agent (intravitreal ranibizumab [IVR] or aflibercept [IVA]) after treatment failure with three loading doses of off-label intravitreal bevacizumab (IVB), which is mandatory in the treatment of neovascular age-related macular degeneration (nAMD) to get reimbursement from Social Security Institution in Turkiye.

Methods: This comparative, real-life, retrospective cohort study included treatment-naïve nAMD patients treated starting with three loading doses of IVB, switched to three loading doses of IVR and IVA due to treatment failure after IVB loading, and followed up one year with a treat-and-extend (T&E) protocol with 2-week extension/shortening intervals. The primary outcomes were changes in best-corrected visual acuity (BCVA; logMAR) and central macular thickness (CMT, µm) one year after the switch, and the secondary outcomes were maximum treatment intervals, number of injections, and disease activity rates.