Genetic Background of Macular Telangiectasia Type 2.

Macular telangiectasia type 2 (MacTel) is a slowly progressive macular disorder that is often diagnosed late due to the gradual onset of vision loss. Recent advances in diagnostic techniques have facilitated earlier detection and have shown that MacTel is more common than initially thought. The disease is genetically complex, and multiple variants contribute incrementally to the overall risk.

A stepwise implementation of the Slovenian National Diabetic Retinopathy Screening Program - evaluation of the first 4.5 years.

Background: This retrospective cohort study aimed to assess the characteristics of patients enrolled in the national diabetic retinopathy (DR) screening program and evaluate the selected program's quality elements in the first five years after implementation.

Methods: Patients who underwent DR screening between February 2018 and June 2022 at the University Medical Centre Ljubljana were included. General patient characteristics (age, sex, type and therapy of diabetes mellitus (DM), duration of DM, blood HbA1c levels), best corrected visual acuity, stage of DR, presence of sight-threatening diabetic retinopathy (STDR), and selected quality indicators (quality of photographs, re-screening interval, time to treatment) were recorded and evaluated.

VISUAL OUTCOMES IN PATIENTS WITH DIABETIC MACULAR EDEMA TREATED WITH DEXAMETHASONE IMPLANT IN ROUTINE CLINICAL PRACTICE.

The aim was to evaluate visual outcomes of the real-life usage of dexamethasone (DEX) implants in diabetic macular edema (DME) patients and evaluate the possible additional visual acuity (VA) gain with combined treatment. We retrospectively reviewed medical records of DME patients treated with DEX implants. The mean best-corrected visual acuity (BCVA) and mean central retinal thickness (CRT) at baseline and one year were compared.

The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis.

Von Hippel-Lindau disease (VHL disease or VHL syndrome) is a familial multisystem neoplastic syndrome stemming from germline disease-associated variants of the tumor suppressor gene on chromosome 3. VHL is involved, through the EPO-VHL-HIF signaling axis, in oxygen sensing and adaptive response to hypoxia, as well as in numerous HIF-independent pathways. The diverse roles of VHL confirm its implication in several crucial cellular processes.