Outcomes and comparative analysis of therapeutic approaches for choroidal neovascular membranes associated with optic nerve head drusen in pediatric patients.

Background: Choroidal neovascular membranes (CNVM) associated with optic nerve head drusen (ONHD) are rare but vision threatening. A variety of treatments, including laser photocoagulation, subretinal surgery, and anti-VEGF injections, are effective but pose risks, particularly in pediatric patients, underscoring the need for a comprehensive review.

Methods: A systematic review was conducted using PubMed, Embase, and Web of Science.

Hereditary Vitreoretinopathies: Molecular Diagnosis, Clinical Presentation and Management.

Hereditary vitreoretinopathies (HVRs), also known as hereditary vitreoretinal degenerations comprise a heterogeneous group of inherited disorders of the retina and vitreous, collectively and variably characterised by vitreal abnormalities, such as fibrillary condensations, liquefaction or membranes, as well as peripheral retinal abnormalities, vascular changes in some, an increased risk of retinal detachment and early-onset cataract formation. The pathology often involves the vitreoretinal interface in some, while the major underlying abnormality is vascular in others. Recent advances in molecular diagnosis and identification of the responsible genes and have improved our understanding of the pathogenesis, risks and management of the HVRs.

BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.

Purpose: Best vitelliform macular dystrophy is an inherited macular dystrophy associated with over 250 pathogenic variants of the Bestrophin-1 ( BEST1 ) gene. Although several types of lesions of best vitelliform macular dystrophy are well-described, reports of phenotypic variations associated with rare genetic variants are limited.

Methods: This was a retrospective case series performed in 2021 at a tertiary eye care center.

Prognostic Role of Specific Mutations Detected in Aspiration and Liquid Biopsies from Patients with Pancreatic Cancer.

Although the overall survival prognosis of patients in advanced stages of pancreatic ductal adenocarcinoma (PDAC) is poor, typically ranging from days to months from diagnosis, there are rare cases of patients remaining in therapy for longer periods of time. Early estimations of survival prognosis would allow rational decisions on complex therapy interventions, including radical surgery and robust systemic therapy regimens. Understandably, there is great interest in finding prognostic markers that can be used for patient stratification.