Pseudoxanthoma Elasticum and Angioid Streaks

Abstract

Title of thesis: Pseudoxanthoma Elasticum and Angioid Streaks Aim: To conduct a thorough literature review about the pathophysiology and treatment options of pseudoxanthoma elasticum (PXE) and angioid streaks (AS). Objectives: 1. To investigate the etiology and pathophysiology of PEX and AS. 2. To assess the therapeutic approaches and management strategies. 3. To analyze the potential complications of the disease and the available treatment options. Background: Pseudoxanthoma elasticum is a rare, autosomal recessive, metabolic, genetic disease that results in ectopic mineralization in the eyes, skin, and blood vessels. In the eyes, the mineralization often results in the formation of angioid streaks, which, if left untreated, can progress to impaired vision and blindness. Methodology: This literature review was conducted from December 2023 to April 2024. It focuses on articles about pseudoxanthoma elasticum and Angioid streaks. The search for different articles was done using different databases: “PubMed”,” Google Scholar” ,and "ScienceDirect”. A total of 53 articles were included in this literature review. Results: This thesis reviewed the literature about PXE, a rare genetic disorder, and its complications, specifically angioid streaks. The findings demonstrated that, despite PXE rarity and complexity, effective treatment options for PXE complications are available. Multiple studies have shown that early treatment with anti-VEGF intravitreal injections is a safe and effective way to treat choroidal neovascularization caused by angioid streaks. Furthermore, several medications, supplements, and gene therapy approaches have shown promising results in both animal and human models. Conclusion: PXE is a challenging condition with diverse symptoms and intricate pathophysiology and inheritance patterns. However, there is optimism that a cure may be discovered in the future, most likely through gene therapy. Currently there is a safe and effective treatment for AS that is available that is very helpful for PXE patients at high risk of irreversible vision impairment.