ABSTRACT This update article aims to discuss gene therapies under study for retinal diseases, mainly among the different inherited retinal dystrophies. Inherited retinal dystrophies are considered rare diseases, some are ultra-rare. The use of Luxturna, which was approved by the FDA in 2017 and by Anvisa in 2020, changed the natural history of the retinopathy associated with biallelic variants in RPE65 gene and was a major milestone in ophthalmology. There are still many challenges for this new therapeutic modality, which […]

ABSTRACT Leber’s Hereditary Optic Neuropathy (LHON) is an inherited neurodegenerative mitochondrial disease. The potential rate of spontaneous recovery is controversial in the literature. Gene therapy has been studied to support patients. The objective of this review was to qualitatively assess the safety, adverse effects, and efficacy of available gene therapy. This is a systematic review of articles indexed in PubMed®, VHL, SciELO, Cochrane, ScienceDirect, Scopus, and Lilacs databases, in the first half of 2021. Inclusion criteria and filters were: articles […]

ABSTRACT Objective: A scientometric analysis produced in ophthalmic genetics and gene therapy research is lacking. The purpose of this study is to present a holistic analysis of ophthalmic genetics literature. Methods: The data used in this study were obtained from the Web of Science (WoS) Core Collection. All published documents between 1975-2019 were included. The data exported from WoS enabled the extensive details of ophthalmic genetics related literature including countries, institutions, authors, citations and keywords. Scientometric network maps of keywords […]

Scientific research is traditionally divided into two categories: basic research and applied research. Basic research is needed to provide a better understanding of disease, but not directly translating that knowledge into useful clinical application. Translational research would be the advancement of science applied to the development of new diagnostic tests, drugs and or intervention techniques for patients with established understanding of disease development and progression. The main goal of translational research is to integrate advances in biotechnology, clinical trials, boosting […]