فهرست مطالب eleftherios loukovitis

The most frequent primary ocular malignancy in the western world is the uveal melanoma. While it mainly affects Caucasians, it is extremely uncommon among non-Caucasians. Continuous improvement in therapies for local treatment has allowed sparing of the eye, although this approach apparently does not improve survival. The present review aimed to explain different radiotherapy (RT) methods and compare the pros and cons of each method, along with the main complications that may be encountered in the treatment of uveal melanoma.

Relevant papers published between September 2009 and January 2021 were retrieved, reviewed, and screened. Four databases, including PubMed, MEDLINE, Google Scholar, and GeneCards, were searched for this purpose.

Forty-one relevant articles were identified. Based on the selected papers, we highlighted the advantages and disadvantages of the different RT methods that have allowed sparing of the eye, even though they have not, as yet, improved survival. We listed a detailed comparison between therapies that allow an educated choice among the different available RT methods.

The choice of uveal melanoma management is determined by the location of the tumor and volume of the extraocular extent. At present, there is no gold standard for the management of all ocular melanomas, and each case should be approached individually. Therefore, classification is a valuable prognostic tool. Many cases in cT3-4 classification categories are treated by primary enucleation and conservative treatment follow-up, while in cT2 and most cT1 classifications (i.e., 3.1–6.0-mm tumor thickness), several forms of RT are used.

Retinitis pigmentosa (RP), an inherited degenerative ocular disease, is considered the most common type of retinal dystrophy. Abnormalities of the photoreceptors, particularlythe rods, and of the retinal pigment epithelium, characterizes this disease. The abnormalities progress from the midperiphery to the central retina. We herereviewedthe developments in RP geneticsin the last decade, along with its clinical features and natural course.

The present review focused on articles in English language published between January 2008 and February 2020, and deposited inPubMed/MEDLINEand Google Scholar databases.We searched for articles reporting on theclinical manifestations and genes related to both syndromic and non-syndromic RP. We screened and analyzed 139 articles,published in the last decade, referring to RP pathogenesis and identified, summarized,and highlightedthe most significant genes implicated in either syndromic or non-syndromic RP pathogenesis, causing different clinical manifestations.

Recent literature revealed that approximately 80 genes are implicated in non-syndromic RP,and 30 genes in syndromic forms, such as Usher syndrome and Bardet‒Biedl syndrome (BBS). Moreover, it is estimated that 27 genes are implicatedinautosomal dominant RP (adRP), 55 genes in autosomal recessive RP (arRP),and 6 genes in X-linked RP (xlRP), causing different RP phenotypes. Characteristically, RHOis the most prevalent adRP-and arRP-causinggene,and RPGRthe most common xlRP-causing gene.Other important genes are PRPH2, RP1, CRX, RPE65, ABCA4, CRB1,and USH2Α. However, different phenotypes canalsobe caused by mutations in the same gene.

The genetic heterogeneity of RP necessitates further study to map the exact mutations that cause more severe forms of RP,and to develop and use appropriate genetic or other effective therapies in future.

Epiretinal membrane (ERM) is a pathologic tissue that develops at the vitreoretinal interface. ERM is responsible for pathological changes of vision with varying degrees of clinical significance. It is either idiopathic or secondary to a wide variety of diseases such as proliferative diabetic retinopathy (PDR) and proliferative vitreoretinopathy (PVR). A great variation in the prevalence of idiopathic ERM among different ethnic groups proposed that genetic and lifestyle factors may play a role in ERM occurrence. Histopathological studies demonstrate that various cell types including retinal pigment epithelium (RPE) cells, fibrocytes, fibrous astrocytes, myofibroblast-like cells, glial cells, endothelial cells (ECs) and macrophages, as well as trophic and transcription factors, including transforming growth factor (TGF), vascular endothelial growth factor (VEGF), platelet-derived growth factor (PDGF) etc., are directly or indirectly involved in the pathogenesis of  idiopathic or secondary ERMs. These processes are driven (on the last count) by more than 50 genes, such as Tumor Necrosis Factor (TNF), CCL2 ((chemokine (C-C motif) ligand 2)), MALAT1, transforming growth factor (TGF)-β1, TGF-β2, Interleukin-6 (IL-6), IL-10, VEGF and glial fibrillary acidic protein (GFAP), some of which have been studied more intensely than others. The present paper tried to summarize, highlight and cross-correlate the major findings made in the last decade on the function of these genes and their association with different types of cells, genes and gene expression products in the ERM formation.