International Journal of Medicine Research

International Journal of Medicine Research


International Journal of Medicine Research
International Journal of Medicine Research
Vol. 5, Issue 4 (2020)

Retinal attachment to genetics


Sinan Mohammed Tawfiq Azeez Alfattah, Moayyiad Aaid Khalel Ibrahim, Muthanna Tareq Sedeeq Alkhiro

The retina, an essential part of brain associated with vision production and transmission, is susceptible to a variety of diseases. Among these diseases, inherited retinal degeneration (IRD) affects ~1 in 2000-3000 Individuals worldwide and is the leading cause of visual loss in young people. It includes retinitis pigmentosa, Usher syndrome, Leber congenital amaurosis, macular degeneration and other retinaldisorders. Till now, tremendous efforts have been made on the study of the causality of IRD, and a large amount of mutations as well as IRD related genes have been identified. It was reported that one of the most striking features of IRD is its exceptional heterogeneity, including genetic heterogeneity and clinical variety. Notably, a specific phenotype of IRD can be caused by mutations in different genes, and the detects in the same gene May substantially lead to different disease phenotypes. Because descriptions of disease phenotypes in publications were diverse from each other, understanding genotype-phenotype correlations remain one of major challenges.With the significant advancements of technologies in identifying genetic predispositions, especially the next-generation sequencing technology, the number of IRD-related genes and mutations has increased dramatically to date. Thus, it is crucial to integrate the existing data and present an organized comprehensive mutation repository, which could greatly facilitate the genetic counseling, diagnosis and gene therapy. To date, three databases related to retinal diseases, KM eye DB, the Mutation Database of Retina International (http://www.retina- RetNet and intenatinal.org/sci-news/mutation.htm)
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How to cite this article:
Sinan Mohammed Tawfiq Azeez Alfattah, Moayyiad Aaid Khalel Ibrahim, Muthanna Tareq Sedeeq Alkhiro. Retinal attachment to genetics. International Journal of Medicine Research, Volume 5, Issue 4, 2020, Pages 94-98
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