Abstract: Retinitis pigmentosa is clinically and genetically heterogeneous, with about 80 genes implicated so far. The patients typically lose night vision in adolescence, side vision in young adulthood, and central vision in later life because of progressive loss of rod and cone photoreceptor cells. China starts genetic screening for RP in 1990s, with very different causative genes and mutation spectrum compared to that of the Western population. In recent years, several novel RP genes were identified in Chinese patients. The results expand the genetic spectrum of non-syndromic retinal degeneration. Imminent treatments for retinitis pigmentosa are greatly anticipated, especially for genetically defined subsets of patients, because of newly identified genes, growing knowledge of affected biochemical pathways, and development of animal models.
Publication Year: 2017
Publication Date: 2017-01-01
Language: en
Type: book-chapter
Indexed In: ['crossref']
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