Genetic Landscape of Nonsyndromic Retinitis Pigmentosa in Portugal.

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Tác giả: C Henrique Alves, António Francisco Ambrósio, Ana Luísa Carvalho, Oluji Chukwunalu, João Pedro Marques, Peter M J Quinn

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: United States : Advances in experimental medicine and biology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 50012

Inherited retinal degenerations (IRDs) comprise a heterogeneous group of disorders that cause severe vision loss or even blindness. With an estimated prevalence of 1:4000, Retinitis Pigmentosa (RP) is the most prevalent IRD. RP is characterized by progressive centripetal degeneration of rods, followed by degeneration of cone photoreceptors. Clinically, RP presents with nyctalopia of variable age of onset and progressive narrowing of the peripheral visual field. Most patients eventually experience some degree of central vision loss, leading to legal blindness. We have evaluated the most common RP-causing genes in a Portuguese IRD registry (IRD-PT, www.retina.com.pt ).
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