Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease

Abstract NLRP3-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant disorder involving multiple systems. We aim to assess the ocular manifestations of Chinese adult patients with NLRP3-AID. Twelve adult patients (> 18 years old) were diagnosed as NLRP3-AID at the Departmen...

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Autores principales:	Tianli Meng, Di Wu, Yi Luo, Na Wu, Mengzhu Zhao, Min Shen, Weihong Yu
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/56998a135fe74e48a3b77b259b842004
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spelling	oai:doaj.org-article:56998a135fe74e48a3b77b259b8420042021-12-02T15:03:07ZOcular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease10.1038/s41598-021-91315-y2045-2322https://doaj.org/article/56998a135fe74e48a3b77b259b8420042021-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-91315-yhttps://doaj.org/toc/2045-2322Abstract NLRP3-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant disorder involving multiple systems. We aim to assess the ocular manifestations of Chinese adult patients with NLRP3-AID. Twelve adult patients (> 18 years old) were diagnosed as NLRP3-AID at the Department of Rheumatology, Peking Union Medical College Hospital. All patients underwent ophthalmologic evaluation by an ophthalmologist. Clinical and genetic features of these patients were collected and compared with those from Caucasian population. A total of 7 NLRP3-AID patients (58%) 14 eyes had ocular manifestations. Five NLRP3 variants were identified, and 3 patients (43%) with severe ocular damages were all found to have the NLRP3 T348M variant. The incidences of papilledema and optic atrophy in the Chinese adult NLRP3-AID patients of moderate type were similar to those in the Caucasian NLRP3-AID patients of severe type. This is the first cohort of Chinese adult NLRP3-AID patients with ocular involvement. Ocular manifestations were diverse and even severe in NLRP3-AID, particularly in patients with the moderate phenotype, and may have relationship with genotypes. Awareness of these manifestations by rheumatologists and ophthalmologists could help to avoid the irreversible ocular damages.Tianli MengDi WuYi LuoNa WuMengzhu ZhaoMin ShenWeihong YuNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Tianli Meng Di Wu Yi Luo Na Wu Mengzhu Zhao Min Shen Weihong Yu Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease
description	Abstract NLRP3-associated autoinflammatory disease (NLRP3-AID) is a rare autosomal dominant disorder involving multiple systems. We aim to assess the ocular manifestations of Chinese adult patients with NLRP3-AID. Twelve adult patients (> 18 years old) were diagnosed as NLRP3-AID at the Department of Rheumatology, Peking Union Medical College Hospital. All patients underwent ophthalmologic evaluation by an ophthalmologist. Clinical and genetic features of these patients were collected and compared with those from Caucasian population. A total of 7 NLRP3-AID patients (58%) 14 eyes had ocular manifestations. Five NLRP3 variants were identified, and 3 patients (43%) with severe ocular damages were all found to have the NLRP3 T348M variant. The incidences of papilledema and optic atrophy in the Chinese adult NLRP3-AID patients of moderate type were similar to those in the Caucasian NLRP3-AID patients of severe type. This is the first cohort of Chinese adult NLRP3-AID patients with ocular involvement. Ocular manifestations were diverse and even severe in NLRP3-AID, particularly in patients with the moderate phenotype, and may have relationship with genotypes. Awareness of these manifestations by rheumatologists and ophthalmologists could help to avoid the irreversible ocular damages.
format	article
author	Tianli Meng Di Wu Yi Luo Na Wu Mengzhu Zhao Min Shen Weihong Yu
author_facet	Tianli Meng Di Wu Yi Luo Na Wu Mengzhu Zhao Min Shen Weihong Yu
author_sort	Tianli Meng
title	Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease
title_short	Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease
title_full	Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease
title_fullStr	Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease
title_full_unstemmed	Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease
title_sort	ocular manifestations in chinese adult patients with nlrp3-associated autoinflammatory disease
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/56998a135fe74e48a3b77b259b842004
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Ocular manifestations in Chinese adult patients with NLRP3-associated autoinflammatory disease

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