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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.

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