Shijing Wu1, Linqing Zhong2, Zixi Sun1, Tian Zhu1, Hongmei Song2, Ruifang Sui1. 1. Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China. 2. Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
Abstract
Purpose: To identify pathogenic gene variants in the NOD2 gene and assess the clinical features of a cohort of Chinese patients affected with Blau syndrome. Methods: Eight patients from seven unrelated families were enrolled. Detailed ophthalmological examinations were performed. Sanger sequencing was used to analyze the NOD2 gene. Results: The onset age of ocular manifestations varied from 2 to 24 years (median: 5.5 years). Best corrected visual acuity (BCVA) ranged from light perception (LP) to 1.0. One patient presented with recurrent anterior uveitis, six patients had panuveitis and one patient was at the phthisis bulbi stage. One novel disease-associated variant (c.2006A>G, p.His669Arg) and four previously reported disease-causing variants (c.1000C>T, p.Arg334Trp; c.1001G>A, p.Arg334Gln; c.1442G>A, p.Gly481Asp; c.1759C>T, p.Arg587Cys) in the NOD2 gene (NM_022162.1) were identified.Conclusions: Blau syndrome is a rare autosomal dominant multisystem disease caused by a NOD2 gene defect. Recurrent anterior uveitis and/or panuveitis are the characteristic ocular findings.
Purpose: To identify pathogenic gene variants in the NOD2 gene and assess the clinical features of a cohort of Chinese patients affected with Blau syndrome. Methods: Eight patients from seven unrelated families were enrolled. Detailed ophthalmological examinations were performed. Sanger sequencing was used to analyze the NOD2 gene. Results: The onset age of ocular manifestations varied from 2 to 24 years (median: 5.5 years). Best corrected visual acuity (BCVA) ranged from light perception (LP) to 1.0. One patient presented with recurrent anterior uveitis, six patients had panuveitis and one patient was at the phthisis bulbi stage. One novel disease-associated variant (c.2006A>G, p.His669Arg) and four previously reported disease-causing variants (c.1000C>T, p.Arg334Trp; c.1001G>A, p.Arg334Gln; c.1442G>A, p.Gly481Asp; c.1759C>T, p.Arg587Cys) in the NOD2 gene (NM_022162.1) were identified.Conclusions: Blau syndrome is a rare autosomal dominant multisystem disease caused by a NOD2 gene defect. Recurrent anterior uveitis and/or panuveitis are the characteristic ocular findings.