Ocular Features in Chinese Patients with Blau Syndrome

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.

Keywords:

• Blau syndrome
• NOD2 gene
• juvenile sarcoidosis
• granulomas
• juvenile
• sarcoidosis

Disclosure Statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the article.

Additional information

Funding

This work was supported by the National Natural Science Foundation of China (81470669), Beijing Natural Science Foundation (7152116) and Chinese Academy of Medical Sciences (CAMS) Innovation Fund for Medical Sciences (CIFMS 2016-12M-1-002).