Genetic background of acute anterior uveitis

• Published in: American journal of ophthalmology Vol. 91; no. 6; p. 711
• Main Authors: Tiilikainen, A, Koskimies, S, Eriksson, A, Frants, R
• Format: Journal Article
• Language: English
• Published: United States 01.06.1981
• Subjects: Acute Disease; Adult; Aged; alpha 1-Antitrypsin - genetics; Arthritis, Reactive - diagnosis; Female; HLA Antigens - analysis; Humans; Inflammation; Male; Middle Aged; Pedigree; Radiography; Sacroiliac Joint - diagnostic imaging; Uveitis - genetics
• ISSN: 0002-9394
• DOI: 10.1016/0002-9394(81)90003-9

To determine the hereditary pattern of acute anterior uveitis, we examined seven families-one family with four cases, one family with three cases, and four families with two cases of acute anterior uveitis. A total of 16 patients with uveitis and 28 relatives underwent ocular examinations and serologic determination of HLA antigens, protease inhibitor alpha 1-antitrypsin typing, and X-ray examination of sacroiliac joints. Sacroiliitis was found in 11 of 16 patients (68.8%) and incomplete Reiter's disease in seven of 16 (43.8%). HLA-B27 antigen was found in all patients with uveitis and in six of 21 (28.6%) relatives. HLA-Cw1 antigen was found in nine of 14 (64.3%) patients with uveitis, often in the same haplotype with HLA-B27 antigen. HLA-DR4 antigen was found in seven of 11 (63.6%) patients with uveitis. There was no significant association of the alpha 1-antitrypsin variant MZ with uveitis. We believe that a pleiotropic gene associated with HLA-B27 antigen with autosomal dominant inheritance, incomplete penetrance, and variable expressivity may determine susceptibility to acute anterior uveitis in linkage disequilibrium with HLA-Cwl antigen.