Characterization of autoimmune eye disease in association with Down's syndrome.

Autor: Zaki AM; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Pasadhika S; Legacy Devers Eye Institute, Portland, OR, USA., Huang JC; Department of Ophthalmology, Keelung Chang Gung Memorial Hospital, Keelung, Taiwan., Thomas AS; Tennessee Retina, Nashville, TN, USA., Burkholder BM; Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Lim LL; Centre for Eye Research Australia, University of Melbourne, Parkville, VIC, Australia.; Royal Victorian Eye and Ear Hospital, Melbourne, VIC, Australia., Llop SM; Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USA., Suhler EB; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA.; Portland Veterans Administration Health Care System, Portland, OR, USA., Adamus G; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA., Rosenbaum JT; Casey Eye Institute, Oregon Health & Science University, Portland, OR, USA. rosenbaumjames04@gmail.com.; Legacy Devers Eye Institute, Portland, OR, USA. rosenbaumjames04@gmail.com.; Department of Medicine, Oregon Health & Science University, Portland, OR, USA. rosenbaumjames04@gmail.com.; Corvus Pharmaceuticals, Burlingame, CA, USA. rosenbaumjames04@gmail.com.
Jazyk: angličtina
Zdroj: Eye (London, England) [Eye (Lond)] 2024 Feb; Vol. 38 (2), pp. 386-392. Date of Electronic Publication: 2023 Aug 19.
DOI: 10.1038/s41433-023-02706-6
Abstrakt: Background: Autoimmunity and deficiency of the transcription factor autoimmune regulator protein (AIRE) are known associations with Down syndrome (DS). Lack of AIRE abrogates thymic tolerance. The autoimmune eye disease associated with DS has not been characterized. We identified a series of subjects with DS (n = 8) and uveitis. In three consecutive subjects, we tested the hypothesis that autoimmunity to retinal antigens might be a contributing factor.
Subjects/methods: This was a multicentred, retrospective case series. Deidentified clinical data of subjects with both DS and uveitis were collected via questionnaire by uveitis-trained ophthalmologists. Anti-retinal autoantibodies (AAbs) were detected using an Autoimmune Retinopathy Panel tested in the OHSU Ocular Immunology Laboratory.
Results: We characterized eight subjects (mean age 29 [range, 19-37] years). The mean age of detected uveitis onset was 23.5 [range, 11-33] years. All eight subjects had bilateral uveitis (p < 0.001 based on comparison to published university referral patterns), with anterior and intermediate uveitis found in six and five subjects respectively. Each of three subjects tested for anti-retinal AAbs was positive. Detected AAbs included anti-carbonic anhydrase II, anti-enolase, anti-arrestin, and anti-aldolase.
Discussion: A partial deficiency in the AIRE on chromosome 21 has been described in DS. The similarities in the uveitis presentations within this patient group, the known autoimmune disease predisposition in DS, the recognized association of DS and AIRE deficiency, the reported detection of anti-retinal antibodies in patients with DS in general, and the presence of anti-retinal AAbs in three subjects in our series supports a causal association between DS and autoimmune eye disease.
(© 2023. The Author(s), under exclusive licence to The Royal College of Ophthalmologists.)
Databáze: MEDLINE
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