ACR Meeting Abstracts

ACR Meeting Abstracts

  • Meetings
    • ACR Convergence 2024
    • ACR Convergence 2023
    • 2023 ACR/ARP PRSYM
    • ACR Convergence 2022
    • ACR Convergence 2021
    • ACR Convergence 2020
    • 2020 ACR/ARP PRSYM
    • 2019 ACR/ARP Annual Meeting
    • 2018-2009 Meetings
    • Download Abstracts
  • Keyword Index
  • Advanced Search
  • Your Favorites
    • Favorites
    • Login
    • View and print all favorites
    • Clear all your favorites
  • ACR Meetings

Abstract Number: 068

Outcomes of Children with Uveitis Associated with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV)

Ilaria Maccora1, Arjun Sood2, Grant Schulert3, Megan Quilan-Water3, Alexandra Duell3, Jennifer Huggins3, Tiffany Nguyen2, Cameron Sapp2, Sumit Sharma4, Srivastaval Sunil4 and Sheila Angeles-Han5, 1IRCCS Meyer Children’s Hospital, Rheumatology Unit, Florence, Italy, 2Cincinnati Eye Institute, Cincinnati, OH, 3Cincinnati Children's Hospital Medical Center, Cincinnati, OH, 4Cole Eye Institute, Cleveland Clinic, Cleveland, OH, 5Cincinnati Children's Hospital, Cincinnati, OH

Meeting: 2023 Pediatric Rheumatology Symposium

Keywords: Autoinflammatory diseases, Eye Disorders, infliximab, TNF-blocking Antibody

  • Tweet
  • Email
  • Print
Session Information

Date: Thursday, March 30, 2023

Title: Posters: Clinical and Therapeutic I

Session Type: Poster Session A

Session Time: 6:00PM-7:00PM

Background/Purpose: Pediatric uveitis is commonly associated with rheumatic disease and can lead to sight-threatening complications if not properly treated. Systemic immunomodulatory therapy has dramatically changed prognosis of corticosteroid refractory uveitis. Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) is a rare autoimmune condition caused by mutations in CAPN5, typically diagnosed in adults, and characterized by intermediate uveitis, retinal degeneration and neovascularization. In the early stages it is asymptomatic but inevitably leads to permanent blindness despite treatment; however routine testing for CAPN5 and ophthalmic screening for uveitis is not regularly done in at-risk children. Proteomic studies have shown that IL6 and VEGF are elevated in the vitreous, suggesting a possible role for targeted therapy to alter disease trajectory. Our aim is to present the short-term outcomes of the first cohort of children diagnosed with ADNIV.

Methods: Cohort study of patients ≤18 years old at diagnosis with (+) CAPN5 gene mutation (p.Leu244Pro), ocular findings consistent with ADNIV and a minimum follow-up of 6months (m). Treatment response was defined as a decrease in 1) vitreous cells on clinical examination, 2) retinal vascular leakage on ultra-widefield fluorescein angiography (UWFA), and/or 3) macular edema on optical coherence tomography (OCT).

Results: Of 19 children with a family history of ADNIV, 9 were (+) for CAPN5 mutations and 8 (16 eyes) met the inclusion criteria (Table 1). Sixty-two percent were females, and median age of ADNIV diagnosis was 14 (range 9-16) years. The median follow-up is 12 months (m) (range [R] 6-13). Four children (50%) were asymptomatic and diagnosed by clinical examination/imaging. At diagnosis, visual acuity in the worse eye was 20/100 or better, none had anterior uveitis, while 7 had vitreous cells and vascular leakage (UWFA), 2 neovascularization (UWFA), 3 macular oedema (OCT) and 1 cataract. Laboratory tests (Table 1) were all negative with the exception of Vitamin D (decreased in 3/7). Five of the 8 children were initially treated with oral (n=5) or local/injected corticosteroids (n=4), and anti-VEGF therapy (n=2). Due to persistent inflammation, systemic treatment was started in 7/8 patients. First line treatment was MTX (1 mg/kg [max 20 mg] weekly SQ) that is still ongoing in all (median duration 11 m, R6-12). Because of absent response, IFX (10 mg/kg/dose every 4 weeks) was added in all patients after a median time from diagnosis of 3.2 m (R2.5-3.1) and continued for a median time of 7 m (R3.5-10). However, IFX was ineffective in all patients, and 5/7switched to tocilizumab (10 mg/kg/every 2 weeks IV) after a median time from diagnosis of 9 m (R1-12) with a median duration of 3 m (R0-4). Outcomes at the last available follow-up are reported in Table 1.

Conclusion: We report on the largest series of children with ADNIV treated with systemic immunosuppression. Early testing for CAPN5 gene in at risk children, and regular scheduled screening for uveitis and vasculitis will lead to prompt intervention. MTX and IFX seem ineffective and tocilizumab might be a promising treatment based on underling mechanism.

Supporting image 1Table1


Disclosures: I. Maccora: None; A. Sood: Alimera Sciences, Inc, 12, ., Carl Zeiss Meditec, Inc, 12, ., EyePoint Pharmaceuticals, 12, .; G. Schulert: Novartis, 2, SOBI, 2; M. Quilan-Water: None; A. Duell: None; J. Huggins: None; T. Nguyen: None; C. Sapp: None; S. Sharma: AbbVie/Abbott, 2, bausch/lomb, 2, clearside, 2, eyepoint, 2, Genentech, 2, 5, Gilead, 5, ionis, 5, Regeneration, 2, Roche, 2, 5, Santen, 5; S. Sunil: AbbVie/Abbott, 2, Allergan, 5, Bausch and Lomb, 2, Eyepoint, 2, 5, Eyevensys, 2, 5, Novartis, 2, Regeneron, 2, 5, Santen, 5, Zeiss, 2; S. Angeles-Han: None.

To cite this abstract in AMA style:

Maccora I, Sood A, Schulert G, Quilan-Water M, Duell A, Huggins J, Nguyen T, Sapp C, Sharma S, Sunil S, Angeles-Han S. Outcomes of Children with Uveitis Associated with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV) [abstract]. Arthritis Rheumatol. 2023; 75 (suppl 4). https://acrabstracts.org/abstract/outcomes-of-children-with-uveitis-associated-with-autosomal-dominant-neovascular-inflammatory-vitreoretinopathy-adniv/. Accessed .
  • Tweet
  • Email
  • Print

« Back to 2023 Pediatric Rheumatology Symposium

ACR Meeting Abstracts - https://acrabstracts.org/abstract/outcomes-of-children-with-uveitis-associated-with-autosomal-dominant-neovascular-inflammatory-vitreoretinopathy-adniv/

Advanced Search

Your Favorites

You can save and print a list of your favorite abstracts during your browser session by clicking the “Favorite” button at the bottom of any abstract. View your favorites »

All abstracts accepted to ACR Convergence are under media embargo once the ACR has notified presenters of their abstract’s acceptance. They may be presented at other meetings or published as manuscripts after this time but should not be discussed in non-scholarly venues or outlets. The following embargo policies are strictly enforced by the ACR.

Accepted abstracts are made available to the public online in advance of the meeting and are published in a special online supplement of our scientific journal, Arthritis & Rheumatology. Information contained in those abstracts may not be released until the abstracts appear online. In an exception to the media embargo, academic institutions, private organizations, and companies with products whose value may be influenced by information contained in an abstract may issue a press release to coincide with the availability of an ACR abstract on the ACR website. However, the ACR continues to require that information that goes beyond that contained in the abstract (e.g., discussion of the abstract done as part of editorial news coverage) is under media embargo until 10:00 AM ET on November 14, 2024. Journalists with access to embargoed information cannot release articles or editorial news coverage before this time. Editorial news coverage is considered original articles/videos developed by employed journalists to report facts, commentary, and subject matter expert quotes in a narrative form using a variety of sources (e.g., research, announcements, press releases, events, etc.).

Violation of this policy may result in the abstract being withdrawn from the meeting and other measures deemed appropriate. Authors are responsible for notifying colleagues, institutions, communications firms, and all other stakeholders related to the development or promotion of the abstract about this policy. If you have questions about the ACR abstract embargo policy, please contact ACR abstracts staff at [email protected].

Wiley

  • Online Journal
  • Privacy Policy
  • Permissions Policies
  • Cookie Preferences

© Copyright 2025 American College of Rheumatology