Birdshot Chorioretinopathy : Prospective Follow-up and Immunogenetic Studies(CO-BIRD)

NCT05153057 | Recruiting

• 1 other identifier: NI16002
• Study Type: observational
• Target: 600
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this study is twofold:

1. 1.To analyze the clinical features of a cohort of patients with birdshot chorioretinopathy (BCR), an inflammatory bilateral ocular disease, affecting the choroid and the retina.
2. 2.To identify predisposing factors for the disease. The condition is unique from the immunogenetic standpoint by its association with the HLA-A29 allele, which is the strongest link between an HLA class I antigen and a disease. To date, however, the mechanisms leading to birdshot chorioretinopathy remain unknown. GWAS (Genome Wide association Study) based on DNA of the cohort patients will be performed with the aim to identify other susceptibility genes associated with BCR.

Conditions

Posterior Uveitis; Birdshot Chorioretinopathy

Keywords

Prospective follow-up; birdshot chorioretinopathy.

Outcome Measures

Primary Outcomes (4)

• Best Corrected Visual Acuity (BCVA)

  Standard decimal clarity for distance visual acuity. It is expressed from 0 which is minimum \& worse value, corresponding to no light perception; to 1.0 (20/20) which is maximum \& best value

  Through study completion, an average of 1 year

• Visual field testing

  Humphrey 30-2 automated threshold perimetry with foveal sensitivity. It is expressed in Mean Deviation from -25 decibels or unachievable which is minimum \& worse value, to 0 decibel, which is maximum \& best value.

  Through study completion, an average of 1 year

• Color vision

  Assessed with Desaturated Lanthony 15-Hue Test: an objective technic evaluating sensitivity to color \& colour vision deficiency. Test result is categorized as Abnormal for minimum \& worse evaluation; and Normal for maximum \& best evaluation.

  Through study completion, an average of 1 year

• National Eye Institute 25-Item Visual Function Questionnaire

  Using a scale from 0 for minimum \& worse, to 100 for maximum \& best result; this questionnaire measures influence of visual impairment on various dimensions of quality of life such as emotional well-being and social functioning

  Through study completion, an average of 1 year

Secondary Outcomes (6)

• Assessment of birdshot spot size

  Through study completion, an average of 1 year

• Assessment of birdshot spot number

  Through study completion, an average of 1 year

• Assessment of birdshot spot localization

  Through study completion, an average of 1 year

• Assessment of birdshot spot pigmentation

  Through study completion, an average of 1 year

• Assessment of edema

  Through study completion, an average of 1 year

Study Arms (1)

Birdshot chorioretinopathy

Patients with a diagnosis of birdshot chorioretinopathy, with confirmed HLA-A29 positivity.

Other: Observational study

Interventions

Observational study OTHER

The goal of the study is purely observational. Treatment decisions will be made by physicians according to the grading of the intraocular inflammation related to birdshot chorioretinopathy and to their consequences on visual function. These treatment decisions will be independent from the observational study.

Birdshot chorioretinopathy

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients followed in the Department of Ophthalmology in a Paris University Hospital. Tertiary center for rare inflammatory ocular disorders.

You may qualify if:

• Bilateral disease
• Presence of at least three peripapillary "birdshot lesions" inferior or nasal to the optic disk in one eye
• Low-grade anterior segment intraocular inflammation (defined as ≤ 1+cells in the anterior chamber)
• Low grade vitreous inflammatory reaction (defined as ≤ 2+ vitreous haze‡) Supportive findings
• \. HLA-A29 positivity 2. Retinal vasculitis 3. Cystoid macular edema

You may not qualify if:

• Keratic precipitates
• Posterior synechiae
• Presence of infectious, neoplastic, or other inflammatory diseases that can cause multifocal choroidal lesions

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

Ophtalmopôle, Hôpital Cochin

Paris, Île-de-France Region, 75014, France

RECRUITING

Related Publications (17)

• Levinson RD, Brezin A, Rothova A, Accorinti M, Holland GN. Research criteria for the diagnosis of birdshot chorioretinopathy: results of an international consensus conference. Am J Ophthalmol. 2006 Jan;141(1):185-7. doi: 10.1016/j.ajo.2005.08.025.

  PMID: 16386995 BACKGROUND

• Monnet D, Brezin AP, Holland GN, Yu F, Mahr A, Gordon LK, Levinson RD. Longitudinal cohort study of patients with birdshot chorioretinopathy. I. Baseline clinical characteristics. Am J Ophthalmol. 2006 Jan;141(1):135-42. doi: 10.1016/j.ajo.2005.08.067.

  PMID: 16386987 BACKGROUND

• Monnet D, Brezin AP. Birdshot chorioretinopathy. Curr Opin Ophthalmol. 2006 Dec;17(6):545-50. doi: 10.1097/ICU.0b013e3280109479.

  PMID: 17065923 BACKGROUND

• Holland GN, Shah KH, Monnet D, Brezin AP, Yu F, Nusinowitz S, Levinson RD. Longitudinal cohort study of patients with birdshot chorioretinopathy II: color vision at baseline. Am J Ophthalmol. 2006 Dec;142(6):1013-8. doi: 10.1016/j.ajo.2006.06.065. Epub 2006 Aug 2.

  PMID: 17157585 BACKGROUND

• Monnet D, Levinson RD, Holland GN, Haddad L, Yu F, Brezin AP. Longitudinal cohort study of patients with birdshot chorioretinopathy. III. Macular imaging at baseline. Am J Ophthalmol. 2007 Dec;144(6):818-828. doi: 10.1016/j.ajo.2007.08.011. Epub 2007 Oct 18.

  PMID: 17949671 BACKGROUND

• Gordon LK, Monnet D, Holland GN, Brezin AP, Yu F, Levinson RD. Longitudinal cohort study of patients with birdshot chorioretinopathy. IV. Visual field results at baseline. Am J Ophthalmol. 2007 Dec;144(6):829-837. doi: 10.1016/j.ajo.2007.08.010. Epub 2007 Oct 15.

  PMID: 17937923 BACKGROUND

• Levinson RD, Du Z, Luo L, Monnet D, Tabary T, Brezin AP, Zhao L, Gjertson DW, Holland GN, Reed EF, Cohen JH, Rajalingam R. Combination of KIR and HLA gene variants augments the risk of developing birdshot chorioretinopathy in HLA-A*29-positive individuals. Genes Immun. 2008 Apr;9(3):249-58. doi: 10.1038/gene.2008.13. Epub 2008 Mar 13.

  PMID: 18340360 BACKGROUND

• Kappel PJ, Monnet D, Yu F, Brezin AP, Levinson RD, Holland GN. Contrast sensitivity among patients with birdshot chorioretinopathy. Am J Ophthalmol. 2009 Feb;147(2):351-356.e2. doi: 10.1016/j.ajo.2008.08.021. Epub 2008 Oct 29.

  PMID: 18973873 BACKGROUND

• Levinson RD, Monnet D, Yu F, Holland GN, Gutierrez P, Brezin AP. Longitudinal cohort study of patients with birdshot chorioretinopathy. V. Quality of life at baseline. Am J Ophthalmol. 2009 Feb;147(2):346-350.e2. doi: 10.1016/j.ajo.2008.08.011. Epub 2008 Oct 9.

  PMID: 18848319 BACKGROUND

• Pagnoux C, Mahr A, Aouba A, Berezne A, Monnet D, Cohen P, Levinson RD, Brezin AP, Guillevin L. Extraocular manifestations of birdshot chorioretinopathy in 118 French patients. Presse Med. 2010 May;39(5):e97-e102. doi: 10.1016/j.lpm.2009.12.005. Epub 2010 Mar 10.

  PMID: 20219319 BACKGROUND

• Brezin AP, Monnet D, Cohen JH, Levinson RD. HLA-A29 and birdshot chorioretinopathy. Ocul Immunol Inflamm. 2011 Dec;19(6):397-400. doi: 10.3109/09273948.2011.619295.

  PMID: 22106906 BACKGROUND

• Dastiridou AI, Bousquet E, Kuehlewein L, Tepelus T, Monnet D, Salah S, Brezin A, Sadda SR. Choroidal Imaging with Swept-Source Optical Coherence Tomography in Patients with Birdshot Chorioretinopathy: Choroidal Reflectivity and Thickness. Ophthalmology. 2017 Aug;124(8):1186-1195. doi: 10.1016/j.ophtha.2017.03.047. Epub 2017 Apr 26.

  PMID: 28456419 BACKGROUND

• Cunningham ET, Levinson RD, Denniston AK, Brezin AP, Zierhut M. Birdshot Chorioretinopathy. Ocul Immunol Inflamm. 2017 Oct;25(5):589-593. doi: 10.1080/09273948.2017.1400800. No abstract available.

  PMID: 29144845 BACKGROUND

• Bousquet E, Khandelwal N, Seminel M, Mehanna C, Salah S, Eymard P, Bodin Hassani S, Monnet D, Brezin A, Agrawal R. Choroidal Structural Changes in Patients with Birdshot Chorioretinopathy. Ocul Immunol Inflamm. 2021 Feb 17;29(2):346-351. doi: 10.1080/09273948.2019.1681472. Epub 2019 Nov 12.

  PMID: 31714872 BACKGROUND

• Ferreira de Moura T, Enjalbert A, Monnet D, Kecili S, Imikerene L, Loeliger J, Thorne JE, Brezin AP. Peripapillary atrophy in patients with birdshot chorioretinitis. Br J Ophthalmol. 2025 Jul 22;109(8):882-887. doi: 10.1136/bjo-2024-326440.

  PMID: 40010761 DERIVED

• Kaisari E, Loeliger J, Thorne JE, Monnet D, Imikirene L, Kecili S, Brezin AP. Quality of Life in Patients with Birdshot Chorioretinitis Aged 80 and Older. Ocul Immunol Inflamm. 2025 Feb;33(2):280-286. doi: 10.1080/09273948.2024.2400172. Epub 2024 Sep 9.

  PMID: 39250617 DERIVED

• Debillon L, Thorne JE, Bousquet E, Duraffour P, Kecili S, Monnet D, Brezin AP. Birdshot Chorioretinitis in Patients Aged 80 and Older. Ocul Immunol Inflamm. 2024 Sep;32(7):1212-1217. doi: 10.1080/09273948.2023.2215322. Epub 2023 May 19.

  PMID: 37204866 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Extracted DNA Transformed cell lines from white cells Plasma

MeSH Terms

Conditions

Birdshot Chorioretinopathy; Uveitis, Posterior

Interventions

Observation

Condition Hierarchy (Ancestors)

Chorioretinitis; Retinitis; Retinal Diseases; Eye Diseases; Choroiditis; Choroid Diseases; Uveal Diseases; Panuveitis; Uveitis; White Dot Syndromes; Autoimmune Diseases; Immune System Diseases

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Study Officials

• Antoine BREZIN, PhD & MD

  Université de Paris, Ophtalmopôle, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris.

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Souhila KECILI, MSc

CONTACT

+33 1 58412898; souhila.kecili@aphp.fr

Guillaume MASSON

CONTACT

+33 1 58413478; guillaume.masson@aphp.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 12, 2021
• First Posted: December 10, 2021
• Study Start: November 2, 2004
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2030
• Last Updated: March 4, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share

Locations

FR (1)