French national reference center for rare eye diseases (OPHTARA)
The reference center for rare eye diseases (OPHTARA) at Cochin hospital is one of the structures that make up the OphtalmoPôle of Paris. The OphtalmoPôle is the ophthalmology center of the APHP, resulting from the merger of the services of Hôtel-Dieu and Cochin.
The reference center for rare diseases in ophthalmology is a constituent site of the APHP’s network of rare diseases in ophthalmology. Each year, the structure receives about 80,000 patients and more than 8,000 procedures are performed.
The missions of the reference center include care, teaching and research actions, interfaced with the other departments of the hospital group. Genetic eye diseases are treated with the help of the team from the Cochin genetic biochemistry department. The areas of hyperspecialty related to the center for rare diseases are genetic corneal dystrophies, uveitis, including those with a genetic predisposition, and hereditary vitreoretinopathies.
The center follows the world’s largest cohort of patients with birdshot chorioretinopathy, a prototypic autoimmune disease mainly due to its binding to an HLA class I allele.
This reference center is affiliated with the SENSGENE rare diseases healthcare network and the ERN-EYE European reference networks.
> Learn more about the OphtalmoPôle of Paris
Keywords : Birdshot chorioretinopathy, uveitis, chorioretinitis, HLA-A29 antigen / immunology, familial vitreoretinopathies, corneal dystrophy.
Medical team
Pr Antoine Brezin
MD, PhD
Contact us
Phone. +33 1 58 41 22 20
Regarding the management of Birdshot’s disease, please contact directly Souhila Kecili and Linda Imikirene (referring persons of the rare diseases center).
Phone. +33 1 58 41 28 98
or +33 1 58 41 23 10
In case of emergency
Phone number for night, weekend or holidays :
Phone. +33 1 58 41 23 00
Phone numbers for the day :
Secretariat of Professors Brezin and Monnet
Phone. +33 1 58 41 22 01
> Send an email
Secretariat of Professor Bourges
Phone. +33 1 58 41 50 79
> Send an email
Secretariat of Doctor Rothschild
Phone. +33 1 58 41 24 16
> Send an email
Secretariat of Doctors Salah and Bouayed
Phone. +33 1 58 41 21 90
> Send an email
Secretariat of Doctors Bousquet, Farhat and Debieb
Phone. +33 1 58 41 40 09
> Send an email
The missions of the reference center include care, teaching and research actions, interfaced with the other services of the hospital group.
Genetic eye diseases are managed with the help of the Cochin genetic biochemistry team and are integrated into the actions of the SeqOIA platform.
Rare pathologies of the anterior segment
- Congenital cataract
- congenital glaucoma
- dysgenesis of the anterior segment including Axenfeld anomaly
- Peters anomaly
- Von Hippel-Lindau anomaly
- sclerocornea
- rare pathologies of anterior uveitis
- rare pathologies of scleritis
- ligneous conjunctivitis
- coloboma of iris
- corneal dystrophy
- ectopia lentis
- keratoconus
- congenital microcoria
- …
Rare pathologies of the posterior segment
- Retinal dystrophy
- congenital retinal and papillary anomalies including coloboma of choroid and retina and coloboma of optic disc
- Leber congenital amaurosis
- posterior uveitis
- choroideremia
- serpiginous choroiditis
- Stargardt disease
- hereditary optic neuropathy (Leber hereditary optic neuropathy)
- autosomal dominant optic neuropathy
- autosomal recessive optic neuropathy
- persistent fetal vasculature syndrome
- Birdshot chorioretinopathy
- X-linked retinoschisis
- sympathetic ophthalmia
- achromatopsia and cone dystrophy
- hereditary vitreoretinopathy
Rare panocular and / or syndromic pathologies
- aniridia
- albinism
- Lowe syndrome
- Marfan syndrome
- Ondine syndrome (congenital central hypoventilation syndrome), rare causes of panuveitis
- pseudouveitis
- sickle cell anemia
- epidermolysis bullosa
- optic pathway glioma
- homocystinuria
- incontinentia pigmenti
- Behçet disease
- Fabry disease
- mucopolysaccharidosis
- neurofibromatosis type 1
- pseudoxanthoma elasticum
- retinoblastoma
- syndromic and non-syndromic retinitis pigmentosa (Usher syndrome)
- Bardet-Biedl syndrome
- Alström syndrome–Joubert syndrome
- Senior-Loken syndrome
- Pierre Robin sequence
- Alport syndrome
- Alagille syndrome
- CHARGE syndrome
- Moebius syndrome
- Sturge-Weber syndrome
- Vogt-Koyanagi-Harada disease
- Weill-Marchesani syndrome
- Wolfram syndrome
- Down syndrome, trisomy 13, 18, …
- Norrie disease
- tuberous sclerosis complex
- Stickler syndrome
- primary oculocerebral lymphoma
- Joubert syndrome with oculorenal defect (Senior Loken type)
- Pr Antoine Brézin – Ophthalmologist, head of CRMR
- Pr Dominique Monnet – Ophthalmologist
- Pr Jean-Louis Bourges – Ophthalmologist
- Dr Pierre-Raphael Rothschild – Ophthalmologist
- Dr Elodie Bousquet – Ophthalmologist
- Dr Sawsen Salah – Ophthalmologist
- Dr Emna Bouayed – Ophthalmologist
- Dr Amina Debieb – Ophthalmologist
- Dr Rebbeca Farhat – Ophthalmologist
RESEARCH
Non-industrial projects
- STR-DL-PREV : « Scleral buckling for retinal detachment prevention in genetically confirmed Stickler syndrome: A randomized controlled trial” – APHP – In progress
Industrial projects
- Evaluation of EYS606 in Patients With Non-infectious posterior, Intermediate or Panuveitis – EYEVENSYS – In progress
- REC 0/0559 Eye Drops for Treatment of Moderate and Severe Neurotrophic Keratitis in Adult Patients – NOVARTIS – In progress
- An Open-label Extended Clinical Protocol of Ranibizumab to Evaluate Safety and Efficacy in Rare VEGF Driven Ocular Diseases – NOVARTIS – In progress
- Cyclophosphamide vs. Infliximab for Refractory Idiopathic Scleritis (CIRIS) – Hospices Civils de Lyon – In progress
Cohort
- Suivi prospectif des patients atteints de la Choriorétnopathie de type Birdshot – 502 patients included
2022
– Type one macular neovascularization in central serous chorioretinopathy: Short-term response to anti-vascular endothelial growth factor therapy.
Raphaël Lejoyeux, Francine Behar-Cohen, Irmela Mantel, Jorge Ruiz-Medrano, Sarah Mrejen, Ramin Tadayoni, Alain Gaudric, Elodie Bousquet
Eye (Lond), 2022 Oct, PMID: 34584236 PMCID: PMC9499951 (available on 2023-10-01) DOI: 10.1038/s41433-021-01778-6
2021
– PCR and culture for diagnosis of Acanthamoeba keratitis.
Helene Yera, Vichita Ok, Fiona Lee Koy Kuet, Naima Dahane, Frédéric Ariey, Lilia Hasseine, Pascal Delaunay, David Martiano, Pierre Marty, Jean Louis Bourges
Br J Ophthalmol, 2021 Sep, PMID: 33099504 DOI: 10.1136/bjophthalmol-2020-316730
– Choroidal imaging in patients with Cushing syndrome.
Pauline Eymard, Melvin Gerardy, Lucas Bouys, Chadi Mehanna, Jérôme Bertherat, Francine Behar-Cohen, Elodie Bousquet
Acta Ophthalmol, 2021 Aug, PMID: 33196148 DOI: 10.1111/aos.14664
– Choroidal vascular changes after encircling scleral buckling for rhegmatogenous retinal detachment.
Federico Bernabei, Marco Pellegrini, Leonardo Taroni, Matilde Roda, Pier Giorgio Toschi, Costantino Schiavi, Giuseppe Giannaccare, Pierre-Raphaël Rothschild
Eye (Lond), 2021 Sep, PMID: 33223533 PMCID: PMC8376964 (available on 2022-09-01) DOI: 10.1038/s41433-020-01307-x
– Comparison between the areas of scarred and active toxoplasmic retinochoroiditis.
Pierre Duraffour, Chadi Mehanna, Florence Hoogewoud, Arnaud Touboul, Dominique Monnet, Antoine P Brézin
Eye (Lond), 2021 Oct, PMID: 33235345 DOI: 10.1038/s41433-020-01290-3
– Choroidal Structural Changes in Patients with Birdshot Chorioretinopathy.
Elodie Bousquet, Neha Khandelwal, Marie Séminel, Chadi Mehanna, Sawsen Salah, Pauline Eymard, Slim Bodin Hassani, Dominique Monnet, Antoine Brezin, Rupesh Agrawal
Ocul Immunol Inflamm, 2021 Feb 17, PMID: 31714872 DOI: 10.1080/09273948.2019.1681472
– Choroidal and peripapillary changes in high myopic eyes with Stickler syndrome.
Olivia Xerri, Federico Bernabei, Elise Philippakis, Cyril Burin-Des-Roziers, Pierre-Olivier Barale, Olivier Laplace, Claire Monin, Dominique Bremond-Gignac, Gilles Guerrier, Sophie Valleix, Antoine Brezin, Pierre-Raphaël Rothschild
BMC Ophthalmol, 2021 Jan 4, PMID: 33397304 PMCID: PMC7784261 DOI: 10.1186/s12886-020-01777-3
– Acute syphilitic posterior placoid chorioretinopathy, a rare ocular manifestation of syphilis.
A C Debieb, G de Saint Sauveur, C Gratiot, A Brézin
J Fr Ophtalmol, 2021 Oct, PMID: 34481674 DOI: 10.1016/j.jfo.2020.10.016
– Mid-Phase Hyperfluorescent Plaques Seen on Indocyanine Green Angiography in Patients with Central Serous Chorioretinopathy.
Elodie Bousquet, Julien Provost, Marta Zola, Richard F Spaide, Chadi Mehanna, Francine Behar-Cohen
J Clin Med, 2021 Sep 30, PMID: 34640543 PMCID: PMC8509799 DOI: 10.3390/jcm10194525
– ERAP1, ERAP2, and Two Copies of HLA-Aw19 Alleles Increase the Risk for Birdshot Chorioretinopathy in HLA-A29 Carriers.
Sahar Gelfman, Dominique Monnet, Ann J Ligocki, Thierry Tabary, Arden Moscati, Xiaodong Bai, Jan Freudenberg, Blerta Cooper et al.
Invest Ophthalmol Vis Sci, 2021 Nov 1, PMID: 34727153 PMCID: PMC8572510 DOI: 10.1167/iovs.62.14.3
– Lymphocyte Immunophenotyping and CD4/CD8 Ratio in Cerebrospinal Fluid for the Diagnosis of Sarcoidosis-related Uveitis.
Romain Paule, Laure Denis, Nicolas Chapuis, Julien Rohmer, Jérôme Hadjadj, Jonathan London, Anthony Chauvin, Clémence Bonnet, Luc Mouthon et al.
Ocul Immunol Inflamm, 2021 Feb 17, PMID: 31671003 DOI: 10.1080/09273948.2019.1678647
– Long-Term Safety and Efficacy of Adalimumab in Patients with Noninfectious Intermediate Uveitis, Posterior Uveitis, or Panuveitis.
Eric B Suhler, Glenn J Jaffe, Eric Fortin, Lyndell L Lim, Pauline T Merrill, Andrew D Dick, Antoine P Brezin, Quan Dong Nguyen, Jennifer E Thorne, Joachim Van Calster, Luca Cimino, Alfredo Adan et al.
Ophthalmology, 2021 Jun, PMID: 33157077 DOI: 10.1016/j.ophtha.2020.10.036
– The Clinical Spectrum and Outcome of Uveomeningitis: A Comprehensive Analysis of 110 Cases.
Jérome Hadjadj, Géraldine Gaube, Matthieu Groh, Romain Paule, Sawsen Salah, Florence Hoogewoud, Philippe Blanche, Luc Mouthon, Dominique Monnet, Claire Le Jeunne, Antoine Brézin, Benjamin Terrier
Ocul Immunol Inflamm, 2021 May 11, PMID: 33974484 DOI: 10.1080/09273948.2021.1898000
2020
– Central serous chorioretinopathy: risk factors for serous retinal detachment in fellow eyes.
Ari Shinojima, Chadi Mehanna, Carlo Alessandro Lavia, Alain Gaudric, Ramin Tadayoni, Elodie Bousquet
Br J Ophthalmol, 2020 Jun, PMID: 31473627 DOI: 10.1136/bjophthalmol-2019-314970
– [Uveitis: Diagnosis and work-up].
C Bonnet, A Brézin
J Fr Ophtalmol, 2020 Feb, PMID: 31813553 DOI: 10.1016/j.jfo.2019.03.038
– Evaluation of vision-related quality of life in keratoconus patients, and associated impact of keratoconus severity indicators.
Christophe Panthier, Sarah Moran, Jean Louis Bourges
Graefes Arch Clin Exp Ophthalmol, 2020 Jul, PMID: 32296993 DOI: 10.1007/s00417-020-04680-1
– Anterior segment optical coherence tomography imaging in peripheral ulcerative keratitis, a corneal structural description.
Clemence Bonnet, Louis Debillon, Saba Al-Hashimi, Florence Hoogewoud, Dominique Monnet, Jean-Louis Bourges, Antoine Brézin
BMC Ophthalmol, 2020 May 25, PMID: 32450833 PMCID: PMC7249626 DOI: 10.1186/s12886-020-01466-1
– [Anti-TNF-α in the treatment of non-infectious uveitis].
Florence Hoogewoud, Laura Kowalczuk, Elodie Bousquet, Antoine Brézin, Elodie Touchard, Ronald Buggage, Thierry Bordet, Francine Behar-Cohen
Med Sci (Paris), 2020 Oct, PMID: 33026332 DOI: 10.1051/medsci/2020160
– Transscleral filtration revealing a chorioretinal coloboma.
Benjamin Scemla, Quentin Duroi, Pierre Duraffour, Vaël Souedan, Antoine P Brézin
Am J Ophthalmol Case Rep, 2020 Dec 19, PMID: 33385097 PMCID: PMC7771107 DOI: 10.1016/j.ajoc.2020.101003
2019
– Predictive Factors of Response to Mineralocorticoid Receptor Antagonists in Nonresolving Central Serous Chorioretinopathy.
Bousquet, E ; Dhundass, M ; Lejoyeux, R ; Shinojima, A ; Krivosic, V ; Mrejen, S & al
Am J Ophthalmol, 2019 May, PMID: 30616898 DOI: 10.1016/j.ajo.2018.11.019
– Mineralocorticoid antagonists in the treatment of central serous chorioetinopathy: Review of the pre-clinical and clinical evidence.
Bousquet, E ; Zhao, M ; Daruich, A ; Behar-Cohen, F
Exp Eye Res, 2019 Oct, PMID: 31401003 DOI: 10.1016/j.exer.2019.107754
– Choroidal Structural Changes in Patients with Birdshot Chorioretinopathy.
Bousquet, E ; Khandelwal, N ; Séminel, M ; Mehanna, C ; Salah, S ; Eymard, P & al
Ocul Immunol Inflamm, 2019 Nov 12, PMID: 31714872 DOI: 10.1080/09273948.2019.1681472
– Ocular involvement in granulomatosis with polyangiitis: A single-center cohort study on 63 patients.
Pérez-Jacoiste Asín, MA ; Charles, P ; Rothschild, PR ; Terrier, B ; Brézin, A ; Mouthon, L & al
Autoimmun Rev, 2019 May, PMID: 30844550 DOI: 10.1016/j.autrev.2019.03.001
– Expert opinion on the use of biological therapy in non-infectious uveitis.
Touhami, S ; Diwo, E ; Sève, P ; Trad, S ; Bielefeld, P ; Sène, D & al
Expert Opin Biol Ther, 2019 May, PMID: 30888881 DOI: 10.1080/14712598.2019.1595578
– Acute anterior uveitis in spondyloarthritis: a monocentric study of 301 patients.
Frantz, C ; Portier, A ; Etcheto, A ; Monnet, D ; Brezin, A ; Roure, F & al
Clin Exp Rheumatol, Jan-Feb 2019, PMID: 30620268
– Adalimumab in Active and Inactive, Non-Infectious Uveitis: Global Results from the VISUAL I and VISUAL II Trials.
Goto, H ; Zako, M ; Namba, K ; Hashida, N ; Kaburaki, T ; Miyazaki, M & al
Ocul Immunol Inflamm, 2019, PMID: 30015528 DOI: 10.1080/09273948.2018.1491605
– Lymphocyte Immunophenotyping and CD4/CD8 Ratio in Cerebrospinal Fluid for the Diagnosis of Sarcoidosis-related Uveitis.
Paule, R ; Denis, L ; Chapuis, N ; Rohmer, J ; Hadjadj, J ; London, J & al
Ocul Immunol Inflamm, 2019 Oct 31, PMID: 31671003 DOI: 10.1080/09273948.2019.1678647
– Chronic and recurrent non-infectious paediatric-onset uveitis: a French cohort.
Morelle, G ; Gueudry, J ; Uettwiller, F ; Wouters, C ; Bader-Meunier, B ; Robert, MP & al
RMD Open, 2019 Aug 5, PMID: 31452929 PMCID: PMC6691513 DOI: 10.1136/rmdopen-2019-000933
– Safety of low-dose propofol in non-fasted patients undergoing cataract surgery: a prospective cohort study.
Guerrier, G ; Rothschild, PR ; Bonnet, C ; Monnet, D ; Baillard, C
Br J Anaesth, 2019 Dec, PMID: 31540667 DOI: 10.1016/j.bja.2019.08.006
2018
– [Sarcoidosis].
Salah, S ; Abad, S ; Brézin, AP ; Monnet, D
J Fr Ophtalmol, 2018 Dec, PMID: 30449643 DOI: 10.1016/j.jfo.2018.10.002
- American academy of ophtalmology. Pr Brezin
- Présentation des maladies rares journée de réflexion ophtalmologie. Pr Brezin
- Société française d’ophtalmologie enseignement uvéite. Pr Brezin
- Enseignement uvéite ateliers d’ophtalmologie pratique. Pr Brezin
- Dealing with poor indication of keratoplasty. Annual scientific congress of Mansoura -Ophthalmic Center, Mansoura, Egypte. Pr Bourges
- Quand la cornée perd sa transparence: Dystrophies . Entretiens annuels d’ophtalmologie; 125 Congrès International – Société Française d’Ophtalmologie, Paris. Pr Bourges
- Focus sur le kératocône débutant ou suspect. Société de l’Association Française des Implants et de la chirurgie Réfractive (SAFIR), Bordeaux. Pr Bourges
- 2eme journée d’ophtalmologie et médecinefondé sur les preuves, Pr Brezin
- Oeil et medcine interne »Les 18 èmes journées de réflexions ophtalmologiques (JRO), Pr Brezin
- Uvéite non infectieuse: vers un nouvel horizon traitements :les données fondés sur les preuves) » SFO Pr Brezin
- Présentation Application Dystrophies de cornée.AG de la filiere maladie rare.Institut Imagine.Paris. Pr Bourges
- Dystrophie de cornée et imagerie: enfin la réponse facile ? Congès JIFRO. Courbevoie. Pr Bourges
- La greffe de cornée pédiatrique. Congrès COPs. Tours. Pr Bourges
- EBM et CXL du kératocone. Journée de médecine EBM. Hôpital Cochin, Paris. Pr Bourges
“The eye is a window to the body”
Notre temps | 12/19/2019
In the heart of the Cochin hospital in Paris, a large, completely renovated brick building. This is where Professor Antoine Brézin, one of the two directors of the brand new OphtalmoPôle of the public establishment, receives us. Interview, during the visit of this unique place combining care, research and training.
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How are serious eye injuries treated?
Le Figaro Santé | 01/29/2018
Ophthalmic surgery has made considerable progress in the management of eye trauma.
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What your eyes say about your health
Le Figaro | 09/11/2017
Thanks to eye examinations, it is possible to detect inflammatory, metabolic or even infectious diseases.
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The first OphtalmoPôle in Paris opens its doors at Cochin hospital
France Bleu | 07/03/2017
The new AP-HP ophthalmology center opens its doors on Monday. The OphtalmoPôle brings together the ophthalmological services of Hôtel-Dieu and Necker hospital and surgery of Lariboisière hospital. Lounge for patients and open space for operating theaters. Guided tour.
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At Cochin hospital, we operate for cataracts … in « open space »
Ouest France | 06/30/2017
Not one patient, but two or three, operated on for cataracts in the same space without partitions: in Paris, surgeons from Cochin Hospital (AP-HP) have been testing this new configuration since Friday, which they say is more practical and faster.
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Red eyes and canker sores: watch out for inflammation of the blood vessels
Le Figaro Santé | 10/21/2016
INFOGRAPHIC – This rare disease, called Behçet, can have serious consequences.
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Uveitis, a still little-known cause of blindness
La Dépêche | 10/12/2016
They are considered rare diseases and yet uveitis, still too little known to the general public, causes hundreds of cases of blindness each year in France. Especially among professionally active people. On the occasion of World Sight Day, October 13, the explanations of Pr Antoine Brezin, head of the ophthalmology department of the Paris Cochin hospital group.
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Birdshot chorioretinopathy : Definition and etiology – Antoine Brezin, MD, PhD
Biologic response modifier therapy for Birdshot chorioretinopathy – Antoine Brezin, MD, PhD
Birdshot chorioretinopathy conference for the Horus Birdshot association
1) Pr Brezin – The treatments
2) Pr Monnet – Diagnosis and manifestations of the disease
3) Pr Cohen – Where is the research at?
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Guidance on Noncorticosteroid Systemic Immunomodulatory Therapy in Noninfectious Uveitis: Fundamentals Of Care for UveitiS (FOCUS) Initiative.
Dick AD, Rosenbaum JT, Al-Dhibi HA, Belfort R Jr, Brézin AP, Chee SP, Davis JL, Ramanan AV, Sonoda KH, Carreño E, Nascimento H, Salah S, Salek S, Siak J, Steeples L; Fundamentals of Care for Uveitis International Consensus Group.
Ophthalmology. 2018 May;125(5):757-773. doi: 10.1016/j.ophtha.2017.11.017. Epub 2018 Jan 6. PMID: 29310963 Free article.
Contact information
At Cochin hospital, the reference center for rare eye diseases (OPHTARA) in brief …
* data valid for 2022