OPHTARA ENG

French national reference center for rare diseases in ophthalmology (OPHTARA)

The reference center for rare diseases in ophthalmology (OPHTARA) was initially labeled in 2006 as part of the rare diseases plan 2006-2011.

The main missions of the center are to allow a precise diagnosis by the doctors who are experts in these pathologies, to define the methods of care for patients and their families, to develop research programs on diseases having an ocular repercussion, to inform the patients and families, to define and disseminate care protocols, in conjunction with the Haute Autorité de Santé (HAS) and the Union Nationale des Caisses d’Assurance Maladie (UNCAM); and be interlocutors for patient associations.

This reference center is affiliated with the SENSGENE rare diseases healthcare network and the EYE European reference network (ERN).

Medical
team

Pr Dominique Bremond-Gignac
MD, PhD

In case of emergency

Rare pathologies of the anterior segment

  • congenital cataract
  • congenital glaucoma
  • dysgenesis of the anterior segment including Axenfeld anomaly
  • Peters anomaly
  • von Hippel anomaly
  • sclerocornea
  • rare pathologies of previous uveitis
  • rare pathologies of scleritis
  • woody conjunctivitis
  • iris coloboma
  • corneal dystrophy
  • lens ectopia
  • keratoconus
  • congenital microcoria

Rare pathologies of the posterior segment

  • retinal dystrophy
  • congenital retinal and papillary anomalies including chorioretinal and papillary colobomas
  • Leber’s congenital amaurosis
  • posterior uveitis
  • choroideremia
  • serpiginous choroiditis
  • Stargardt disease
  • hereditary optic neuropathies (Leber’s optic neuropathy
  • autosomal dominant optic neuropathy
  • autosomal recessive optic neuropathy)
  • persistence of fetal blood supply
  • Birdhshot-type chorioretinopathy
  • X-linked retinoschisis
  • Sympatic ophthalmic uveitis
  • achromatopsia and cone dystrophy
  • hereditary vitreoretinopathies

Rare panocular and / or syndromic pathologies

  • aniridia
  • albinism
  • Lowe’s syndrome
  • Marfan
  • Ondine syndrome (Congenital central alveolar hypoventilation syndrome), rare causes of pan uveitis
  • pseudo-uveitis
  • sickle cell disease
  • epidermolysis bullosa
  • optic tract gliomas
  • homocystinuria
  • incontinentia pigmenti
  • Behcet’s disease
  • fabry disease
  • mucopolysaccharidoses
  • type 1 neurofibromatosis
  • elastic pseudoxanthoma
  • retinoblastoma
  • syndromic and non-syndromic pigmentosa rethinopathies (Usher syndrome
  • Bardet Biedl syndrome
  • Alstrom-Joubert syndrome
  • senior Loken
  • Pierre Robin syndrome
  • Alport syndrome
  • Alagille syndrome
  • CHARGE syndrome
  • Moebius syndrome
  • Sturge Weber Krabbe syndrome
  • Vogt Koyanagi Harada syndrome
  • Weill Marchesani syndrome
  • Wolfram syndrome
  • trisomy 21, 13, 18, …)
  • Norrie’s disease
  • Bourneville tuberous sclecosis, Stickler syndrome
  • primary oculo-cerebral lymphoma
  • Joubert syndrome with ocular involvement (Senior Loken type)
En savoir +

  • Pr Dominique Brémond-Gignac, head of the structure – ophthalmologist
  • Dr Matthieu Robert, ophthalmologist
  • Dr Marc Abitbol, ophthalmologist
  • Dr Pierre-Antoine Aymard, ophthalmologist
  • Dr Olivier Roche, ophthalmologist
  • Dr Alejandra Daruich – Matet, ophthalmologist
  • Fabienne Bourjij, nurse
  • Céline Briaud, nurse
  • Claire Brugial, nurse
  • Nathalie Violet, nurse
  • Marie Hélène Bardet, orthoptist
  • Lenaic Bruère, orthoptist
  • Maxence Rateaux, orthoptist
  • Lucie Sordello, orthoptist
  • Philippe Le Neindre, electrophysiologist
  • Nathalie de Vergnes, clinical research assistant
  • Brigitte Garbi, therapeutic patient education (TPE) project manager
  • Emmanuelle Kutner, national diagnostic and care protocols (PNDS) project manager
  • Rabia Benkortebi, genetic advisor

Listen to the summary for the attending physician (in French)

The drafters of the PNDS are subject to the obligation to produce a public declaration of interests.

Professor Dominique Brémond-Gignac

WAGR syndrome PNDS

Wolfram syndrome PNDS

Aniridia PNDS

Therapeutic patient education (TPE)

TPE aims to help patients acquire or maintain the skills they need to manage their lives with a chronic or rare disease.
TPE is intended for all people with a chronic or rare disease, regardless of age, as well as their family members and/or caregivers.
Access to TPE is free and can be requested at any time, as soon as the disease is announced.

OPHTARA

In 2019, as part of the new DGOS call for TPE projects, the OPHTARA reference center offered the very first TPE programs in ophthalmology :

1) A TPE program for patients with congenital aniridia

Led by Pr Dominique Bremond-Gignac, coordinator of the OPHTARA reference center, with the participation of Pr Matthieu Robert and Dr Alejandra Daruich-Matet, this programme was submitted to the ARS in the summer of 2021 and the first workshops started in January 2022.
The team is made up of ophthalmologists, paramedics, a psychologist, a social worker, patients and representatives of the Gêniris association.

Focus

ETP aniridie congénitale Ophtara 4The first therapeutic education session held on 22 January 2022 enabled patients and their families to learn more about this rare genetic disease and its daily management.
Using an educational easel prepared specifically for this topic, doctors from the OPHTARA centre exchanged throughout the morning with the participants and answered the many questions that this disease raises in their daily lives.
This workshop, rich in learning and advice, should enable these families and patients to acquire greater autonomy and to live better with their pathology.

ETP aniridie congénitale Ophtara 12 ETP aniridie congénitale Ophtara 20

> Learn more


Documents to consult to learn more about this TPE program :

Vignette plaquette ETP Aniridie congénitale Ophtara anglais        NCK OPHTARA poster ETP Aniridie

2) A TPE program for patients with non-infectious autoimmune uveitis

Led and coordinated by Dr Christine Fardeau with the participation of Pr Bahram Bodaghi, at the Pitié-Salpêtrière hospital, this program proposed by the OPHTARA reference center was submitted to the ARS in the summer of 2021. The first workshops started at the end of 2021.
The team brings together ophthalmologists, nurses, orthoptists, a dietician, a psychologist, patients and representatives of the Inflam’Oeil association.

3) A TPE program for patients with Wolfram syndrome

This new TPE program « Living with Wolfram and Wolfram-like syndrome » was proposed at the end of 2020 by OPHTARA as part of the new DGOS call for projects.
Led by Dr. Orssaud, ophthalmologist at HEGP, this program is being developed with the participation of a multidisciplinary team.
The first workshops should start at the end of 2022 or the very beginning of 2023.

OPHTARA and MAGEC

In 2018, the national reference center for rare diseases in ophthalmology (OPHTARA) of the SENSGENE network, participated in the development of the very first TPE on a rare disease with ocular abnormalities: albinism.

1) A TPE program for patients with albinism

Photo ETP Ophtara albinismePr Dominique Bremond-Gignac and Pr Matthieu Robert from the OPHTARA reference center, have jointly built with the MAGEC reference center (rare diseases of the skin and mucous membranes of genetic origin in Bordeaux which is part of the FIMARAD network) and the Genespoir association, a therapeutic education program for patients with albinism.
The team is made up of ophthalmologists, dermatologists specialized in the care of patients with albinism, representatives of the Genespoir patient association and a socio-educational project manager.
This program, authorized in 2019 by the Île de France Regional Health Agency (ARS), is accessible to patients who request it.

Contact / Information
MAGEC reference center – Hélène Dufresne
OPHTARA reference center – Pr Dominique Bremond-Gignac and Pr Matthieu Robert

For more information on OPHTARA’s TPE programs
Pr Dominique Bremond-Gignac
Brigitte Garbi,
head of TPE programs – Sensgene
Phone : 01 44 49 46 09

Interuniversity diploma in pediatric ophthalmology
Paris-Descartes, Marseille and Strasbourg universities

Orbito-palpebral interuniversity diploma

University diploma in visual impairment compensation technique

University capacity for orthoptics
Paris-Descartes university

Innovative therapy in vernal keratoconjunctivitis

Identification of the gene in Gillespie syndrome

2020

Cost-effectiveness of public health interventions against human influenza pandemics in France: a methodological contribution from the FLURESP European Commission project.
Ariel Beresniak, Caterina Rizzo, John Oxford, Paweł Goryński, Adriana Pistol, Massimo Fabiani, Christian Napoli, Marta Barral, Laurent Niddam, Ahmed Bounekkar, Stephane Bonnevay, Christos Lionis, Charmaine Gauci, Dominique Bremond
Eur J Public Health, 2020 Feb 1, PMID: 31056657 DOI: 10.1093/eurpub/ckz074

Central retinal vein occlusion in otherwise healthy children and adolescents : Association With Multigenetic Variants of Thrombophilia.
Dominique Bremond-Gignac, Alejandra Daruich, Marlène Gallet, Pierre Alain Menoud, Katarzyna Nowomiejska, Robert Rejdak, Francine Behar-Cohen, Moncef Benkhalifa, Henri Copin
Retina, 2020 Jul, PMID: 31095065 DOI: 10.1097/IAE.0000000000002563

Increased choroidal thickness in primary angle closure measured by swept-source optical coherence tomography in Caucasian population.
Diem-Trang Nguyen, Audrey Giocanti-Aurégan, Nassima Benhatchi, Nicolas Greliche, Helene Beaussier, Pierre Sustronck, Sirine Hammoud, Marie-Nathalie Jeanteur, Gilles Kretz, Olivia Abitbol & Yves Lachkar
Int Ophthalmol, 2020 Jan, PMID: 31576492 DOI: 10.1007/s10792-019-01171-z

Twelve-Month Results of Cyclosporine A Cationic Emulsion in a Randomized Study in Patients With Pediatric Vernal Keratoconjunctivitis.
Dominique Bremond-Gignac, Serge Doan, Mourad Amrane, Dahlia Ismail, Jesús Montero, János Németh, Pasquale Aragona, Andrea Leonardi, VEKTIS Study Group
Am J Ophthalmol, 2020 Apr, PMID: 31770513 DOI: 10.1016/j.ajo.2019.11.020

Early detection of multiple retinal hamartomas during the follow-up of an infant diagnosed with tuberous sclerosis: Contribution of B-scan ultrasonography.
R Bunod, M Abitbol, R Nabbout, D Bremond-Gignac
J Fr Ophtalmol, 2020 Feb, PMID: 31859000 DOI: 10.1016/j.jfo.2019.06.025

Reader response: A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.
Tuy Nga Brignol, Dominique Bremond-Gignac
Neurology, 2020 Jan 21, PMID: 31959687 DOI: 10.1212/WNL.0000000000008824

Pars plana vitrectomy under melphalan irrigation for recurrent retinal detachment in eyes treated for retinoblastoma: a case report.
Christina Stathopoulos, Jessica Sergenti, Marie-Claire Gaillard, Francis L. Munier & Alejandra Daruich
BMC Ophthalmol, 2020 Jan 28, PMID: 31992247 PMCID: PMC6986012 DOI: 10.1186/s12886-020-1315-7

Unilateral conjunctivitis as first presentation of Coronavirus Disease 2019 (COVID-19): A telemedicine diagnosis.
A Daruich, D Martin, D Bremond-Gignac
J Fr Ophtalmol, 2020 May, PMID: 32327279 PMCID: PMC7170795 DOI: 10.1016/j.jfo.2020.04.001

Ocular manifestation as first sign of Coronavirus Disease 2019 (COVID-19): Interest of telemedicine during the pandemic context.
A Daruich, D Martin, D Bremond-Gignac
J Fr Ophtalmol, 2020 May, PMID: 32334847 PMCID: PMC7164841 DOI: 10.1016/j.jfo.2020.04.002

Clinical efficacy assessment in severe vernal keratoconjunctivitis: preliminary validation of a new penalties-adjusted corneal fluorescein staining score.
Andrea Leonardi, Maëva Dupuis-Deniaud, Dominique Bremond-Gignac
J Mark Access Health Policy, 2020 Apr 4, PMID: 32341771 PMCID: PMC7170307 DOI: 10.1080/20016689.2020.1748492

New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis.
Magali Colombat, Jean-Claude Aldigier, Pierre-Raphael Rothschild, Vincent Javaugue, Estelle Desport, Thierry Frouget, Jean-Michel Goujon, Nathalie Rioux-Leclercq, Nathalie Quellard, Jean Philippe Rerolle, François Paraf, Caroline Beugnet, Aurélien Tiple, Antoine Durrbach, Didier Samuel, Antoine Brézin, Frank Bridoux, Sophie Valleix
Kidney Int, 2020 Jul, PMID: 32571483 DOI: 10.1016/j.kint.2020.03.033

[Myopia in children].
Dominique Bremond-Gignac
Med Sci (Paris), Aug-Sep 2020, PMID: 32821053 DOI: 10.1051/medsci/2020131

Early management of sight threatening retinopathy in incontinentia pigmenti.
Sarah Michel, Clothilde Reynaud, Alejandra Daruich, Smail Hadj-Rabia, Dominique Bremond-Gignac, Christine Bodemer & Matthieu P. Robert
Orphanet J Rare Dis, 2020 Aug 27, PMID: 32854719 PMCID: PMC7450972 DOI: 10.1186/s13023-020-01509-2

Unilateral ischemic retinopathy following traumatic intubation mimicking retinopathy of prematurity in a preterm newborn.
Alice Theuriau, Dominique Bremond-Gignac, Alejandra Daruich
J AAPOS, 2020 Oct, PMID: 32956834 DOI: 10.1016/j.jaapos.2020.07.005

[Retinopathy of prematurity: from prevention to treatment].
Alejandra Daruich, Dominique Bremond-Gignac, Francine Behar-Cohen, Elsa Kermorvant
Med Sci (Paris), 2020 Oct, PMID: 33026333 DOI: 10.1051/medsci/2020163

Evolution of Retinal Microvascular Abnormalities in Neurofibromatosis Type 1.
Romain Touzé, Dominique Bremond-Gignac, Matthieu P Robert
Ophthalmology, 2020 Nov, PMID: 33097113 DOI: 10.1016/j.ophtha.2020.06.014

Levels of the oxidative stress biomarker malondialdehyde in tears of patients with central serous chorioretinopathy relate to disease activity.
Alejandra Daruich, Jean-Jacques Sauvain, Alexandre Matet, Simone Eperon, Claude Schweizer, Aurélie Berthet, Brigitta Danuser, Francine Behar-Cohen
Mol Vis, 2020 Oct 15, PMID: 33209015 PMCID: PMC7655974

Recent developments in the management of congenital cataract.
Dominique Bremond-Gignac, Alejandra Daruich, Matthieu P Robert, Sophie Valleix
Ann Transl Med, 2020 Nov, PMID: 33313290 PMCID: PMC7729375 DOI: 10.21037/atm-20-3033

[Unilateral ptosis in children].
Dominique Bremond-Gignac
Rev Prat, 2020 Nov, PMID: 33739761

2017

Visual Function in Asymptomatic Patients With Homozygous Sickle Cell Disease and Temporal Macular Atrophy.
Martin GC, Dénier C, Zambrowski O, Grévent D, Bruère L, Brousse V, de Montalembert M, Brémond-Gignac D, Robert MP.
JAMA Ophthalmol. 2017 Oct 1;135(10):1100-1105. doi:10.1001/jamaophthalmol.2017.3008. PubMed PMID: 28837721.

Incidence and Characteristics of Congenital Cataract Surgery in France from 2010 to 2012: The EPISAFE Program
Daien V, Le Pape A, Heve D, Villain M, Bremond Gignac D; Collaborators of the Epidemiology and Safety Program (EPISAFE).
Ophthalmic Res. 2017;58(2):114-116. doi: 10.1159/000473701. Epub 2017 Jun 20. PubMed PMID: 28633137.

Pharmacokinetics and Safety of Travoprost 0.004% Ophthalmic Solution Preserved with Polyquad in Pediatric Patients with Glaucoma.
Stahl E, Bremond-Gignac D, Landry T, Curtis M, Gedif K, Al Shahwan S, Dixon ER.
J Ocul Pharmacol Ther. 2017 Jun;33(5):361-365. doi: 10.1089/jop.2016.0133. Epub 2017 Feb 24. PubMed PMID: 28437175.

2016

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
Gerber S, Alzayady KJ, Burglen L, Brémond-Gignac D, Marchesin V, Roche O, Rio M, Funalot B, Calmon R, Durr A, Gil-da-Silva-Lopes VL, Ribeiro Bittar MF, Orssaud C, Héron B, Ayoub E, Berquin P, Bahi-Buisson N, Bole C, Masson C, Munnich A, Simons M, Delous M, Dollfus H, Boddaert N, Lyonnet S, Kaplan J, Calvas P, Yule DI, Rozet JM, Fares Taie L.
Am J Hum Genet. 2016 May 5;98(5):971-980. doi: 10.1016/j.ajhg.2016.03.004. Epub 2016 Apr 21. PubMed PMID: 27108797; PubMed Central PMCID: PMC4863566.

Incomplete penetrance of biallelic ALDH1A3 mutations.
Plaisancié J, Brémond-Gignac D, Demeer B, Gaston V, Verloes A, Fares-Taie L, Gerber S, Rozet JM, Calvas P, Chassaing N.
Eur J Med Genet. 2016 Apr;59(4):215-8. doi: 10.1016/j.ejmg.2016.02.004. Epub 2016 Feb 10. PubMed PMID: 26873617.

2015

Contribution of Electronic Medical Records to the Management of Rare Diseases.
Bremond-Gignac D, Lewandowski E, Copin H.
Biomed Res Int. 2015;2015:954283. doi: 10.1155/2015/954283. Epub 2015 Oct 11. PubMed PMID: 26539543; PubMed Central PMCID: PMC4619907.

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Coordinating center

Necker-Enfants malades university hospital – AP-HP
Coordination of the reference center

Anterior segment dysgenesis, neuro-ophthalmology, congenital cataracts and glaucoma, strabismus, aniridia, palpebral orbit, retina, albinism, microphthalmia, allergo-ophthalmology
Phone : +33 1 44 49 45 02 or 03 or 14
Fax : +33 1 44 49 50 79
rdv.ophtalmologie.nck@aphp.fr

Clinical research assistant :
Phone: +33 1 42 19 27 02

Sensgène healthcare sector manager
Phone : +33 1 44 49 46 09
ophtara.necker@aphp.fr


3 constituent sites

Paris-Centre Cochin university hospital – AP-HP – Paris
Ophthalmopole of Paris
Birdshot, vitreoretinopathy
Phone : +33 1 58 41 28 98
souhila.kecili@aphp.fr
Corneal dystrophy, keratoconus
Phone : +33 1 58 41 22 51
aurore.sauvage@aphp.fr

Paris-Ouest HEGP university hospital – AP-HP – Paris
Neuro-ophthalmology, hereditary optic neuropathy, adolescent-adult transition
Phone : +33 1 56 09 34 98
christophe.orssaud@aphp.fr

La Pitié-Salpêtrière-Charles Foix university hospital – AP-HP – Paris
Uveitis, neuro-ophthalmology
Phone : +33 1 42 16 32 30

5 competence centers in Île-de-France

Ambroise Paré university hospital – AP-HP – Boulogne Billancourt
Congenital cataracts and glaucoma, fuchs dystrophy, keratoconus, marfan
Phone : +33 1 49 09 55 09
consultation.ophtalmologie.apr@aphp.fr

Paris Sud Bicêtre university hospital – AP-HP – Kremlin-Bicêtre
Recurrent herpetic keratitis, ocular involvement of hereditary amyloid neuropathy
Phone : +33 1 45 21 36 90 / +33 1 45 21 27 99

Robert Debré university hospital – AP-HP – Paris
Congenital cataracts and glaucoma, anterior segment, malformative pathology
Phone : +33 1 40 03 57 63
emmanuel.bui-quoc@aphp.fr

Rothschild Foundation – Paris
Corneal dystrophy, keratoconus, aniridia
Phone : +33 1 48 03 65 68

Est Parisien Trousseau university hospital – AP-HP – Paris
Pediatrics: Congenital cataracts and glaucoma, retinopathy, marfan, albinism, homocystinuria
Phone : +33 1 44 73 69 92


2 overseas competence centers

La Réunion university hospital
Retinal dystrophy, corneal dystrophy
congenital cataracts and glaucoma
Phone : +33 2 62 33 10 15
camspslesjacarandas-sud@irsam.fr
Phone : +33 2 62 90 56 40
ophtalmo.fguyon@chu_reunion.fr

Pointe-à-Pitre university hospital
Keratoconus, congenital cataracts and glaucoma
Phone : +33 5 90 89 14 50
sec.ophtalmologie@chu-guadeloupe.fr

9 competence centers in the provinces

Brest university hospital
Keratoconus, congenital cataracts and glaucoma, leber neuropathy, aniridia, irido-endotheliodescemetic syndrome, juvenile arthritis, ichthyosis, mitochondrial cytopathy
Phone : +33 2 98 22 38 66
ophtalmologie@chu-brest.fr

Gabriel Montpied university hospital – Clermont Ferrand
Congenital cataracts and glaucoma, corneal dystrophy, strabismus, keratoconus, allergo-ophthalmology, aniridia
Phone : +33 4 73 75 14 78

Grenoble university hospital
Congenital cataracts and glaucoma, optic neuropathy, aniridia, albinism, goldenhar syndrome, bardet biedl
Phone : +33 4 76 76 55 66

Lille university hospital
Syndromic mixed retinal dystrophy, inherited cone disease, inherited optic neuropathy, maculopathy, anterior segment dysgenesis, coloboma
Phone : +33 3 20 44 62 1
evno.secretariat@chru-lille.fr

La Timone university hospital – Marseille
Corneal dystrophy, aniridia
Phone : +33 4 91 38 54 58
SecretariatOphtalmo.Timone@ap-hm.fr

Nantes university hospital
Retinal dystrophy
Phone : +33 2 40 08 34 01
Clinique Jules Verne – Nantes
Retinal dystrophy
Phone : +33 2 51 83 07 17

Nice university hospital
Uveitis
Phone : +33 4 92 03 37 37
ophtalmologie.consultation@chu-nice.fr

Poitiers university hospital
Rare myopia
Phone : +33 5 49 44 43 27

Cartographic directory of medico-social structures and rehabilitation centers

September 10, 2021

2nd OPHTARA national day | 1.31.2020
> program of the day
> Online registration

1st OPHTARA national  day | 9.24.2018

> Program
> Summary of the day

Contact information

Necker-Enfants malades university hospital
> Ophthalmology department

149 rue de Sèvres
75743 PARIS Cedex 15

> Pediatric welcome booklet

In Necker, the OPHTARA reference center in brief …

0
patients followed at least once a year*
0
medical consultations*
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day hospitalizations*
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fully hospitalized patients*
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authorized therapeutic education programs*
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current research projects*
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university courses*
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publications*

* data valid for 2021