Rare diseases in ophthalmology (OPHTARA)

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

logo OPHTARAdrapeau françaisThe constitutive site of the reference center for rare diseases in ophthalmology (OPHTARA) located at the Georges-Pompidou european hospital (HEGP) is a structure attached to the HEGP’s ophthalmology functional unit. It relies on the technical platform of this functional unit for carrying out additional ophthalmological examinations, and in particular the carrying out of visual fields, OCTs and electrophysiological examinations, necessary to obtain the most precise diagnosis possible and, possibly therapeutic solutions or compensation for visual impairment.

The technical platform of the university hospital center such as the HEGP allows the constitutive center to rely on the presence of all the medical and surgical specialties as well as on a complete radiology and biology technical platform for the exploration and the care of rare ophthalmological pathologies with general repercussions.

In addition to a consultation activity, this constitutive center has a day hospitalisation dedicated to the exploration and care of patients with Wolfram syndrome and WFS1 gene mutations.

This constitutive center is particularly oriented towards the care of patients with rare neuro-ophthalmological pathologies: hereditary optic neuropathies or nystagmus as well as retinal degeneration such as Leber congenital amaurosis or retinitis pigmentosa.

This center also provides the adolescent-adult transition for patients who want it and were followed in pediatric ophthalmology services because of their rare pathology.

In addition, due to the collaborations established with other reference centers or constitutive centers of the HEGP and surrounding university hospitals, this center also deals with the care and monitoring of ophthalmological complications of rare general pathologies such as sickle cell disease, pseudoxanthoma elasticum or Von Hippel Lindau disease, this list is not exhaustive.

Finally, the constitutive center of the OPHTARA reference center located on the HEGP is linked to many patient associations.

Logo SensgeneThis reference center is affiliated with the SENSGENE rare diseases healthcare network and theLogo ERN Eye EYE European reference networks (ERN).

Medical team

Photo Dr C Orssaud Ophtara HEGP

Dr Christophe Orssaud

Contact us

Phone. +33 1 56 09 34 98

By appointment in the morning

In case of emergency

appel urgence Ophtara Eng HEGPl

The main missions of the OPHTARA constitutive center are :

  • To ensure the diagnosis, care and follow-up of patients in order to propose therapeutic solutions or compensation for visual impairment to improve the daily lives of patients. Collaboration with patient associations is essential and several of them work regularly with the center. In addition, the center is involved in the « adolescent-adult » transition for patients with rare pathologies who were followed in pediatric hospitals.
  • To improve knowledge of rare pathologies treated in the context of clinical research.
  • To participate and develop therapeutic trial protocols.
  • To spread good practices to healthcare professionals who may be involved in caring for these patients.
  • To ensure the dissemination of knowledge concerning their pathology to patients and caregivers. This action is also carried out in conjunction with patient associations through written or filmed documents as well as through the establishment of a TPE.
  • Dr Christophe ORSSAUD– Ophthalmologist, head of the CRMR
  • Cécile ORSSAUD – Orthoptist
  • X                    – Orthoptist
  • Florence BOUDOUX – Nurse
  • Anola PEMBELLOT – Auxiliary nurse
  • Sira KONE – Auxiliary nurse
  • Living with Wolfram and Wolfram-Like Syndrome (Ongoing)


  • Study of the efficacy of befizal® 200 mg in the treatment of Leber’s hereditary optic neuropathy (Ended)
  • Non-interventional Study of Clinical Experience in Patients Prescribed Raxone® for the Treatment of Leber’s Hereditary Optic
    Neuropathy (LHON)” PAROS (Ended)
  • Treatwolfram (Ongoing)
  • Audiowolf (Ongoing)
  • MetabOCT (Ongoing)

The constitutive center also participates as an ophthalmological referent in numerous studies and protocols relating to neurodegenerative pathologies.



Atypical foveal and parfoveal abnormalities in sickle cell disease.
Orssaud C, Flammarion E, Michon A, Ranque B, Arlet JB.
Retina. 2023 Nov 7. doi: 10.1097/IAE.0000000000003987. Epub ahead of print. PMID: 37948742.

Relationship between paramacular thinning, cerebral vasculopathy, and hematological risk factors in sickle cell disease.
Orssaud C, Flamarion E, Michon A, Ranque B, Arlet JB.
Front Med (Lausanne). 2023 Aug 28;10:1226210. doi: 10.3389/fmed.2023.1226210. PMID: 37700770; PMCID: PMC10493280.

Case Report: Abnormalities of sperm motility and morphology in a patient with Leber hereditary optic neuropathy: Improvement after idebenone therapy.
Orssaud C, Barraud Lange V, Wolf JP, LeFoll N, Soufir JC.
Front Neurol. 2023 Jan 4;13:946559. doi: 10.3389/fneur.2022.946559. PMID: 36686502; PMCID: PMC9845611.


– Neuropathie optique héréditaire de Leber : le diagnostic différentiel [Leber hereditary optic neuropathy: differential diagnosis].
Orssaud C.
J Fr Ophtalmol. 2022 Nov;45(8S1):S9-S16. French. doi: 10.1016/S0181-5512(22)00445-4. PMID: 36529477.

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.
Rocatcher A, Desquiret-Dumas V, Charif M, Ferré M, Gohier P, Mirebeau-Prunier D, Verny C, Milea D, Lenaers G; HON Collaborators Group; Bonneau D, Reynier P, Amati-Bonneau P.
Brain. 2023 Feb 13;146(2):455-460. doi: 10.1093/brain/awac395. PMID: 36317462.


Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia
A Legrand, C Pujol, C M Durand, A Mesnil, I Rubera, C Duranton, S Zuily, A B Sousa, M Renaud, J L Boucher, N Pietrancosta, S Adham, C Orssaud, C Marelli, C Casali, L Ziccardi, N Villain, C Ewenczyk, A Durr, C Mignot, G Stevanin, C Billon, M Hureaux, X Jeunemaitre, C Goizet, J Albuisson
J Intern Med, 2021 May, PMID: 33107650 DOI: 10.1111/joim.13193

A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies
Cinzia Bocca, Victor Le Paih, Juan Manuel Chao de la Barca, Judith Kouassy Nzoughet, Patrizia Amati-Bonneau, Odile Blanchet, Benoit Védie, Daniela Géromin, Gilles Simard, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Christophe Orssaud, Pascal Reynier
Hum Mol Genet, 2021 Mar 25, PMID: 33437983 PMCID: PMC8033144 DOI: 10.1093/hmg/ddab013

MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy
Sylvie Gerber, Christophe Orssaud, Josseline Kaplan, Catrine Johansson, Jean-Michel Rozet
Genes (Basel), 2021 Apr 2, PMID: 33918393 PMCID: PMC8067165 DOI: 10.3390/genes12040521

Artificial intelligence extension of the OSCAR-IB criteria
Axel Petzold, Philipp Albrecht, Laura Balcer, Erik Bekkers, Alexander U Brandt, Peter A Calabresi, Orla Galvin Deborah, Jennifer S Graves, Ari Green, Pearse A Keane, Jenny A Nij Bijvank, Josemir W Sander, Friedemann Paul , Shiv Saidha, Pablo Villoslada, Siegfried K Wagner, E Ann Yeh, IMSVISUAL, ERN-EYE Consortium
Ann Clin Transl Neurol, 2021 Jul, PMID: 34008926 PMCID: PMC8283174 DOI: 10.1002/acn3.51320


Pseudoxanthoma Elasticum overlaps Hereditary Spastic Paraplegia Type 56
Legrand A, Pujol C, Durand CM, Mesnil A, Rubera I, Duranton C, Zuily S, Sousa AB, Renaud M, Boucher JL, Pietrancosta N, Adham S, Orssaud C, Marelli C, Casali C, Ziccardi L, Villain N, Ewenczyk C, Durr A, Mignot C, Stevanin G, Billon C, Hureaux M, Jeunemaitre X, Goizet C, Albuisson J.
J Intern Med. 2020 Oct 27. doi: 10.1111/joim.13193


[Raxone in the Leber optical neuropathy: Parisian experience].
Orssaud, C ; Bidot, S ; Lamirel, C ; Brémond Gignac, D ; Touitou, V ; Vignal, C
J Fr Ophtalmol, 2019 Mar, PMID: 30712826 DOI: 10.1016/j.jfo.2018.06.010


Hereditary optic neuropathies in pediatric ophthalmology
Orssaud C, Robert MP, Bremond Gignac D.
J Fr Ophtalmol. 2018 May;41(5):402-406. French. doi: 10.1016/j.jfo.2017.11.017

Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy
Leruez S, Verny C, Bonneau D, Procaccio V, Lenaers G, Amati-Bonneau P, Reynier P, Scherer C, Prundean A, Orssaud C, Zanlonghi X, Rougier MB, Tilikete C, Miléa D.
Orphanet J Rare Dis. 2018 Feb 17;13(1):33. doi: 10.1186/s13023-018-0773-y

Cardiac Disorders in Patients With Leber Hereditary Optic Neuropathy
Orssaud C.
J Neuroophthalmol. 2018 Dec;38(4):466-469. doi:10.1097/WNO.0000000000000623


International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy
Carelli V, Carbonelli M, de Coo IF, Kawasaki A, Klopstock T, Lagrèze WA, La Morgia C, Newman NJ, Orssaud C, Pott JWR, Sadun AA, van Everdingen J, Vignal-Clermont C, Votruba M, Yu-Wai-Man P, Barboni P
J Neuroophthalmol. 2017 Dec;37(4):371-381. doi: 10.1097/WNO.0000000000000570


Relevance of Identifying JAG1 Mutations in Patients With Isolated Posterior Embryotoxon
Orssaud C, Robert MP, Roche O.
J Glaucoma. 2016 Dec;25(12):923-925. doi: 10.1097/IJG.0000000000000580

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, PMID: 27108797 PMCID: PMC4863566 DOI: 10.1016/j.ajhg.2016.03.004

  • Results of the study on the efficacy of Befizal® 200 mg in the treatment of Leber hereditary optic neuropathy. SFO / Paris / Mai 2023
  • Latest developments in hereditary pathology NOP SFO / Paris / Mai 2023
  • Hereditary optic neuropathies in paediatric ophthalmology Société Algérienne d’Ophtalmologie / Alger / décembre 2022
  • Other treatments for ophthalmological damage caused by mitochondriopathies Neuro Ophtalmo Pédiatrie (NOP) / Angers / Février 2022
  • When genes get in the way or a bit of heredity CNOF / Lille / Juin2022
  • Hereditary optic neuropathies: new recommendations, new treatments NOP / SFO / Pairs / Mai 2022
  • Infertility due to abnormal sperm motility and morphology in a patient with Leber hereditary optic neuropathy: improvement with idebenone SFO / Pairs / Mai 2022
  • Correlation between visual field defects and temporal macular thinning on optical coherence tomography in sickle cell disease SFO / Pairs / Mai 2022
  • SFO Mai 2019 Paris Poster : Abnormalities of the macular vascularization in patients with sickle cell disease. Study in OCTA
    C.Orssaud, MP Robert, JB. Arlet, R. Remichi
  • SFO Mai 2019 Paris Poster : Comparison of papillary OCT and OCTA data in different hereditary optic neuropathies.
    Orssaud C, Remichi R, Bremond-Gignac D, Robert M
  • SFO Mai 2019 Paris Poster : Myasthénies chez l’enfant / Paediatric Myasthenia.
    Prud’homme L ; Aymard PA ; Orssaud C, Gitiaux C; Barnerias C; Bremond-Gignac D ; Robert M
  • Neuro ophtalmo Pédiatrie Strasbourg Janvier 2019 optic neuropathies of genetic cause
    C. Orssaud

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Contact information

Georges-Pompidou european hospital
> Ophthalmology department

20 rue Leblanc
75015 Paris

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At the Georges-Pompidou european hospital, the reference center for rare diseases in ophtalmology (OPHTARA) in brief …

patients followed at least once a year*
medical consultations*
day hospitalizations*
authorized therapeutic education program*
ongoing research projects*
university courses*

* data valid for 2022