ERN-EYE Virtual Clinic for Rare Eye Diseases as a successful effort towards solving complex and rare ophthalmic conditions in Europe

被引：0

作者：

Pechhacker, Monika Grudzinska ^{[1
]}

Rotolo, Francesco ^{[1
]}

Leroux, Dorothee ^{[1
]}

Gavard, Amelie ^{[1
]}

Wernert-Iberg, Caroline ^{[1
]}

Begin, Maximin ^{[1
]}

Coupez, Bernard ^{[1
]}

Liskova, Petra ^{[2
,3
]}

Boehringer, Daniel ^{[4
]}

Holz, Frank G. ^{[5
]}

Larsen, Michael ^{[6
]}

Hamann, Steffen ^{[6
]}

Noval, Susana ^{[7
]}

Bremond-Gignac, Dominique ^{[8
]}

Lorenz, Birgit ^{[9
]}

De Baere, Elfride ^{[10
,11
]}

Leroy, Bart ^{[10
,11
,12
,13
]}

Dollfus, Helene ^{[1
,14
]}

机构：

[1] Hop Univ Strasbourg, ERN EYE Coordinat, Strasbourg, France

[2] Charles Univ Prague, Fac Med 1, Dept Ophthalmol, Prague, Czech Republic

[3] Gen Univ Hosp Prague, Prague, Czech Republic

[4] Univ Freiburg, Eye Ctr, Med Ctr, Fac Med, Freiburg, Germany

[5] Univ Bonn, Dept Ophthalmol, Bonn, Germany

[6] Rigshospitalet, Dept Ophthalmol, Glostrup, Denmark

[7] Hosp Univ La Paz, Dept Pediat Ophthalmol, IdiPaz, Madrid, Spain

[8] Univ Hosp Necker Enfants Malades, Dept Ophthalmol, Paris, France

[9] Univ Eye Hosp, Bonn, Germany

[10] Univ Ghent, Ctr Med Genet, Ghent, Belgium

[11] Ghent Univ Hosp, Ghent, Belgium

[12] Ghent Univ Hosp, Dept Ophthalmol, Ghent, Belgium

[13] Childrens Hosp Philadelphia, Ctr Mol Therapeut, Philadelphia, PA 19104 USA

[14] Hop Univ Strasbourg, CARGO, Strasbourg, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P03.026.B

引用

页码：379 / 380

页数：2

共 8 条

[1] ERN-EYE: the European Reference Network dedicated to European patients with Rare Eye Diseases
Leroux, D.
Dollfus, H.
Ashworth, J.
Black, G.
Boehringer, D.
Boon, C. J.
Cremers, F.
Daly, A.
Fasser, C.
Fischer, D.
Keegan, D.
Khan, K.
Larkin, F.
Larsen, M.
Leroy, B. P.
Liskova, P.
Lorenz, B.
Martinho, C.
Mohand-Said, S.
Petzold, A.
Preising, M.
Reinhart, T.
Wheeler-Schilling, T.
Wong, S.
Zrenner, E.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 804 - 805
[2] The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
Graeme C. Black
Panagiotis Sergouniotis
Andrea Sodi
Bart P. Leroy
Caroline Van Cauwenbergh
Petra Liskova
Karen Grønskov
Artur Klett
Susanne Kohl
Gita Taurina
Marius Sukys
Lonneke Haer-Wigman
Katarzyna Nowomiejska
João Pedro Marques
Dorothée Leroux
Frans P. M. Cremers
Elfride De Baere
Hélène Dollfus
Orphanet Journal of Rare Diseases, 16
[3] The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
Black, Graeme C.
Sergouniotis, Panagiotis
Sodi, Andrea
Leroy, Bart P.
Van Cauwenbergh, Caroline
Liskova, Petra
Gronskov, Karen
Klett, Artur
Kohl, Susanne
Taurina, Gita
Sukys, Marius
Haer-Wigman, Lonneke
Nowomiejska, Katarzyna
Marques, Joao Pedro
Leroux, Dorothee
Cremers, Frans P. M.
De Baere, Elfride
Dollfus, Helene
ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
[4] Ophthalmic registries for rare eye diseases
Sharma, Mohita
Jain, Neha
Singh, Vibha
Singla, Silkee
Aftab, Insha
INDIAN JOURNAL OF OPHTHALMOLOGY, 2022, 70 (07) : 2225 - 2230
[5] Comments on: Ophthalmic registries for rare eye diseases
Farrall, Alexandra L.
Radford, Mark H. B.
Smith, Justine R.
INDIAN JOURNAL OF OPHTHALMOLOGY, 2023, 71 (03) : 1055 - 1056
[6] A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases
Zucco, Jessica
Baldan, Federica
Allegri, Lorenzo
Bregant, Elisa
Passon, Nadia
Franzoni, Alessandra
D'Elia, Angela Valentina
Faletra, Flavio
Damante, Giuseppe
Mio, Catia
JOURNAL OF HUMAN GENETICS, 2024, 69 (06) : 271 - 282
[7] Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2-year follow-up multinational survey by the European Vision Institute Clinical Research Network (EVICR.net) and the European Reference Network for Rare Eye Diseases (ERN-EYE)
Lorenz, Birgit
Tavares, Joana
van den Born, Ingeborgh
Marques, Joao Pedro
Stingl, Katarina
Pilotto, Elisabetta
Issa, Peter Charbel
Leroux, Dorothee
Dollfus, Helene
Scholl, Hendrik P.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
[8] Clinical practice guidelines adherence, knowledge and awareness in rare and complex connective tissue diseases across Europe: results from the first ERN ReCONNET survey
Talarico, Rosaria
Marinello, Diana
Bombardieri, Stefano
Burmester, Gerd
Fonseca, Joao
Frank, Charissa
Galetti, Ilaria
Hachulla, Eric
Houssiau, Frederic
Mueller-Ladner, Ulf
Schneider, Matthias
Smith, Vanessa
Turchetti, Giuseppe
van Laar, Jacob M.
Vieira, Ana
Cutolo, Maurizio
Mosca, Marta
RMD OPEN, 2020, 6 (02): : 0

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