Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy
Autosomal recessive IMPG2-retinal dystrophy is typically an early onset retinal dystrophy associated with poor visual acuity. Younger patients are more likely to benefit from intervention in future trials due to early macular involvement in most patients.
Authors
- Fadi Nasser (ORCID: https://orcid.org/0000-0002-5309-7155)
- Rigmor C. Baraas (ORCID: https://orcid.org/0000-0003-3259-7617)
- Kaoru Fujinami (ORCID: https://orcid.org/0000-0003-4248-0033)
- Monika Grudzinska Pechhacker
- Susanne Kohl (ORCID: https://orcid.org/0000-0002-6438-6331)
- Ester Carreño (ORCID: https://orcid.org/0000-0002-0055-9547)
- Ragnheiður Bragadóttir (ORCID: https://orcid.org/0000-0001-6381-9492)
- Michael Larsen (ORCID: https://orcid.org/0000-0002-5172-5891)
- Josephine Prener Holtan (ORCID: https://orcid.org/0000-0001-7731-0750)
- Michel Michaelides
- Yu Fujinami‐Yokokawa (ORCID: https://orcid.org/0000-0001-7555-5797)
- Zaina Bouzia
- Alaa AlTalbishi (ORCID: https://orcid.org/0000-0002-9879-8828)
- Bernd Wissinger
- John Neidhardt (ORCID: https://orcid.org/0000-0002-9205-8394)
- Alberta A. H. J. Thiadens (ORCID: https://orcid.org/0000-0002-4911-9462)
- Petra Lišková (ORCID: https://orcid.org/0000-0003-3519-643X)
- Carmen Ayuso (ORCID: https://orcid.org/0000-0002-9242-7065)
- Omar A. Mahroo (ORCID: https://orcid.org/0000-0003-1254-0832)
- Mark E. Pennesi (ORCID: https://orcid.org/0000-0002-4943-6599)
- Mette Bertelsen (ORCID: https://orcid.org/0000-0003-4053-4173)
- Bohdan Kousal (ORCID: https://orcid.org/0000-0003-2824-2266)
- Nikolas Pontikos (ORCID: https://orcid.org/0000-0003-1782-4711)
- Belén Jimenez‐Rolando (ORCID: https://orcid.org/0000-0003-3772-7863)
- Ramiro S. Maldonado (ORCID: https://orcid.org/0000-0002-8440-2095)
- Ajoy Vincent (ORCID: https://orcid.org/0000-0001-6446-3846)
- Michael J. Gale (ORCID: https://orcid.org/0000-0002-0176-3216)
- Élise Héon
- E. Zrenner
- Andrew R Webster
- Michalis Georgiou
Institutions
- University of Copenhagen (DK)
- Oslo University Hospital (NO)
- Carl von Ossietzky Universität Oldenburg (DE)
- Moorfields Eye Hospital NHS Foundation Trust (GB)
- Oregon Health & Science University (US)
- Duke University (US)
- Charles University (CZ)
- Hospital for Sick Children (CA)
- University of South-Eastern Norway (NO)
- Erasmus MC (NL)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- St John of Jerusalem Eye Hospital Group (IL)
- Tokyo Medical Center (JP)
- Retina Foundation of the Southwest (US)
- Hospital Universitario Fundación Jiménez Díaz (ES)
- Institute of Ophthalmology (MX)
- Bernstein Center for Computational Neuroscience Tübingen (DE)
- SickKids Foundation (CA)
- STZ eyetrial (DE)
- Moorfields Eye Hospital (GB)
- General University Hospital in Prague (CZ)
- University College London (GB)
- Universidad Autónoma de Madrid (ES)
- University of Tübingen (DE)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- American Journal of Ophthalmology
- Published
- 2025-06-06
- DOI
- https://doi.org/10.1016/j.ajo.2025.05.044
- Citations
- 1
- Primary Topic
- Ubiquitin and proteasome pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.81