Cone dysfunction in ARR3-mutation-associated early-onset high myopia: an electrophysiological study
The cone dysfunction observed in Myopia-26 patients is specifically linked to the mutation of ARR3, and is not the consequence of eoHM, i.e. elongation of the eye. It may play a role in myopic refractive error development through a yet unconfirmed pathomechanism.
Authors
- Mirella Telles Salgueiro Barboni (ORCID: https://orcid.org/0000-0002-0717-1852)
- Zoltán Maróti (ORCID: https://orcid.org/0000-0002-0515-117X)
- István Nagy (ORCID: https://orcid.org/0000-0003-2528-9173)
- Tamás Fehér (ORCID: https://orcid.org/0000-0001-9318-3640)
- Zoltán Sohajda (ORCID: https://orcid.org/0000-0002-5724-2866)
- Noémi Széll (ORCID: https://orcid.org/0000-0002-1297-6815)
- Tibor Kalmár
Institutions
- Semmelweis University (HU)
- University of Debrecen (HU)
- University of Szeged (HU)
- HUN-REN Szegedi Biológiai Kutatóközpont (HU)
- SeqOmics Biotechnology (Hungary) (HU)
- Institute of Biochemistry (HU)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-10-17
- DOI
- https://doi.org/10.1186/s13023-024-03390-9
- Citations
- 5
- Primary Topic
- Ophthalmology and Visual Impairment Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.93
Funders
- Hungarian Scientific Research Fund
- Nemzeti Kutatási Fejlesztési és Innovációs Hivatal
- Tempus Közalapítvány
- National Research, Development and Innovation Office