The causal mutation in ARR3 gene for high myopia and progressive color vision defect.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
02 06 2023
02 06 2023
Historique:
received:
10
11
2022
accepted:
30
05
2023
medline:
5
6
2023
pubmed:
3
6
2023
entrez:
2
6
2023
Statut:
epublish
Résumé
The ARR3 gene, also known as cone arrestin, belongs to the arrestin family and is expressed in cone cells, inactivating phosphorylated-opsins and preventing cone signals. Variants of ARR3 reportedly cause X-linked dominant female-limited early-onset (age < 7 years old) high myopia (< - 6D). Here, we reveal a new mutation (c.228T>A, p.Tyr76*) in ARR3 gene that can cause early-onset high myopia (eoHM) limited to female carriers. Protan/deutan color vision defects were also found in family members, affecting both genders. Using ten years of clinical follow-up data, we identified gradually worsening cone dysfunction/color vision as a key feature among affected individuals. We present a hypothesis that higher visual contrast due to the mosaic of mutated ARR3 expression in cones contributes to the development of myopia in female carriers.
Identifiants
pubmed: 37268727
doi: 10.1038/s41598-023-36141-0
pii: 10.1038/s41598-023-36141-0
pmc: PMC10238396
doi:
Substances chimiques
Arrestin
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
8986Informations de copyright
© 2023. The Author(s).
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