Iris Pigmented Lesions: Unraveling the Genetic Basis of Iris Freckles and Nevi
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Le résumé fourni par la source
Purpose: To investigate the diversity of pigmented benign lesions in the human iris, aiming to provide insights for forensic, biomedical, and ophthalmological research. Methods: A cohort of 1014 individuals of Spanish descent was analyzed. Digital slit-lamp photographs were used to evaluate iris pigmentation traits, including iris freckles, iris nevi, iris color, and the presence of a pigmented collarette. A candidate gene association study was performed on these pigmentation traits. Results: Both iris freckles and nevi were associated with increased age, female sex, pigmented collarette, and eye color (mainly green). Additionally, higher freckle and nevus counts were observed in participants with more facial freckles and cutaneous nevi and were positively associated with each other. After adjustment, a positive significant association was identified between the presence of iris freckles and genetic variants in the IRF4, HERC2, and OCA2 genes, as well as SLC45A2, although only in females. The prevalence of iris nevi was significantly lower compared to freckles. The presence of iris nevi also showed positive associations with genetic variants in IRF4 and HERC2, plus TYR in brown-eyed individuals only. No association was identified between MC1R, the major cutaneous freckle gene, and the presence of iris freckles or nevi. Conclusions: The genetic basis of iris freckles and nevi reveals associations with well-known pigmentation genes (particularly IRF4), as well as eye color, sex, and age. These findings contribute to our understanding of iris pigmented benign lesions and their potential implications in conditions such as uveal melanoma, age-related macular degeneration, or solar damage.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Iris Pigmented Lesions: Unraveling the Genetic Basis of Iris Freckles and Nevi
- Date Crossref
- 22/04/2025
- Éditeur
- Association for Research in Vision and Ophthalmology (ARVO)
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Institut Català de Retina pays non établi dans la noticeÉtablissement de santé
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Hospital General Universitari de Castelló pays non établi dans la noticeÉtablissement de santé
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Universitat Jaume I pays non établi dans la noticeUniversité ou école supérieure
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Catalan Retina Institute Department of Ophthalmology pays non établi dans la noticeStructure de recherche
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Castellón General University Hospital Department of Ophthalmology pays non établi dans la noticeUniversité ou école supérieure
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Jaume I University of Castellón Department of Medicine pays non établi dans la noticeUniversité ou école supérieure
Institut Català de Retina, Hospital General Universitari de Castelló et Universitat Jaume I, avec 3 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.