Retinitis Pigmentosa Associated With EYS Gene Mutations in Puerto Rico: A Case Series.
| Autor: | Ruiz-Justiz AJ; Department of Ophthalmology, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI., Molina Thurin LJ; Department of Medicine, San Juan Bautista School of Medicine, Caguas, PRI., Emanuelli A; Department of Ophthalmology, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI., Izquierdo N; Department of Surgery, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2024 Oct 26; Vol. 16 (10), pp. e72440. Date of Electronic Publication: 2024 Oct 26 (Print Publication: 2024). |
| DOI: | 10.7759/cureus.72440 |
| Abstrakt: | Background: Mutations in the EYS (eyes shut homolog) gene are a known cause of autosomal recessive retinitis pigmentosa (arRP). Pathogenic variants in EYS have been associated with a more severe clinical course compared to mutations in other retinitis pigmentosa (RP)-related genes. The prevalence of EYS -related arRP varies among different populations. To date, no studies have described the presence of EYS mutations in Puerto Rican patients. This case series aims to report and characterize EYS mutations in RP patients from Puerto Rico. Methods: This retrospective case series was conducted at two major ophthalmology clinics in Puerto Rico from 2019 to 2023. A chart review was performed to identify RP patients who had mutations in the EYS gene, identified through the Invitae Inherited Retinal Disease Panel, which evaluates more than 300 genes. Collected data included demographic information (age and gender), ocular and medical history, clinical presentation of RP, best corrected visual acuity (BCVA), and genetic testing results. Results: Seven Puerto Rican patients, three females (43%) and four males (57%), with a clinical diagnosis of RP, were found to have pathogenic EYS variants. Among them, four patients (57%) carried the c.5928-2A>G variant, two (29%) had c.6794del, one (14%) had c.1211dup, and one (14%) had c.3443+1G>T. Compound heterozygosity in the EYS gene was observed in two patients. Additionally, three variants of unknown significance (VUS) were identified. Patients exhibited a wide range of visual acuity; however, those older than 40 were found to be legally blind. Conclusions: This study provides evidence of EYS -related RP in Puerto Rican patients. Four truncating mutations in the EYS gene were identified, with c.5928-2A>G being the most frequent. Additionally, the novel EYS variant c.9263G>A (p.Gly3088Glu), classified as VUS, was identified in one patient. Competing Interests: Human subjects: Consent for treatment and open access publication was obtained or waived by all participants in this study. The University of Puerto Rico, Medical Sciences Campus issued approval 2404222793. Some research in this category may be exempt from the Health and Human Services regulations for the protection of human subjects (45 CFR 46.101(b)(4)). Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Ruiz-Justiz et al.) |
| Databáze: | MEDLINE |
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