Retinitis Pigmentosa Associated With EYS Gene Mutations in Puerto Rico: A Case Series

Seven Puerto Rican patients, three females (43%) and four males (57%), with a clinical diagnosis of RP, were found to have pathogenic <i>EYS</i> 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 <i>EYS</i> 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 <i>EYS</i>-related RP in Puerto Rican patients. Four truncating mutations in the <i>EYS</i> gene were identified, with c.5928-2A>G being the most frequent. Additionally, the novel <i>EYS</i> variant c.9263G>A (p.Gly3088Glu), classified as VUS, was identified in one patient.