Sveinsson Chorioretinal Atrophy: A New Gene Variant

We report the case of a 61-year-old Hispanic female patient with clinical features consistent with Sveinsson chorioretinal atrophy (SCRA), including bilateral peripapillary chorioretinal atrophy and early macular involvement. The patient presented with no significant visual complaints but demonstrated reduced visual acuity in the left eye and characteristic peripheral fundus findings. Multimodal imaging, including spectral-domain optical coherence tomography (OCT), revealed centrifugal extension of atrophy and central macular thinning. Genetic testing identified a heterozygous <i>TEAD1</i> variant (c.599C>T; p.Ala200Val), currently classified as a variant of uncertain significance. This variant has not been previously reported in association with SCRA in Hispanic or Caribbean populations. The case highlights the importance of clinical-genetic correlation in the interpretation of rare variants and expands the phenotypic and geographic spectrum of <i>TEAD1</i>-associated retinal dystrophies. Broader genetic screening and functional studies are warranted to determine the pathogenic potential of this variant and improve diagnostic accuracy in underrepresented populations.