Year: 2025
Type: article
Study design: Case Report
Abstract: 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 TEAD1 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 TEAD1-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.
Source: Cureus
DOI: 10.7759/cureus.90588
Authors: Ricardo A Murati Calderon, Sebastián J Vázquez-Folch, Natalio Izquierdo
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4413351087