Dual molecular diagnosis of TYR-related oculocutaneous albinism type 1 and FBN1-associated Marfan syndrome: A novel case with ocular and systemic correlations

Abstract

We report the first pediatric case with molecular confirmation of TYR-related oculocutaneous albinism type 1 and FBN1-associated Marfan syndrome. The patient exhibited high myopia, diffuse myopic chorioretinopathy, bilateral foveal hypoplasia, and electrophysiologic evidence of optic pathway misrouting. Systemic findings included tall stature, mild scoliosis, and marfanoid features. Pathogenic variants were confirmed in both TYR and FBN1.The coexistence of these traditionally unrelated disorders broadens the phenotypic spectrum of both OCA1 and Marfan syndrome and suggests the potential involvement of shared or interacting pathways linking melanogenesis and extracellular matrix biology. This case highlights the importance of comprehensive genomic testing and multidisciplinary evaluation in patients with atypical ocular presentations and supports consideration of dual genetic diagnoses when a single gene defect does not adequately account for the clinical phenotype.