RESUMEN
PURPOSE: The aim of this study was to report the detailed ophthalmic findings in a young patient with genetically confirmed arterial tortuosity syndrome (ATS) and the findings in 8 family members who were carriers. METHODS: Nine members of the same Saudi family were assessed at King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia, for ATS-related ocular changes after homozygosity for the pathogenic variant of SLC2A10 gene was confirmed in 1 member. All family members underwent complete ophthalmic examination, genetic testing, and corneal tomography at presentation and at 6-month follow-up. RESULTS: All ophthalmic features were manifested in our patient with ATS including schisis-like splitting of the stromal layer with greater peripheral thinning, pannus, deep posterior stromal opacities, myopia, high astigmatism, and keratoglobus. The ocular phenotype was also expressed in some carriers ranging from mild myopia to the full spectrum of corneal abnormalities associated with ATS. CONCLUSIONS: Our study provided further insights into the phenotype in both patients with ATS and carriers. Annual ophthalmic examination is warranted in both types of patients and must undergo from early life onward to detect progressive ectasia which may necessitate corneal crosslinking.