Visual Acuity and Age of Symptom Onset in a Large Chinese Cohort of Patients with Stargardt Disease

Stargardt disease is the most common form of juvenile-onset inherited macular dystrophy, with high phenotypic heterogeneity. There are limited data documenting the characteristics of Best Corrected Visual Acuity (BCVA) and age of symptom onset of patients with Stargardt disease in Chinese population. In this study, 169 patients with clinical and genetic diagnosis of Stargardt disease were recruited. BCVA, age, age of symptom onset, disease duration time and genetic information were collected and analyzed. We found that the average BCVA was 1.16±0.61 logMAR, 63.6% of patients with severe visual impairment (≤1 logMAR); the mean age of symptom onset was 13.63±12.72 years (yrs) old, 61.36% of patients had an onset earlier than 12; BCVA level was associated with genotype and disease duration, but had no direct correlation with neither age of symptom onset nor age; severe genotype (≥2 severe variants, severe variants were defined as those predicted to introduce a premature truncating codon in the protein or to affect splicing) was also associated with earlier age of symptom onset. Our data will serve as a well-founded reference for genetic counseling and better management of these patients.