CLINICAL AND GENETIC CHARACTERISTIC OF AUTOSOMAL DOMINANT STARGARDT-LIKE DISEASE

Abstract

Objective: Presentation of 7-year-old boy with a Stargardt-like disease using noninvasive imaging techniques and genetic investigation. Description: A seven-year-old boy was examined at the Department of Retina at the University Eye Clinic in Skopje, by the ophthalmologist after a pediatric systematic examination. From the heteroanamnesis it was established that the child was watching TV close to the monitor. His teacher noticed that he could not see letters and numbers from the back of the classroom. The visual acuity was 0,1 on both eyes without correction and was 0,16 with glasses. The biomicroscopy, ophthalmoscopy, OCT, FFA and ERG was done. Genetic testing was performed as well. Conclusion: OCT, FFA, ERG help for the clinical stadium diagnostics and monitoring of Stargardt Macular dystrophy or Stargardt-like macular dystrophy. Furthermore, since no effective therapy for treating the Stargardt-like disease is available, understanding the disease progression will be essential in developing and monitoring response to therapies in the future. Keywords: Stargardt Macular dystrophy, Fundus flavimaculatus, Starg