CLINICAL AND GENETIC CHARACTERISTIC OF AUTOSOMAL DOMINANT STARGARDT-LIKE DISEASE
Journal
Acta Morphologica
Date Issued
2017
Author(s)
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
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
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