Stargardt disease is currently an incurable and untreatable macular dystrophy that causes severe visual loss in children and young adults, thereby causing enrmous morbidity with economic, psychological, emotional and social implications. There are no FDA approved therapeutic treatments for this disease. Therefore, the objective of this study is to collect natural history data from a large population of children and adults in order to evaluate possible efficacy measures for planned clinical trials.
This study is an observational study of the natural course of Stargardt disease. It will include data from the results of both psychophysical examinations (visual acuity testing, fundus photography, and microperimetry) and retinal imaging examinations (optical coherence tomography and fundus autofluorescence), which are an integral part of current standard of care routine in patients with STGD.
The primary objective is to assess the yearly rate of progression of Stargardt disease using the growth of atrophic lesions as measured by fundus autofluorescence imaging.
The secondary objectives are:
To assess the yearly rate of progression of Stargardt disease using the rate of retinal thinning and the rate of loss of photoreceptors as measured by spectral-domain optical coherence tomography
To assess the yearly rate of loss of retinal sensitivity as measured by microperimetry
To correlate the presence and progression of morphological abnormalities in fundus autofluorescence and spectral-domain optical coherence tomography images with visual function as measured by microperimetry and visual acuity.
To perform exploratory analysis that examines factors associated with effects on Stargardt disease progression, such as the use of vitamin A supplementation and mutations in the ABCA4 gene
Principal Investigator: Paul Bernstein