Abstract
Purpose:
Purpose: Stargardt disease is the most prevalent form of juvenile-onset macular dystrophy; currently no treatments are approved for use in Stargardt patients. The ProgStar studies are international, multicenter retrospective and prospective observational studies designed to assess the presence and progression of morphological abnormalities and visual impairment in a large population of children and adults.
Methods:
Methods: Stargardt patients aged ≥ 6 yrs. with one or more pathogenic ABCA4 mutations, at least one area of well demarcated atrophy, visual acuity (VA) ≥ 20/400 (prospective study), and a clinical phenotype of Stargardt disease were enrolled. Fundus autofluorescence, spectral domain OCT, microperimetry, VA, and clinical examinations from ≥ 2 prior clinic visits 2-5 yrs. apart were submitted for the retrospective study. In the prospective study, participants complete the imaging and psychophysical tests described for the retrospective study in the clinic every 6 months over 2 yrs.
Results:
Results: 242 participants (442 eyes) are enrolled to date in the retrospective study with a mean ± standard deviation (SD) follow-up of 3.8 ± 1.6 yrs. Mean ± SD age at the earliest visit was 30.3 ± 17.6 yrs. and age at symptom onset is 21.9 ± 13.0 yrs. Participants are predominantly female (58.3%) and Caucasian (70.7%); 9.5% reported Vitamin A use. Mean (interquartile range) VA at the earliest visit was 20/125 (20/50, 20/200). Retinal pigment epithelium (RPE) atrophy and RPE pigmentation abnormalities were identified in 97.0% and 80.6% of eyes respectively. Flecks within and outside the arcades were present in 83.5% and 45.5% of eyes.<br /> <br /> 210 participants (393 eyes) are enrolled to date in the prospective study. Mean ± SD age at baseline and age of onset are 34 ± 15.5 yrs. and 23 ± 13.4 yrs. Participants are predominantly female (53.3%) and Caucasian (83.3%); 15.7% reported Vitamin A use. Mean ± SD best corrected LogMAR VA at baseline was 0.78 ± 0.32. RPE atrophy and RPE pigmentation abnormalities were present in 92.0% and 66.8% of eyes. Flecks within and outside the arcades were present in 90.8% and 45.0% of eyes. Prospective study follow-up visits are ongoing.
Conclusions:
Conclusions: The results of the ProgStar studies will inform the development of clinically meaningful efficacy measures for future therapeutic trials to treat Stargardt disease.