Abstract
Purpose :
Stargardt disease (SD) is a rare, blinding inherited macular dystrophy. Lambertus et al. (Ophthalmology, 2015) reported that SD patients with symptoms onset ≤ 10 years of age had more severe disease and progressed more rapidly to legal blindness than patients developing SD at an older age. The purpose of this study is to better describe the clinical profile and course of visual decline in patients with early-onset SD (EOSD).
Methods :
This non-interventional, multinational, multicenter, retrospective chart review study is collecting demographic data from SD patients including age at symptoms onset, age at clinical diagnosis, ABCA4 genotyping and progression of visual acuity over time in Europe and the USA. This interim analysis will focus on descriptive statistics of patients included from the USA, Germany and the Netherlands.
Results :
Data was reviewed from 748 SD patients (56.1% female) with a mean age of 29.2 years at clinical diagnosis (min 6 – max 82). Of the 670 patients with a referenced age at onset of symptoms, 136 (20.30%) had an EO, 467 (69.70%) an intermediate onset (IO), and 67 (10%) a late onset (LO) of SD. Mean time between onset of symptoms and clinical diagnosis was greater for EO (9 years) compared to IO (4.7 years), and LO (3 years). Genotyping was done in 76.2% patients confirming ABCA4 mutation in 72.9%. Study examination comparing first recorded BCVA by patients’ age at onset groups (Table 1), supports the link between earlier age of onset and a more rapid course of retinal degeneration.
Conclusions :
This study supports prior work demonstrating that patients with EOSD have a more rapid progression of vision loss and, hence, a higher unmet need for an effective therapy that could halt or retard the progression of their macular degeneration than patients older at the onset of disease symptoms. Additional efforts will be needed to reduce the time from symptoms onset to clinical diagnosis and genotyping in order for children with EOSD to have an opportunity to benefit from promising gene replacement therapies in development.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.