Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
Kaoru FujinamiRupert W StraussJohn Pei-Wen ChiangIsabelle S AudoPaul S BernsteinDavid G BirchSamantha M BomottiArtur V CideciyanAnn-Margret ErvinMeghan J MarinoJosé-Alain SahelSaddek Mohand-SaidJanet S SunnessElias I TraboulsiSheila K WestRobert WojciechowskiEberhart ZrennerMichel MichaelidesHendrik P N Schollnull nullnull nullPublished in: The British journal of ophthalmology (2018)
There is a large spectrum of ABCA4 sequence variants, including 50 novel variants, in a well-characterised cohort thereby further adding to the unique allelic heterogeneity in STGD1. Approximately half of the cohort harbours missense variants only, indicating a relatively mild phenotype of the ProgStar cohort. There are significant differences in allele frequencies between nations, although the three most prevalent variants are shared as frequent variants.