A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).
Balfoort BM, Van Den Broeck F, Brands MM, van Karnebeek CD, Bergen AA, van den Born LI, Houtkooper RH, Wagenmakers MAEM, De Zaeytijd J, Leroy BP, Boon CJF, Diederen RMH
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2024 Jun 07
Abstract
Gyrate atrophy of the choroid and retina (GACR) is an autosomal recessive inherited metabolic disorder (IMD) characterised by progressive retinal degeneration, leading to severe visual impairment. The rapid developments in ophthalmic genetic therapies warrant knowledge on clinical phenotype of eligible diseases such as GACR to define future therapeutic parameters in clinical trials.