A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).

Autor: Balfoort BM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Van Den Broeck F; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium., Brands MM; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., van Karnebeek CD; Department of Paediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Bergen AA; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands.; Department of Human Genetics, Section Ophthalmogenetics, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, Netherlands., Houtkooper RH; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, Netherlands.; Amsterdam Gastroenterology, Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Centre for Lysosomal and Metabolic Diseases, Erasmus MC, Erasmus University Medical Centre Rotterdam, Rotterdam, Netherlands., De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Leroy BP; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium.; Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Boon CJF; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands.; Department of Ophthalmology, Leiden University Medical Centre, Leiden, Netherlands., Diederen RMH; Department of Ophthalmology, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, Netherlands. r.m.diederen@amsterdamumc.nl.
Jazyk: angličtina
Zdroj: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2024 Jun 07. Date of Electronic Publication: 2024 Jun 07.
DOI: 10.1007/s00417-024-06540-8
Abstrakt: Purpose: 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.
Methods: Retrospective chart analysis was performed in nineteen patients. Data were analysed using IBM SPSS Statistics version 28.0.1.1.
Results: Nineteen patients were included with a mean age of 32.6 years (range 8-58). Mean age at onset of ophthalmic symptoms was 7.9 years (range 3-16). Median logMAR of visual acuity at inclusion was 0.26 (range -0.18-3.00). Mean age at cataract surgery was 28.8 years (n = 11 patients). Mean spherical equivalent of the refractive error was -8.96 (range -20.87 to -2.25). Cystoid maculopathy was present in 68% of patients, with a loss of integrity of the foveal ellipsoid zone (EZ) in 24/38 eyes. Of the 14 patients treated with dietary protein restriction, the four patients who started the diet before age 10 showed most benefit.
Conclusion: This study demonstrates the severe ophthalmic disease course associated with GACR, as well as possible benefit of early dietary treatment. In addition to visual loss, patients experience severe myopia, early-onset cataract, and CME. There is a loss of foveal EZ integrity at a young age, emphasising the need for early diagnosis enabling current and future therapeutic interventions.
(© 2024. The Author(s).)
Databáze: MEDLINE
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