TY - JOUR
T1 - A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR)
AU - Balfoort, Berith M.
AU - Van Den Broeck, Filip
AU - Brands, Marion M.
AU - van Karnebeek, Clara D.
AU - Bergen, Arthur A.
AU - van den Born, L. Ingeborgh
AU - Houtkooper, Riekelt H.
AU - Wagenmakers, Margreet A.E.M.
AU - De Zaeytijd, Julie
AU - Leroy, Bart P.
AU - Boon, Camiel J.F.
AU - Diederen, Roselie M.H.
N1 - Publisher Copyright:
© The Author(s) 2024.
PY - 2024/11
Y1 - 2024/11
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85195602623
U2 - 10.1007/s00417-024-06540-8
DO - 10.1007/s00417-024-06540-8
M3 - Article
C2 - 38847892
AN - SCOPUS:85195602623
SN - 0721-832X
VL - 262
SP - 3589
EP - 3596
JO - Graefe's Archive for Clinical and Experimental Ophthalmology
JF - Graefe's Archive for Clinical and Experimental Ophthalmology
IS - 11
ER -