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. 2024 Nov;262(11):3589-3596.
doi: 10.1007/s00417-024-06540-8. Epub 2024 Jun 7.

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

Berith M Balfoort  1   2   3 , Filip Van Den Broeck  4   5 , Marion M Brands  1 , Clara D van Karnebeek  1   6   3 , Arthur A Bergen  7   8   6 , L Ingeborgh van den Born  9 , Riekelt H Houtkooper  2   6   3 , Margreet A E M Wagenmakers  10 , Julie De Zaeytijd  4 , Bart P Leroy  4   5   11 , Camiel J F Boon  7   12 , Roselie M H Diederen  13
Affiliations

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

Berith M Balfoort et al. Graefes Arch Clin Exp Ophthalmol. 2024 Nov.

Abstract

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.

Keywords: Gyrate atrophy; Inherited retinal disease; OAT; Ornithine; Retinal degeneration.

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Figures

Fig. 1
Fig. 1
LogMAR values depicted as mean of both eyes in 19 patients with GACR compared to the age at which the measurement was performed. A gradual increase in logMAR can be seen, corresponding to a decrease in visual acuity. There is larger spread in older patients
Fig. 2
Fig. 2
Clinical course of GACR in P1 over the course of 16 years. Images are from OD taken at ages 21 (A), 27 (B), 34 (C) and 37 (D). Fundus imaging including retina colour photograph (A), IR image (B,C), and ultra-wide field fundus imaging (D). Visual field measurements including 30–2 HFA (A, B, C) and 10–2 HFA (A, B, C, D). OCT images (B, C, D). The panels depict a loss of visual field over 16 years, which is especially clear on 30–2 HFA
See this image and copyright information in PMC

References

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