Cited by Syndromic Retinitis Pigmentosa

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study DOI

Berith M. Balfoort, Filip Van den Broeck, Camiel J. F. Boon

et al.

Journal of Inherited Metabolic Disease, Journal Year: 2025, Volume and Issue: 48(1)

Published: Jan. 1, 2025

ABSTRACT Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge clinical phenotype current outcomes required. In this study, we analyzed 27 patients with GACR. The median age at inclusion was 24 years (range 8–58), diagnosis 14 0–42). Symptoms began mean 9 0–21). Mixed‐models analysis showed significant association between dietary natural protein intake plasma ornithine levels. Ornithine significantly age, independent intake. We found no statistically levels best‐corrected visual acuity over time. Patients who started protein‐restricted diet below 10 had better VF compared to that later age. MR spectroscopy used asses cerebral creatine deficiency, which present 15/20 patients, whom were supplemented Finally, using Michigan Retinal Degeneration Questionnaire, provided first insight into vision‐related disability reported GACR higher foveal sensitivity associated less perceived disability. conclude, study provides insights phenotype, genotype, biochemistry, treatment effects GACR, can be care pathways design.

Language: Английский

Citations

Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy DOI

Russell M. Wilder,

Andrea An,

Brent A. Bell

et al.

Experimental Eye Research, Journal Year: 2025, Volume and Issue: unknown, P. 110382 - 110382

Published: April 1, 2025

Language: Английский

Citations

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected? DOI

Mark J. Buijs, Berith M. Balfoort, Marion M. Brands

et al.

Acta Ophthalmologica, Journal Year: 2025, Volume and Issue: unknown

Published: April 7, 2025

Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in gene coding for ornithine aminotransferase ( OAT ) resulting hyperornithinaemia. Clinically, GACR characterized concentric loss visual fields due to progressive chorioretinal atrophy. Because systemically expressed, it not clear why primarily damaged patients. In this review, we first provide an extensive overview clinical features current treatment modalities GACR. Next, discuss different pathways involved metabolism, including urea cycle, polyamine synthesis, creatine proline synthesis degradation our vision on how deficiency thought affect these retinal pigment epithelium (RPE). We several hypotheses explain pathology observed perspectives future research.

Language: Английский

Citations

A mini-review on the international gyrate atrophy symposium 2023: More than meets the eye. Focus on outstanding research questions DOI

Marion M. Brands, Berith M. Balfoort, K. Ravi Acharya

et al.

Molecular Genetics and Metabolism, Journal Year: 2024, Volume and Issue: 143(4), P. 108609 - 108609

Published: Nov. 7, 2024

Language: Английский

Citations

Syndromic Retinitis Pigmentosa DOI

Jessica S. Karuntu,

Hind Almushattat,

Xuan‐Thanh‐An Nguyen

et al.

Progress in Retinal and Eye Research, Journal Year: 2024, Volume and Issue: unknown, P. 101324 - 101324

Published: Dec. 1, 2024

Language: Английский

Citations