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

ABSTRACT: Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required. In this study, we analyzed 27 patients with GACR. The median age at inclusion was 24 years (range 8-58), with a median age at diagnosis of 14 years (range 0-42). Symptoms began at a mean age of 9 years (range 0-21). Mixed-models analysis showed a significant association between dietary natural protein intake and plasma ornithine levels. Ornithine increased significantly with ag

SUBMITTER: Balfoort BM 

PROVIDER: S-EPMC11703598 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature