Expanding the genetic spectra of gyrate atrophy of the choroid and retina in a Chinese cohort in Yunnan province

Abstract Background Gyrate atrophy (GACR), a rare autosomal recessive chorioretinal dystrophy caused by OAT mutations, is genetically and clinically underexplored in multi-ethnic Chinese populations. Results Eight patients from five families all exhibited high myopia (mean − 8.28 D), early-onset vis...

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Detalhes bibliográficos

Principais autores:	Feng-Juan Gao, Cong Duan, Kai-xin Chen, Yu-Qiao Ju, Qing Chang, Juan-Juan Li, Li-Wei Zhang, Zhu-Lin Hu, Ge-Zhi Xu, Yuan Zong
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2025-12-01
Colecção:	Human Genomics
Assuntos:	Gyrate atrophy OAT gene 5' untranslated region Parapapillary atrophy Foveoschisis
Acesso em linha:	https://doi.org/10.1186/s40246-025-00857-z
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