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Background <p>Gyrate atrophy (GACR), a rare autosomal recessive chorioretinal dystrophy caused by <i>OAT</i> mutations, is genetically and clinically underexplored in multi-ethnic Chinese populations.</p> Results <p>Eight patients from five families all exhibited high myopia (mean − 8.28 D), early-onset vision loss, and elevated plasma ornithine. Parapapillary atrophy (PPA) was common (76.92%) and correlated with worse BCVA and longer AL. Four novel <i>OAT</i> mutations were identified: c.213G &gt; A (p.Trp71Ter), c.799&#xa0;A &gt; C (p.Thr267Pro), c.897&#xa0;C &gt; A (p.Tyr299Ter) and c.-30 + 22_-30 + 43del. Minigene assays confirmed aberrant splicing for the latter.</p> Conclusions <p>This study identifies the first pathogenic 5′ UTR variant in GACR, reveals ethnic-specific mutation profiles, and underscores PPA as a severity-linked feature.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月16日

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  • 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

摘要

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 vision loss, and elevated plasma ornithine. Parapapillary atrophy (PPA) was common (76.92%) and correlated with worse BCVA and longer AL. Four novel OAT mutations were identified: c.213G > A (p.Trp71Ter), c.799 A > C (p.Thr267Pro), c.897 C > A (p.Tyr299Ter) and c.-30 + 22_-30 + 43del. Minigene assays confirmed aberrant splicing for the latter.

Conclusions

This study identifies the first pathogenic 5′ UTR variant in GACR, reveals ethnic-specific mutation profiles, and underscores PPA as a severity-linked feature.