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Background <p>Oguchi disease, an autosomal recessive congenital condition characterized by night blindness and distinct retinal abnormalities, was first documented by Chuta Oguchi in 1907. Predominantly observed in the Japanese population, it presents diagnostic challenges due to overlapping symptoms with other retinal diseases.</p> Objective <p>This review synthesizes recent advancements in Oguchi disease research, focusing on genetic mechanisms, diagnostic approaches, and emerging therapeutic strategies.</p> Methods <p>A systematic analysis of literature was conducted, encompassing genetic studies, clinical case reports, and therapeutic trials related to Oguchi disease. Key databases such as PubMed and ClinVar were utilized to compile pathogenic variants and phenotypic correlations.</p> Results <p>Oguchi disease is primarily linked to mutations in the SAG and GRK1 genes, which disrupt phototransduction recovery in rod photoreceptors. Diagnostic hallmarks include the Mizuo-Nakamura phenomenon and characteristic electroretinogram (ERG) abnormalities. Recent advances in gene therapy, particularly CRISPR-Cas9 and AAV vectors, show promise in preclinical models.</p> Conclusion <p>While no cure exists, genetic research has paved the way for targeted therapies. Future directions include refining gene-editing techniques and addressing challenges in clinical translation.</p>

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Advancements and future directions in Oguchi disease research

  • 期刊论文

  • 发表日期：

    2025年7月16日

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  • Fangli Fan,
  • Zhen Deng,
  • Jun Zuo,
  • Yujie Shu,
  • Danyan Tang,
  • Yifeng Wu

摘要

Background

Oguchi disease, an autosomal recessive congenital condition characterized by night blindness and distinct retinal abnormalities, was first documented by Chuta Oguchi in 1907. Predominantly observed in the Japanese population, it presents diagnostic challenges due to overlapping symptoms with other retinal diseases.

Objective

This review synthesizes recent advancements in Oguchi disease research, focusing on genetic mechanisms, diagnostic approaches, and emerging therapeutic strategies.

Methods

A systematic analysis of literature was conducted, encompassing genetic studies, clinical case reports, and therapeutic trials related to Oguchi disease. Key databases such as PubMed and ClinVar were utilized to compile pathogenic variants and phenotypic correlations.

Results

Oguchi disease is primarily linked to mutations in the SAG and GRK1 genes, which disrupt phototransduction recovery in rod photoreceptors. Diagnostic hallmarks include the Mizuo-Nakamura phenomenon and characteristic electroretinogram (ERG) abnormalities. Recent advances in gene therapy, particularly CRISPR-Cas9 and AAV vectors, show promise in preclinical models.

Conclusion

While no cure exists, genetic research has paved the way for targeted therapies. Future directions include refining gene-editing techniques and addressing challenges in clinical translation.