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Genetic analysis and clinical features of three Chinese patients with Oguchi disease

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Abstract

Background

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness caused by disease-causing variants in the rhodopsin kinase gene (GRK1) or the arrestin gene (SAG). Our study aims to describe the clinical features and identify the genetic defects for three Chinese patients with Oguchi disease.

Methods

We conducted detailed ophthalmologic examinations for three patients from three unrelated non-consanguineous Chinese families. Targeted next-generation sequencing (targeted NGS) and copy number variations (CNVs) analysis were applied to screen pathogenic variants. Sanger sequencing validation, quantitative real-time PCR (qPCR), and segregation analysis were further performed for confirmation. Subsequently, a combined genetic and structural biology approach was used to infer the likely functional consequences of novel variants.

Results

All three patients presented with typical clinical features of Oguchi disease, including night blindness, characteristic fundus appearance (Mizuo-Nakamura phenomenon), attenuated rod responses, and negative ERG waveforms. Their visual acuity and visual field were normal. Genetic analysis revealed two pathogenic variants in SAG and four pathogenic variants in GRK1. Patient 1 was identified to harbor compound heterozygous SAG variants c.874C > T (p.R292*) and exon2 deletion. Compound heterozygous GRK1 variants c.55C > T (p.R19*) and c.1412delC (p.P471Lfs*52) were found in patient 2. In patient 3, compound heterozygous GRK1 variants c.946C > A (p.R316S) and c.1388 T > C (p. L463P) were detected.

Conclusions

We reported the first two Chinese Oguchi patients with novel GRK1 pathogenic variants (P471Lfs*52, R316S, L463P) and one Oguchi case with SAG, indicating both GRK1 and SAG are important causative genes in Chinese Oguchi patients.

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Availability of data and materials

This work was conducted at Peking Union Medical College Hospital (PUMCH). The case’s data are available at PUMCH.

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Acknowledgements

We thank all the patients and their family members for participating in the study.

Funding

This work was supported by CAMS Innovations Fund for Medical Sciences (CIFMS 2021-I2M-1–003) and the National Natural Science Foundation of China 81873687.

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Authors and Affiliations

  1. Department of Ophthalmology, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Sciences, Peking Union Medical College Hospital, No. 1, Shuai Fu Yuan, Beijing, 100730, People’s Republic of China

    Xing Wei, Hui Li, Shijing Wu, Tian Zhu & Ruifang Sui

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Contributions

XW wrote the main manuscript. RS designed and supported the study, analyzed data and revised the paper. XW, RS, HL, SW and TZ examined the patients. XW, SW and TZ performed the genetic analysis. All authors reviewed the results and approved the manuscript.

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Correspondence to Ruifang Sui.

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The authors declare that there is no conflict of interest.

Ethics approval

This study was complied with the Guidance on Sample Collection of Human Genetic Diseases by the Ministry of Public Health of China and the tenets of the Declaration of Helsinki. Institutional Review Board of PUMCH (No. JS-2059) approved the study.

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Informed consent was obtained from each patient’s guardians in the study.

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All procedures performed in the study were in accordance with the Guidance on Sample Collection of Human Genetic Diseases by the Ministry of Public Health of China and the tenets of the Declaration of Helsinki. The study was approved by the Institutional Review Board of PUMCH (No. JS-2059).

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This study did not involve the use of animal subjects.

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Wei, X., Li, H., Wu, S. et al. Genetic analysis and clinical features of three Chinese patients with Oguchi disease. Doc Ophthalmol 146, 17–32 (2023). https://doi.org/10.1007/s10633-022-09910-x

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