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Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1

  • Clinical Case Report
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Abstract

Purpose

Autoimmune polyglandular syndrome Type 1 (APS-1) is a rare autosomal recessive disorder caused by defects in the autoimmune regulator (AIRE) gene. Patients are generally diagnosed at ages between five and fifteen years when they exhibit three or more manifestations, most typically mucocutaneous candidiasis, autoimmune Addison’s disease, and hypoparathyroidism. Our study aims to report the first case of a Chinese APS-1 patient, presented with LCA as the initial and essential clinical feature of this rare syndrome.

Methods

Detailed medical and family history were recorded for the patient. Also, the comprehensive ophthalmological examinations were conducted. Whole exome sequencing (WES) was applied to screen pathogenic variants. Sanger sequencing validation and segregation analysis were further performed for confirmation.

Results

A 3-year-old boy with severely impaired vision and initially referred as LCA. However, with a detailed history review, oral candidiasis, dental enamel hypoplasia, and nail candida infection were revealed. Moreover, genetic analysis revealed the homozygous c.769C>T (p.R257X) in AIRE gene (NM_000383.3) as the causative variant.

Conclusion

We presented one case diagnosed with APS-1 based on clinical characteristics and genetic analysis. Our study demonstrated that LCA could serve as a warning sign for APS-1 and a potential trigger of early screening, which might prevent life-threatening complications.

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Data availability

The data used in this study are available from the corresponding author upon reasonable request.

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Acknowledgements

We thank the patient and his 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 CIFMS 2022-I2M-C&T-B-024) 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, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, No. 1, Shuai Fu Yuan, Beijing, 100730, China

    Xing Wei, Tian Zhu & Ruifang Sui

  2. Beijing Mei’ermu Hospital, Beijing, China

    Lei Wang

Authors
  1. Xing Wei
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  2. Tian Zhu
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  3. Lei Wang
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  4. Ruifang Sui
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Contributions

XW wrote the main manuscript. RS designed and revised the paper. XW, RS, TZ, and LW examined the patients. XW and RS performed the genetic analysis. All authors reviewed the results and approved the manuscript.

Corresponding author

Correspondence to Ruifang Sui.

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Conflict of interest

The authors declare that they have no conflict of interest.

Statement of human rights

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. The Institutional Review Board of PUMCH (No. JS-2059) approved the study.

Statement on the welfare of animals

Not applicable.

Informed consent

Informed consent for participation and publication of this study was obtained from the guardians of the patient.

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Wei, X., Zhu, T., Wang, L. et al. Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1. Doc Ophthalmol 147, 225–232 (2023). https://doi.org/10.1007/s10633-023-09953-8

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  • DOI: https://doi.org/10.1007/s10633-023-09953-8

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