Abstract
Background
Little is known about whether patients with complete congenital stationary night blindness (CSNB) maintain visual function throughout their lifetime. The purpose of this report was to describe clinical and genetic features of an elderly female patient with complete CSNB that we followed for 5 years.
Methods
Molecular genetic analysis using whole-exome sequencing (WES) was performed to detect disease-causing variants. We performed a comprehensive ophthalmic examination including full-field electroretinography (ERG).
Results
In the patient, WES identified two novel variants (c.1034delT; p.Phe345SerfsTer16 and c.1880T>A; p.Met627Lys) in the TRPM1 gene. Her unaffected daughter has one of the variants. The patient reported that her visual acuity has remained unchanged since elementary school. At the age of 68 years old, fundus and fundus autofluorescence imaging showed no remarkable findings except for mild myopic changes. Goldmann perimetry showed preserved visual fields with all V-4e, I-4e, I-3e and I-2e isopters. Optical coherence tomography demonstrated preserved retinal thickness and lamination. Rod ERG showed no response; bright-flash ERG showed an electronegative configuration with minimally reduced a-waves, and cone and 30-Hz flicker ERG showed minimally reduced responses. Overall, the ERG findings of ON bipolar pathway dysfunction were consistent with complete CSNB.
Conclusions
This is the oldest reported patient with complete CSNB and biallelic TRPM1 variants. Our ophthalmic findings suggest that some patients with TRPM1-related CSNB may exhibit preserved retinal function later in life.
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Acknowledgements
The authors thank the patient and her daughter for participating in this study.
Funding
This work was supported by a grant from the Japanese Retinitis Pigmentosa Society (JRPS) Research Grant 2019.
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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.
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The patient and her daughter have consented to the submission of the case report to the journal.
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The protocol for this study was approved by the Institutional Review Board of the Jikei University School ofMedicine (approval numbers: 24-231 6997). The protocol adhered to the tenets of the Declaration of Helsinki, with written informed consent obtained from the female patient and her daughter.
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Hayashi, T., Mizobuchi, K., Kikuchi, S. et al. Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness. Doc Ophthalmol 142, 265–273 (2021). https://doi.org/10.1007/s10633-020-09798-5
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DOI: https://doi.org/10.1007/s10633-020-09798-5