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Documenta Ophthalmologica

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17.10.2020 | Clinical Case Report

Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness

verfasst von: Takaaki Hayashi, Kei Mizobuchi, Shinsuke Kikuchi, Tadashi Nakano

Erschienen in: Documenta Ophthalmologica | Ausgabe 2/2021

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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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Titel: Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness
verfasst von: Takaaki Hayashi
Kei Mizobuchi
Shinsuke Kikuchi
Tadashi Nakano
Publikationsdatum: 17.10.2020
Verlag: Springer Berlin Heidelberg
Erschienen in: Documenta Ophthalmologica / Ausgabe 2/2021
Print ISSN: 0012-4486
Elektronische ISSN: 1573-2622
DOI: https://doi.org/10.1007/s10633-020-09798-5

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Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness

Abstract

Background

Methods

Results

Conclusions

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Ophthalmika in der Schwangerschaft

Operative Therapie und Keimnachweis bei endogener Endophthalmitis

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Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

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Abstract

Background

Methods

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Conclusions

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