ArticleDocumenta ophthalmologica. Advances in ophthalmology2021
Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 10 citations in OpenAlex.
- Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function.Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Optical coherence tomography findings of the peripheral retina in patients with congenital X-linked retinoschisis.Frontiers in medicine · 2023Article
- Polypoidal choroidal vasculopathy in a patient with DMPK-associated myotonic dystrophy.Documenta ophthalmologica. Advances in ophthalmology · 2022Article
- The second Japanese family with Malattia Leventinese/Doyne honeycomb retinal dystrophy.Documenta ophthalmologica. Advances in ophthalmology · 2022Article
- Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.Genes · 2021Article
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4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundLittle 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.
methodsMolecular 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).
resultsIn 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.
conclusionsThis 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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