ArticleDocumenta ophthalmologica. Advances in ophthalmology2020
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Article
- Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.BMC ophthalmology · 2025Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Enhancing Electroretinogram Classification with Multi-Wavelet Analysis and Visual Transformer.Sensors (Basel, Switzerland) · 2023Article
- Optimal Combination of Mother Wavelet and AI Model for Precise Classification of Pediatric Electroretinogram Signals.Sensors (Basel, Switzerland) · 2023Article
- Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19).Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Acquired night blindness due to rod dysfunction after long-term hemodialysis.Japanese journal of ophthalmology · 2022Article
- Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Transient electroretinographic abnormalities that mimic those of KCNV2 retinopathy: a case report.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Vitamin A deficiency after prolonged intake of an unbalanced diet in a Japanese hemodialysis patient.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- A new PDE6A missense variant p.Arg544Gln in rod-cone dystrophy.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Impaired CaInternational journal of molecular sciences · 2021Article
- Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeA single variant (p.G38D) in the GNAT1 gene, encoding the rod-specific transducin α-subunit in phototransduction, has been reported only in one French family with Nougaret-type autosomal dominant congenital stationary night blindness (CSNB). We identified a Japanese family with Nougaret-type CSNB and cone-rod dystrophy (CORD).
methodsFive patients with CSNB and two patients with childhood-onset CORD were recruited. We performed a comprehensive ophthalmic examination including electroretinography (ERG). Disease-causing variants were identified by whole exome sequencing, with candidates confirmed by Sanger sequencing in nine family members.
resultsThe GNAT1 variant (p.G38D) was identified in all four CSNB patients, whereas the two CORD patients carried biallelic truncated known ABCA4 variants as well as the GNAT1 variant. Clinically, no remarkable findings were observed in fuduscopy, fundus autofluorescence, or optical coherence tomography images from the CSNB patients. No response was detectable by rod ERG. The a-waves of standard and bright flash ERG were delayed and broadened rather than biphasic, and b/a-wave amplitude ratio was negative. Cone and 30-Hz flicker responses were normal, and overall, the ERG findings were compatible with previous descriptions of Nougaret-type CSNB. ERG of the CORD patients with macular atrophy showed non-recordable rod response and severely decreased standard flash, cone and 30-Hz flicker responses.
conclusionsThis is the second report of a Nougaret-type CSNB family with the GNAT1 variant. Our novel findings suggest that coexistence of the GNAT1 and biallelic ABCA4 variants is associated with an overlapping phenotype with both Nougaret-type CSNB and CORD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.