ArticleThe British journal of ophthalmology2003
Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
Article in The British journal of ophthalmology, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Concomitant Calcium Channelopathies InvolvingGenes · 2023Pooled it
- Understanding the phenotype of genetically associated electronegative ERG retinopathies: comparing the full-field ERG b:a ratio.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Article
- Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.Ophthalmology. Retina · 2024Article
- Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights.Eye (London, England) · 2021Review
- Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.Genes · 2021Article
- Optic Atrophy and Inner Retinal Thinning inGenes · 2021Article
- Extracting the ON and OFF contributions to the full-field photopic flash electroretinogram using summed growth curves.Experimental eye research · 2019Article
- Phenotypic characterization of complete CSNB in the inbred research beagle: how common is CSNB in research and companion dogs?Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- ISCEV extended protocol for the photopic On-Off ERG.Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.The British journal of ophthalmology · 2015Article
- Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness.Scientific reports · 2015Article
- Assessment of night vision problems in patients with congenital stationary night blindness.PloS one · 2013Article
- Congenital blindness and visual impairment cause infection or non infection.Materia socio-medica · 2013Article
- A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.PloS one · 2013Article
- Retinal dystrophies and gene therapy.European journal of pediatrics · 2012Review
- Negative electroretinograms in the pediatric and adult population.Documenta ophthalmologica. Advances in ophthalmology · 2012Article
- A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.Molecular vision · 2011Article
- A negative electroretinogram (ERG) in a case of probable multiple system atrophy (MSA).Documenta ophthalmologica. Advances in ophthalmology · 2009Article
- Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.Human molecular genetics · 2008Article
- Photopic ON- and OFF-responses in complete type of congenital stationary night blindness in relation to stimulus intensity.Documenta ophthalmologica. Advances in ophthalmology · 2008Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
aimTo correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype.
methods11 CSNB families were diagnosed with the X linked form of the disease by clinical evaluation and mutation detection in either the NYX or CACNA1F gene. Phenotype of the CSNBX patients was defined by clinical examination, psychophysical, and standardised electrophysiological testing.
resultsComprehensive mutation screening identified NYX gene mutations in eight families and CACNA1F gene mutations in three families. Electrophysiological and psychophysical evidence of a functioning but impaired rod system was present in subjects from each genotype group, although the responses tended to be more severely affected in subjects with NYX gene mutations. Scotopic oscillatory potentials were absent in all subjects with NYX gene mutations while subnormal OFF responses were specific to subjects with CACNA1F gene mutations.
conclusionsNYX gene mutations were a more frequent cause of CSNBX than CACNA1F gene mutations in the 11 British families studied. As evidence of a functioning rod system was identified in the majority of subjects tested, the clinical phenotypes "complete" and "incomplete" do not correlate with genotype. Instead, electrophysiological indicators of inner retinal function, specifically the characteristics of scotopic oscillatory potentials, 30 Hz flicker and the OFF response, may prove more discriminatory.
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.