ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2015
Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04613089 (Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database), which is not on this map. Cited by 1 paper.
What it found
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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.
Natural History and Long Term Clinical Assessments of All Forms of Neuronal Ceroid Lipofuscinoses - Capturing Key Symptoms and Disease Progression as Part of the Independent, International NCL DEM-CHILD Patient Database
Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
- Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).Documenta ophthalmologica. Advances in ophthalmology · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe objective of this study was to establish an ophthalmologic phenotype of heterozygous carriers of juvenile neuronal ceroid lipofuscinosis (CLN3 disease, Batten disease).
methodsThe eyes and vision of nine heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with classical CLN3 mutations were examined using the following methods: clinical examination, visual acuity, ophthalmoscopy, optical coherence tomography (macular thickness and peripapillary retinal nerve fibre layer measurement [RNFL]), fundus autofluorescence measurement, infrared imaging, and full-field and multifocal electroretinogram. Optical coherence tomography and electrophysiological data were statistically compared with age- and sex-matched control groups.
resultsThe basic clinical examination as well as the fundus autofluorescence and infrared images of the macular region were unremarkable. Neither the electrophysiological examinations nor optical coherence tomography yielded fundamental abnormalities. There were only two significant-albeit most likely clinically irrelevant-differences that occurred in comparison to the control group: a decrease in RNFL of the nasal quadrant in the OCT and a prolongation of the N1 implicit time of the second-ring eccentricity in the multifocal electroretinogram.
conclusionsThe eyes and vision of heterozygous carriers of CLN3 disease showed normal features when compared to a control group, which controverts a previously suggested retinal dysfunction in these subjects.
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