ArticleMedizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V2025
The value of genetic testing in pediatric and adult ophthalmology.
Article in Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 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
2 citing papers in PubMed.
- Patient-Reported Social Impact of Molecularly Confirmed Macular Dystrophies and Cone-Rod Dystrophies.Journal of clinical medicine · 2025Article
- Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa.Journal of clinical medicine · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal dystrophies and optic neuropathies (IRD) are the most frequent cause for vision loss in the working age. The huge variability of phenotypes and initial clinical presentation frequently delay the ophthalmologic diagnosis. The most frequent phenotypes are retinitis pigmentosa, macular dystrophies, cone-rod dystrophies and syndromes associated with IRDs. Causative gene variants have been identified in more than 300 genes, with a frequency variation between different ethnicities. In this series of 1 914 patients seen in Germany between 1995 and 2024, in 47.4 % of families the genetic background could be solved. Even with a common genotype, the phenotype can be variable. Genetic diagnostic testing is important for the correct diagnosis, for patient selection for current or future therapies, but also from the patient perspective.
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.