ArticleDie Ophthalmologie2023
[Achromatopsia : Clinical aspects, diagnostics, genes, brain and quality of life].
Article in Die Ophthalmologie, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
3 citing papers in PubMed, 2 citations in OpenAlex.
- [Albinism: Clinical presentation, diagnostics and visual function].Die Ophthalmologie · 2026Review
- Scotopic and Photopic Conventional Visual Acuity and Hyperacuity - Binocular Summation.Translational vision science & technology · 2024Article
- Morphological and Functional Aspects and Quality of Life in Patients with Achromatopsia.Journal of personalized medicine · 2023Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Achromatopsia or rod monochromatism is a congenital autosomal recessive retinal dystrophy which leads to dysfunctional cones, with decreased visual acuity, extremely limited color vision, nystagmus and photophobia. Due to the initially normally appearing ocular morphology, the diagnosis is often delayed. With imaging procedures, e.g., fluorescence-autofluorescence (FAF) and optical coherence tomography (OCT), different morphological forms of achromatopsia can be discriminated that do not seem to have a differential effect on visual function. Crucial is the provision of specific edge filters. Mutations in six genes are known to cause achromatopsia. For the two most frequent genes, CNGA3 and CNGB3, gene addition therapies are currently being tested. Such future approaches should be applied before the manifestation of sensory-related amblyopia in the visual cortex. Accordingly, state of the art management of achromatopsia should provide a diagnosis in early childhood including genotyping.
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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.