ReviewDer Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft2021
[Ophthalmological manifestations of neuronal ceroid lipofuscinoses (NCL) : NCL as diseases of brain and retina-the role of ophthalmologists].
Review in Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2021. 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
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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.
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Retinal Degeneration and Microglial Dynamics in Mature Progranulin-Deficient Mice.International journal of molecular sciences · 2021Article
- Progranulin Insufficiency Affects Lysosomal Homeostasis in Retinal Pigment Epithelium.In vivo (Athens, Greece)Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeuronal ceroid lipofuscinoses are hereditary lysosomal storage diseases, which lead to a progressive neurodegeneration of the brain and retina. Visual loss can be the initial symptom but can also occur later in the course of the disease.
objectiveThe aim of this article is to provide ophthalmologists with an overview of the characteristic ocular alterations and the general disease course of the 13 currently known various forms of NCL. MATERIAL AND
methodsThe findings from predominantly clinical articles are reviewed and summarized. RESULTS AND
conclusionRetinal degeneration plays a crucial role in this group of neurodegenerative diseases. In several forms visual decline is the initial clinical symptom in affected patients. Therefore, the ophthalmologist is the first medical expert consulted. An early diagnosis is crucial for the future personal and family planning but is also important regarding upcoming therapeutic strategies, which might be much more effective in patients with early stage disease. When the presence of retinal degeneration due to an NCL disease is suspected an immediate genetic diagnostic confirmation and collaboration with neuropediatricians is recommended.
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Registered trials
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