ArticleThe British journal of ophthalmology2021
A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot.
Article in The British journal of ophthalmology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00029965 (Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders), which is not on this map. Cited by 3 papers.
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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 of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Who cites it
3 citing papers in PubMed, 9 citations in OpenAlex.
- Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report.Frontiers in pediatrics · 2023Article
- A novel spot mutation leading to sialidosis type 1-myoclonus syndrome and optical coherence tomography findings.Arquivos brasileiros de oftalmologia · 2023Article
- Looking "Cherry Red Spot Myoclonus" in the Eyes: Clinical Phenotype, Treatment Response, and Eye Movements in Sialidosis Type 1.Tremor and other hyperkinetic movements (New York, N.Y.) · 2021Article
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
aimTo describe the ophthalmologic findings on the largest cohort of patients with sialidosis type I due to deficiency of the lysosomal sialidase, neuraminidase 1 (NEU1) and to introduce a quantitative neuroretinal image analysis approach to the associated 'macular cherry-red spot'.
methodsSeven patients with sialidosis type I (mutations in
resultsThe mean age of the patients at their first visit was 27.5+9.8 years. All patients had a macular cherry-red spot, clear corneas and visually non-significant lenticular opacities. The mean visual acuity was LogMar 0.4 (20/50)+0.4 (20/20 to 20/125). Six patients had good visual function. Optic atrophy was present in two individuals with reduced acuity. A significant increase in macular reflectivity was present in all patients compared to age-matched controls (p<0.0001).
conclusionMost of our patients (75%) have preserved visual acuity, even in adulthood. The presence of optic atrophy is associated with poor visual acuity. Increased macular reflectivity by OCT greyscale measurements is noted in all patients, although the underlying biological basis is unknown. These findings complement the current methods for examining and monitoring disease progression, especially in patients for whom visualisation of the cherry-red spot is not entirely clear. TRIAL REGISTRATION NUMBER: NCT00029965.
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