2023
DOI: 10.1016/j.ajo.2022.11.009
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Incidence of Sturge-Weber Syndrome and Risk of Secondary Glaucoma: A Nationwide Population-based Study Using a Rare Disease Registry

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Cited by 9 publications
(10 citation statements)
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“…Also, in the children with fellow-eye involvement, the frequency of choroidal hemangioma in both first-onset eyes and fellow eyes was significantly higher relative to those without fellow-eye involvement. This result is consistent with a previous nationwide population-based epidemiologic report, which showed a significantly higher frequency of choroidal hemangioma in subjects with SWS-associated glaucoma than in those without glaucoma 2 . These factors could be related to the unknown pathophysiology of the disease, and so further, large-scale longitudinal studies should be conducted in this regard.…”
Section: Discussionsupporting
confidence: 92%
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“…Also, in the children with fellow-eye involvement, the frequency of choroidal hemangioma in both first-onset eyes and fellow eyes was significantly higher relative to those without fellow-eye involvement. This result is consistent with a previous nationwide population-based epidemiologic report, which showed a significantly higher frequency of choroidal hemangioma in subjects with SWS-associated glaucoma than in those without glaucoma 2 . These factors could be related to the unknown pathophysiology of the disease, and so further, large-scale longitudinal studies should be conducted in this regard.…”
Section: Discussionsupporting
confidence: 92%
“…Sturge-Weber syndrome (SWS) is a rare congenital disorder that occurs with a frequency of 1–1.5 per 50,000 1–4 . SWS belongs to the family of neurocutaneous syndromes, as children with SWS typically present at birth with facial port-wine stain (PWS), leptomeningeal abnormalities, and ocular abnormalities 4 .…”
mentioning
confidence: 99%
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“…1 More recent reports have estimated as little as 0.19/100 000/year in a community in Minnesota 2 and as much as 3.08/100 000/year in a population study in Korea. 3 SWS is caused by a somatic mosaic mutation during early fetal development and is typically associated with a facial port-wine birthmark (PWB), leptomeningeal vascular malformation, and glaucoma. The venouscapillary malformations typical of SWS brain involvement results in ischemic changes, calcification, and brain atrophy that varies in severity.…”
Section: Introductionmentioning
confidence: 99%
“…Sturge–Weber syndrome (SWS) is a rare vascular malformation disorder that affects the skin, brain, and eyes at an estimated prevalence rate of about 1 in 20 000 to 1 in 50 000 live births 1 . More recent reports have estimated as little as 0.19/100 000/year in a community in Minnesota 2 and as much as 3.08/100 000/year in a population study in Korea 3 . SWS is caused by a somatic mosaic mutation during early fetal development and is typically associated with a facial port‐wine birthmark (PWB), leptomeningeal vascular malformation, and glaucoma.…”
Section: Introductionmentioning
confidence: 99%