Abstract:
BACKGROUND:In this report of two Okinawan patients with Beals syndrome and accompanying ocular complications, the symptoms of Beals syndrome and Marfan syndrome are compared. The etiology of these two syndromes is considered in relation to fibrillin. CASES:Case 1 was a 5-year-old boy who showed blue sclera and bilateral enlargement of optic disc cupping. Case 2 was a 24-year-old man who had partial coloboma of the lens, mild cataract, and bilateral glaucomatous disc cupping. OBSERVATIONS:Beals syndrome was diagnosed in these two patients based on the initial examination. In further investigations, while the patients were being observed without treatment, the intra ocular pressure of both patients remained within normal range. Funduscopy showed that the cup-to-disc ratio was 0.8 bilaterally in both patients. Case 1 was followed up for 6 years with no changes. Ultrasound biomicroscopy examination in case 2 revealed hypoplasia of the ciliary body, leading to a diagnosis of glaucoma. This patient remains under observation. CONCLUSIONS:Two cases of Beals syndrome with ocular complications including glaucomatous optic disc cupping are reported. Ophthalmic examinations are recommended to identify the ocular complications of Beals syndrome. Further studies are needed to elucidate the relation between fibrillin abnormality and ocular complications in Beals syndrome.
journal_name
Jpn J Ophthalmoljournal_title
Japanese journal of ophthalmologyauthors
Takaesu-Miyagi S,Sakai H,Shiroma T,Hayakawa K,Funakoshi Y,Sawaguchi Sdoi
10.1007/s10384-004-0106-7keywords:
subject
Has Abstractpub_date
2004-09-01 00:00:00pages
470-4issue
5eissn
0021-5155issn
1613-2246journal_volume
48pub_type
杂志文章abstract::We studied family members of 9 patients with falciform retinal fold, and found a number of cases showing features of familial exudative vitreoretinopathy (FEVR) in the fundi. Retinal fold was also seen in the eye of a cousin of the propositus. Three cases with falciform retinal fold were bilateral and 7 cases were uni...
journal_title:Japanese journal of ophthalmology
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更新日期:1983-01-01 00:00:00
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pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章,多中心研究
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pub_type: 杂志文章,收录出版
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journal_title:Japanese journal of ophthalmology
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doi:
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journal_title:Japanese journal of ophthalmology
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doi:
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doi:
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
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journal_title:Japanese journal of ophthalmology
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doi:
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
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journal_title:Japanese journal of ophthalmology
pub_type: 杂志文章
doi:
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