Ocular findings of Beals syndrome.

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 Ophthalmol

authors

Takaesu-Miyagi S,Sakai H,Shiroma T,Hayakawa K,Funakoshi Y,Sawaguchi S

doi

10.1007/s10384-004-0106-7

keywords:

subject

Has Abstract

pub_date

2004-09-01 00:00:00

pages

470-4

issue

5

eissn

0021-5155

issn

1613-2246

journal_volume

48

pub_type

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