Ocular findings of Beals syndrome
| Autor: | Tadashi Shiroma, Shoichi Sawaguchi, Sugie Takaesu-Miyagi, Yusei Funakoshi, Kazuhisa Hayakawa, Hiroshi Sakai |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Marfan syndrome
Adult Male medicine.medical_specialty Contracture genetic structures Optic Disk Ultrasound biomicroscopy Glaucoma Lens Crystalline Optic Nerve Diseases medicine Humans Coloboma Bone Diseases Developmental business.industry General Medicine Syndrome medicine.disease eye diseases Hypoplasia Surgery Sclera Ophthalmology medicine.anatomical_structure Child Preschool sense organs Joint Diseases business Fibrillin Optic disc |
| Zdroj: | Japanese journal of ophthalmology. 48(5) |
| ISSN: | 0021-5155 |
| Popis: | 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. 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. 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. 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. |
| Databáze: | OpenAIRE |
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