Ocular findings of Beals syndrome.
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.


METHODS
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.


METHODS
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.
Department of Ophthalmology, School of Medicine, Ryukyu University, Okinawa 903-0215, Japan. dr-ganka@med.u-ryukyu.ac.jp.
Sugie
S
Takaesu-Miyagi
Hiroshi
H
Sakai
Tadashi
T
Shiroma
Kazuhisa
K
Hayakawa
Yusei
Y
Funakoshi
Shoichi
S
Sawaguchi
D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis*; D002675:Child, Preschool; D003103:Coloboma / Q000175:diagnosis*; D003286:Contracture; D005901:Glaucoma / Q000175:diagnosis*; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis*; D007908:Lens, Crystalline / Q000002:abnormalities*; D008297:Male; D009898:Optic Disk / Q000473:pathology*; D009901:Optic Nerve Diseases / Q000175:diagnosis*; D013577:Syndrome