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.
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.
Authors: Rinki Ratnapriya; Xiaowei Zhan; Robert N Fariss; Kari E Branham; David Zipprer; Christina F Chakarova; Yuri V Sergeev; Maria M Campos; Mohammad Othman; James S Friedman; Arvydas Maminishkis; Naushin H Waseem; Matthew Brooks; Harsha K Rajasimha; Albert O Edwards; Andrew Lotery; Barbara E Klein; Barbara J Truitt; Bingshan Li; Debra A Schaumberg; Denise J Morgan; Margaux A Morrison; Eric Souied; Evangelia E Tsironi; Felix Grassmann; Gerald A Fishman; Giuliana Silvestri; Hendrik P N Scholl; Ivana K Kim; Jacqueline Ramke; Jingsheng Tuo; Joanna E Merriam; John C Merriam; Kyu Hyung Park; Lana M Olson; Lindsay A Farrer; Matthew P Johnson; Neal S Peachey; Mark Lathrop; Robert V Baron; Robert P Igo; Ronald Klein; Stephanie A Hagstrom; Yoichiro Kamatani; Tammy M Martin; Yingda Jiang; Yvette Conley; Jose-Alan Sahel; Donald J Zack; Chi-Chao Chan; Margaret A Pericak-Vance; Samuel G Jacobson; Michael B Gorin; Michael L Klein; Rando Allikmets; Sudha K Iyengar; Bernhard H Weber; Jonathan L Haines; Thierry Léveillard; Margaret M Deangelis; Dwight Stambolian; Daniel E Weeks; Shomi S Bhattacharya; Emily Y Chew; John R Heckenlively; Gonçalo R Abecasis; Anand Swaroop Journal: Hum Mol Genet Date: 2014-06-04 Impact factor: 6.150
Authors: Roberto Gallego-Pinazo; Ruth López-Lizcano; José María Millán; J Fernando Arevalo; J Luis Mullor; Manuel Díaz-Llopis Journal: Clin Ophthalmol Date: 2010-08-09