Rabinowitz R, Gradstein L, Galil A, Levy J, Lifshitz T
Department of Ophthalmology, Soroka Medical Center, The Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
Eye (Lond). 2004 Dec;18(12):1258-63. doi: 10.1038/sj.eye.6701386.
Weissenbacher-Zweymuller syndrome (WZS) is an autosomal recessive disorder of delayed skeletal maturation. Its characteristic features include rhizomelic dwarfism with metaphyseal and vertebral changes. It has been challenged whether WZS is a part of the spectrum of Stickler syndrome. We report ocular findings in the largest ever-presented series of patients with WZS.
Patients underwent a paediatric examination, including assessment of growth and development, genetic work-up and X-ray of vertebra and long bones. All had a complete ophthalmic examination, cycloplegic refraction, and face and body photography.
All patients had hypertelorism and protruding eyes. Four patients had refractive errors necessitating optical correction ranging from +3 to -8 D. Two patients had strabismus. None had vitreoretinal degeneration, glaucoma, or cataract.
Ocular manifestations of WZS differ from those in Stickler syndrome, indicating that the two likely represent distinct clinical entities. Strabismus and various refractive errors often accompany WZS. An ophthalmologist should follow children with this disorder from an early age to prevent amblyopia.
魏森巴赫-茨韦米勒综合征（WZS）是一种常染色体隐性遗传性骨骼发育延迟疾病。其特征包括近端肢体短小性侏儒症伴干骺端和椎体改变。WZS是否属于施蒂克勒综合征谱系一直存在争议。我们报告了有史以来最大规模的WZS患者系列的眼部检查结果。
患者接受了儿科检查，包括生长发育评估、基因检测以及脊椎和长骨的X线检查。所有患者均进行了全面的眼科检查、散瞳验光以及面部和身体摄影。
所有患者均有眼距增宽和眼球突出。4例患者有屈光不正，需要+3至-8 D的光学矫正。2例患者有斜视。无一例有玻璃体视网膜变性、青光眼或白内障。
WZS的眼部表现与施蒂克勒综合征不同，表明这两种疾病可能代表不同的临床实体。斜视和各种屈光不正常伴随WZS出现。眼科医生应从幼年起就对患有这种疾病的儿童进行随访，以预防弱视。
