The ocular manifestations of Weissenbacher-Zweymuller syndrome

Purpose. 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. Methods. 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. Results. 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. Conclusions. 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.