Ophthalmic Findings in Apert’s Syndrome after Craniofacial Surgery Twenty-nine Years’ Experience Jwu Jin Khong, MBBS (Hons), 1 Peter Anderson, MD, 2 Timothy L. Gray, MBBS, 3 Michael Hammerton, FRANZCO, 2,4 Dinesh Selva, FRANZCO, 1 David David, MD 2,5 Purpose: To survey the spectrum of ophthalmic morbidity in Apert’s syndrome after craniofacial surgery. Design: A retrospective study of patients with Apert’s syndrome managed at the Australian Craniofacial Unit from 1975 to 2004. Participants: Sixty-one patients (31 females and 30 males) had final ophthalmic reviews at a mean age of 9.3 years (standard deviation, 9.2; range, 0.2– 48.3; median, 8.2 years). Methods: Patients were identified from the unit database, and case notes were reviewed. Cases that had 2 recorded variables were excluded. Demographic details, age at last ophthalmic review, and total craniofacial operations performed were documented. Main Outcome Measures: Best-corrected visual acuity, cycloplegic refractions, strabismus, amblyopia, corneal abnormality, fundoscopic findings, and visually evoked potentials. Results: The average number of craniofacial operations performed was 2 (range, 1– 4; median, 2). Visual impairment was found in 54% of patients in at least one eye and in 19% of patients in their better eye. The most common cause was amblyopia, with a prevalence of 35%. Optic atrophy caused visual impairment in 5% of patients and corneal scarring in 8%. Sixty-three percent of patients had strabismus with more esotropia than exotropia. Ametropia was found in 69% of patients (42% were hypermetropic and 27% were myopic). Aniso- metropia of 0.75 diopters was present in 16 cases (50%). Conclusions: Visual impairment is a common finding in Apert’s syndrome and amblyopia is the major cause. Ametropia, astigmatism, anisometropia, and strabismus frequently occur in patients with Apert’s syndrome at final ophthalmic review. Although optic atrophy was the major cause of visual loss in the era prior to craniofacial surgery, the prevalence of optic atrophy is low since the adoption of current surgical protocols. Corneal damage also contributed toward visual impairment. Early detection and adequate management of amblyopia, timely decompressive surgery before the presence of optic atrophy, and protection of the cornea should be the management goals of ophthalmologists in craniofacial units managing these patients. Ophthalmology 2006;113: 347–352 © 2006 by the American Academy of Ophthalmology. Apert’s syndrome is a severe autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet. 1,2 It is one of the most common craniofacial synostosis syndromes, yet it is a rare condition with an estimated prevalence of 12.5 to 15.5 cases per million live births. 3,4 Most reports on past ocular findings are either small series or case reports, or large combined studies of various craniosynostoses syndromes. 5–10 There are little data on the prevalence of ophthalmic manifestations in Apert’s syn- drome. The Australian Craniofacial Unit has reviewed a large series of patients with Apert’s syndrome from within Australia, South East Asia, and Central Asia during the last 29 years. The aim of this study is to determine the spectrum of ophthalmic sequelae in Apert’s syndrome after craniofa- cial surgery. Patients and Methods Eighty-seven patients with Apert’s syndrome who were treated between 1975 and 2004 were identified from the Australian Originally received: February 10, 2005. Accepted: October 11, 2005. Manuscript no. 2005-128. 1 Oculoplastic and Orbital Division, Departments of Ophthalmology and Visual Sciences, Medicine and Surgery, Royal Adelaide Hospital, Univer- sity of Adelaide, Adelaide, Australia. 2 Australian Craniofacial Unit, Women’s and Children’s Hospital, North Adelaide, Australia. 3 Department of Physiology and Pharmacology, Lions Eye Institute, Ned- lands, Australia. 4 Harley Eye Clinic, North Adelaide, Australia. 5 Australian Craniofacial Unit Institute, University of Adelaide, North Adelaide, Australia. The authors have no proprietary interest in any of the information pre- sented in the article. Correspondence to Jwu Jin Khong, Royal Adelaide Hospital, Department of Ophthalmology, North Terrace, Adelaide, SA 5000, Australia. E-mail: jjkhong@yahoo.com. 347 © 2006 by the American Academy of Ophthalmology ISSN 0161-6420/06/$–see front matter Published by Elsevier Inc. doi:10.1016/j.ophtha.2005.10.011