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  • Title: Ophthalmic findings in Apert's syndrome after craniofacial surgery: twenty-nine years' experience.
    Author: Khong JJ, Anderson P, Gray TL, Hammerton M, Selva D, David D.
    Journal: Ophthalmology; 2006 Feb; 113(2):347-52. PubMed ID: 16458095.
    Abstract:
    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 < or =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). Anisometropia of > or =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.
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