Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: Report of four cases

Abstract

PurposeHallermann-Streiff-Francois syndrome (HSS) is a rare genetic disorder characterised by ocular and craniofacial anomalies. The purpose of this report is to highlight the ophthalmological features in four such patients and outcomes of cataract surgery.Patients and methodsRetrospective review of medical records of patients with cataract and/or microcornea due to HSS was done. Presenting features, ocular findings, ocular motility and visual outcomes were noted.ResultsWe identified four children with microcornea/cataract who had associated clinical features suggestive of HSS. Mean age at presentation was 25.5±27.8 months. Three children presented with poor vision in both eyes and one with strabismus. All patients had a microcornea and microphthalmos. Three patients had a membranous cataract. Horizontal corneal diameter ranged from 5.5 to 10.5 mm and axial length ranged from 12 to 18 mm. Three patients had associated strabismus. Three patients underwent lens extraction and two underwent strabismus surgery. Best corrected visual acuity (BCVA) improved from fixing, following light to a median post-operative BCVA of 20/380. One eye developed retinal detachment.ConclusionChildren with HSS present with membranous cataracts, microcornea and microphthalmos and present surgical challenges. Though the patients were mostly left aphakic, all showed moderate visual improvement.