Ocular Phenotype of the Nance–Horan Syndrome

Abstract

Abstract: : Purpose: To describe the range of expression of the Nance–Horan gene in the eye in order to recognise new cases in the hope that making the correct diagnosis may positively influence the management of affected individuals. Methods: The eyes of 4 families, seen in London, in whom the clinical diagnosis of Nance Horan syndrome had been confirmed by molecular testing and additional families with sufficient clinical signs to consider a clinical diagnosis were examined. The findings were compared to those of cases seen in our Australian and Newcastle pedigrees and on a review of the literature. Results: Whilst most males had mild microcornea in association with dense cataract at birth, involvement may be milder and asymmetrical. Whilst most females are only mildly affected dense cataract may occur asymmetrically. Pseudocupping of the optic disc is a new previously unreported feature. This is a disorder with increased risk of expulsive haemorrhage at intraocular surgery. Conclusions: The spectrum of ocular involvement is wider than previously reported.

Keywords: cataract • gene/expression • clinical (human) or epidemiologic studies: natural history