Apple peel atresia in association with bilateral colobomatous malformation of the optic nerve heads, dysmorphic features, and learning disability - a new syndrome?

Apple peel atresia of the small bowel is a rare congenital cause of intestinal obstruction. This case report describes a male patient with apple peel atresia and bilateral colobomatous malformation of the optic nerve heads in association with dysmorphic features and learning disabilities. In the absence of a positive family history, we propose that this collection of clinical findings could be due to a new dominant mutation or chromosomal microdeletion.

Vitrectomy for vitreous opacification in Fuchs' heterochromic uveitis.

PURPOSE: To assess the role of pars plana vitrectomy (PPV) for symptomatic vitreous opacification in a series of patients with Fuchs' heterochromic uveitis (FHU). METHODS: A retrospective review was undertaken of 13 patients with FHU who underwent vitrectomy for vitreous opacification between April 1989 and December 1998. RESULTS: An improvement in visual symptoms was recorded in all patients, 9 of 13 (69%) demonstrating at least a 2 line increase in Snellen visual acuity. All but one patient attained 6/9 or better visual acuity post-operatively. Surgery was uneventful and did not appear to exacerbate any existing intraocular inflammation. CONCLUSION: From this series we conclude that PPV has an important role in the management of patients with FHU who present with symptomatic vitreous opacification.