ABSTRACT.Purpose: We studied changes in the vision of 16 people after consumption of a small quantity of alcohol, at a blood alcohol level (BAL) of 0.57 g/kg. Methods: We studied visual contrast sensitivity (VCS) using Vistech VCTS 6500, visual evoked potential (VEP) by checked pattern stimulations and the peripheral visual field (PVF) with a perimetric automatic Humphrey. We first carried out the tests on sober people and then on individuals with a BAL of 0.57 g/kg. Results: Alcohol consumption caused no significant difference in performance for these 3 tests. However, at a BAL of 0.57 g/kg there was a decrease in cerebral function, as shown by an increase in the number of mistakes made in the Wisconsin Card Sorting Test. Conclusion: These results suggest that for a low blood alcohol level, visual performance is less affected by the visual changes than by alteration in brain functions.

Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition.

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