An XX Male With Microphthalmos and Sclerocornea

Abstract

INTRODUCTION Microphthalmos is a severe congenital ophthalmic disease. As knowledge of gene locus for hereditary ocular diseases expands, so does the number of the Xp-Jinked ophthalmic disease (Table).1 A percentage of microphthalmos appears to be caused by the abnormal X chromosome. Microphthalmos and linear skin defects (MLS) syndrome (MIM309801) is a good illustration. This syndrome is a developmental disorder observed in XX individuals with distal Xp segmentai monosomy, or deletions and unbalanced translocations involved in the Xp22.3 region.2-6 Al Gazali2 described a Caucasian XX male with bilateral microphthalmos. This case was further described by Lindsay3 as MLS syndrome. Al Gazali4 reported two MLS syndrome female with de novo X;Y translocations. Their eye findings included microphthalmos, corneal opacities, and orbital cysts on the left side. Temple5 reported a Xp22.2-pter MLS syndrome female with left side microphthalmos. Lindor6 reported a MLS syndrome female with an Xp22.3 microdeletion and a chromosome satellite on the abnormal Xp-arm. Her eye findings were bilateral microphthalmos, sclerocornea, and cataracts. The phenotype of MLS syndrome is various. The dermal lesions of the patients are limited to the face and neck, and varies from slight to severe. MLS syndrome is recognized to be contiguous gene syndrome.3