PURPOSE To evaluate the optic disc characteristics of eyes with superior segmental optic hypoplasia (SSOH) using the Heidelberg retina tomograph (HRT). PATIENTS AND METHODS Thirteen eyes of 13 Japanese patients with SSOH were studied with the HRT (software version: 3.0). The group included six males and seven females, with a mean age of 34.7 years. Six optic disc parameters in the six sectors...

The L1 CAM family of cell adhesion molecules and the ankyrin family of spectrin-binding proteins are candidates to collaborate in transcellular complexes used in diverse contexts in nervous systems of vertebrates and invertebrates. This report presents evidence for functional coupling between L1 and 440-kD ankyrin B in premyelinated axons in the mouse nervous system. L1 and 440-kD ankyrin B are...

Congenital aniridia is a rare condition related to a deficiency in the PAX6 gene expression, which may occur as a result of a family inheritance or a sporadic occurrence. Additionally, this condition may occur as an isolated ocular phenotype or in association with a systemic syndrome. The most common abnormality is iris hypoplasia; however, a panocular disease which also affects the cornea, ant...

INTRODUCTION The complete absence of the chiasm (chiasmal aplasia) is a rare clinical condition. Hypoplasia of the optic nerve and congenital nystagmus are almost invariably associated characteristics. Microphthalmos or anophthalmos are common features in chiasmal aplasia, while central nervous system abnormalities are less frequent. Esophageal atresia can be isolated or syndromic. In syndromic...