Vision Impairment with an Interstitial Deletion of the Short Arm of Chromosome 8

Abstract

We describe the phenotype of a male infant with an interstitial deletion of the short arm of chromosome 8 (p. 11.2–p. 21). Visual impairment is a major feature in this case. The clinical, radiographic and electrodiagnostic findings are presented. Only four other cases have been reported in which visual problems are associated with a deletion of 8 p.

Keywords:

• Chromosome 8
• visual impairment
• nystagmus
• optic dysplasia