Carbonic Anhydrase Type II Deficiency Syndrome

Abstract

Researchers at King Saud University, Saudi Arabia and other centers describe the neurological, neuro-ophthalmological and neuroradiological features of 23 patients (10 male, 13 female; age at final exam 2-29 years) from 10 unrelated consanguineous families with carbonic anhydrase type II deficiency syndrome due to homozygous mutation (the ‘Arabic mutation’).

Keywords

• carbonic anhydrase
• neuroimaging studies
• carbonic anhydrase