Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.

ABSTRACT:

Background

The nosological assignment of congenital ocular motor apraxia type Cogan (COMA) is still controversial. While regarded as a distinct entity by some authorities including the Online Mendelian Inheritance in Man catalog of genetic disorders, others consider COMA merely a clinical symptom.

Methods

We performed a retrospective multicenter data collection study with re-evaluation of clinical and neuroimaging data of 21 previously unreported patients (8 female, 13 male, ages ranging from 2 to 24 years) diagnosed as having COMA.

Results

Ocular motor apraxia (OMA) was recognized during the first year of life and confined to horizontal pursuit in all patients. OMA attenuated over the years in most cases, regressed completely in two siblings, and persisted unimproved

SUBMITTER: Wente S 

PROVIDER: S-EPMC4966602 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature