Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.

ABSTRACT:

Aim

To characterize the neuro-ophthalmological phenotype of cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) and assess visual acuity as a reproducible, quantitative outcome measure.

Method

We retrospectively analyzed clinical data from patients with CDD. Complete neuro-ophthalmological assessments, including visual acuity, were evaluated.

Results

Of 26 patients (22 females, four males; median age 4y, interquartile range 2y 1mo-7y 10mo), cerebral visual impairment (CVI), defined as visual dysfunction in the absence of ocular or anterior visual pathway abnormalities, was diagnosed in all those over 2 years of age. Ophthalmological examinations revealed nystagmus in 10 patients and strabismus in 24 patients. Visual acuity was measured in 24 patients, by

SUBMITTER: Olson HE 

PROVIDER: S-EPMC8782241 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature