Article
Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure.
Developmental medicine and child neurology - 1 Nov 2021
Olson Heather E, Costantini Julia G, Swanson Lindsay C, Kaufmann Walter E, Benke Timothy A, Fulton Anne B, Hansen Ronald, Poduri Annapurna, Heidary Gena
Abstract excerpt
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...
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