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

The study included only 26 patients from one center, so results may not apply to all children with CDKL5 deficiency disorder. Thirteen of 42 suspected patients were excluded because they did not have an ophthalmology assessment at the center, which may have selected for patients with more eye-related concerns. Visual acuity testing was not done in all patients, and only 16 patients had Preferential Looking acuity data at 2 years or older. The comparison with controls used published norms rather than a concurrent control group measured in the same way. Small numbers made it difficult to test the effects of sex, genotype, mosaicism, vigabatrin dose, and other anti-seizure medications. EEG and acuity testing did not always occur at the same time points, so changes in seizures or EEG could not be matched to changes in acuity. The authors did not have enough vigabatrin-naive comparison data to determine whether vigabatrin affected the rate of acuity change during development. The study did not test whether vision treatment improves motor, communication, or daily function.

The supplied text does not include a conflict of interest statement. The publication types list NIH extramural and non-U.S. government research support. No sponsor role in design, writing, or analysis is reported.

Do not conclude that poor vision caused limited mobility or that vision therapy will improve walking. The 5.1 cycles per degree difference was an association in 26 patients from one center, and seizures, medications, and developmental impairment may affect both vision and mobility.