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Author Notes:

Heather Olson, MD, MS, Boston Children’s Hospital, 300 Longwood Ave., Mailstop 3063, Boston, MA 02115. Telephone: 617-355-7970, Fax: 617-730-4850. Email: heather.olson@childrens.harvard.edu

We thank the patients and families who participated in the CDKL5 Center for Excellence at Boston Children’s Hospital. We thank our colleagues who referred families to our center, our clinical colleagues at BCH who evaluated patients in the CDKL5 Center, and our collaborators in the other CDKL5 Centers of Excellence. We thank Shaye Moore, Elizabeth Jarvis, and Hanna De Bruyn for editing and formatting support. This study was supported by the National Institute of Neurologic Disorders and Stroke (K23 NS107646-02, PI Olson) and the International Foundation for CDKL5 research (PI Olson, supported JAC and LCS) with administrative core support through Boston Children’s Hospital IDDRC (1U54HD090255). WEK was supported by the International Foundation for CDKL5 Research and Rettsyndrome.org. TAB was supported by International Foundation for CDKL5 Research, NIH/NICHD U54 HD061222, and the Children’s Hospital Colorado Foundation Ponzio Family Chair in Neurology Research. ABF was supported by the Massachusetts Lions Eye Research Fund. RH was supported by the Massachusetts Lions Eye Research Fund. AP was supported by the Boston Children’s Hospital Translational Research Program.

HEO received consulting fees from Takeda Pharmaceuticals regarding clinical trial design; this study involves identification of a biomarker potentially relevant for future clinical trials. WEK is a member of the Scientific Advisory Boards for the International Foundation of CDKL5 Research and the CDKL5 Research Collaborative and a member of the Medical Advisory Board for the International Rett Syndrome Foundation and the Scientific Advisory Board of the International FOXG1 Foundation. WEK reports consulting with the following companies: Anavex Life Sciences Corp., Neuren Pharmaceuticals, Marinus Pharmaceuticals SpA, GW Pharmaceuticals, Biohaven, AveXis (Novartis), Zynerba Pharmaceuticals, Stalicla, Ovid Therapeutics. TAB reports consultancy for AveXis, Ovid, GW Pharmaceuticals, International Rett Syndrome Foundation, Takeda, and Marinus; Clinical Trials with Acadia, Ovid, GW Pharmaceuticals, Marinus and Rett Syndrome Research Trust; all remuneration has been made to his department. JAC, LCS, ABF, RH, AP, and GH report no disclosures relevant to the content of the manuscript.



  • Science & Technology
  • Life Sciences & Biomedicine
  • Clinical Neurology
  • Pediatrics
  • Neurosciences & Neurology

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


Journal Title:



Volume 63, Number 11


, Pages 1308-1315

Type of Work:

Article | Post-print: After Peer Review


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 preferential looking in all and by sweep visual evoked potential in 13. Visual acuities were lower than age expectations and demonstrated improvement in the first 3 years. Adjusting for age and sex, average preferential looking visual acuity after 2 years of age was higher in patients with intact mobility than in those who were non-mobile. Interpretation: CVI was observed in patients with CDD. Visual acuity improved over time and correlated with mobility. Visual acuity, as a quantifiable measure of visual function, should be considered as an outcome measure in pre-clinical and clinical studies for CDD. What this paper adds Cerebral visual impairment is highly prevalent in cyclin-dependent kinase-like 5 deficiency disorder (CDD). Visual acuity is a measurable quantitative outcome measure in CDD. Visual acuity in CDD correlates with gross motor ability.
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