Purpose Optic nerve hypoplasia (ONH) is one of the leading causes of blindness among children. The purpose of this retrospective study is to determine the risk factors and association between brain MRI findings, pituitary abnormalities and endocrine disorders with the presence of ONH.
Methods A retrospective review of patients seen at paediatric ophthalmology clinics from January 2006 to December 2016 at Children’s Hospital and Medical Center and the University of Nebraska Medical Center was performed. All patients with a documented diagnosis of ONH or septo-optic dysplasia were identified. MRI and endocrinology results were analysed by masked examiners.
Results Out of 77 patients, overall incidence of abnormal pituitary on MRI was 35.1% and the incidence of endocrine abnormalities was 37.7%. Of the 57 patients with bilateral ONH, 23 (40.4%) had an abnormal pituitary while 4 of the 20 patients (20.0%) with unilateral ONH had an abnormal pituitary on MRI. The sensitivity and specific of brain MRI as signs of endocrinopathy are 67.9% and 83.3%, respectively.
Conclusion This study has determined that abnormal MRI findings do not have the sensitivity to predict endocrinopathy, nor does a normal MRI rule out possible endocrine abnormalities. When patients with ONH present with normal neurological examinations, normal endocrine workup and normal developmental milestones, a MRI of the brain may be deferred until new indications arise. Regardless of the MRI status, children with ONH should have a comprehensive endocrine evaluation and continue to have routine endocrine follow-up.
- optic nerve
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Contributors XQ and MD, contributed to analysis and interpretation of the data, writing and final approval and agreed to be accountable for all aspects of the work. SFJ and MD, contributed to data acquisition, writing and final approval and agreed to be accountable for all aspects of the work. LAM and OD, contributed to analysis, critical revisions and final approval and agreed to be accountable for all aspects of the work. TK and MD, contributed to analysis, writing and final approval and agreed to be accountable for all aspects of the work. MC and MD, contributed to interpretation of the data, writing and final approval and agreed to be accountable for all aspects of the work. DWS and MD, contributed to the conception of the work, critical editing and final approval and agreed to be accountable for all aspects of the work.
Competing interests None declared.
Ethics approval University Nebraska Medical Center, Omaha, Nebraska, USA.
Provenance and peer review Not commissioned; externally peer reviewed.