Neuroimaging and clinical features of patients with optic nerve hypoplasia in Taiwan

Hui-Chen Cheng; May-Yung Yen; An-Guor Wang

doi:10.1016/j.tjo.2014.11.001

Neuroimaging and clinical features of patients with optic nerve hypoplasia in Taiwan

Taiwan J Ophthalmol. 2015 Jan-Mar;5(1):15-18. doi: 10.1016/j.tjo.2014.11.001. Epub 2015 Jan 20.

Authors

Hui-Chen Cheng^{1

2}, May-Yung Yen^{1

2}, An-Guor Wang^{1

2}

Affiliations

¹ Section of Neuro-ophthalmology & Strabismus, Department of Ophthalmology, Taipei Veterans General Hospital, Taipei, Taiwan.
² Department of Ophthalmology, School of Medicine, National Yang-Ming University, Taipei, Taiwan.

Abstract

Purpose: To investigate the clinical and neuroradiographic features of Chinese patients with optic nerve hypoplasia (ONH).

Methods: This was a retrospective case series study. The medical records and magnetic resonance imaging (MRI) studies of patients diagnosed with ONH from September 2001 to December 2013 in the neuro-ophthalmology clinic of Taipei Veterans General Hospital were reviewed.

Results: A total of eight eyes of five patients with ONH were enrolled in this study (1 male, 4 females). The mean age at diagnosis was 14.5 ± 12.0 years (range 0.25-30 years). Ocular examination revealed approximately half of the eyes had tortuous retinal vessels. In MRI studies, all patients had midline brain abnormalities including ectopic posterior pituitary gland (60%), agenesis of septum pellucidum (20%), and Rathke's cleft cyst (20%). Two patients had endocrinopathies-one suffered from hypopituitarism and the other had hyperprolactinemia. Both of them showed ocular findings of tortuous retinal vessels.

Conclusion: A high prevalence of midline brain abnormalities was noted in ONH patients of Chinese ethnicity. The presence of tortuous retinal vessels in patients with a midline brain anomaly may indicate the occurrence of endocrinopathy.

Keywords: endocrinopathy; magnetic resonance imaging; optic nerve hypoplasia.