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

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

Hui-Chen Cheng  1   2 , May-Yung Yen  1   2 , An-Guor Wang  1   2
Affiliations

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

Hui-Chen Cheng et al. Taiwan J Ophthalmol. 2015 Jan-Mar.

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.

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Conflict of interest statement

Conflicts of interest: All contributing authors declare no conflicts of interest.

Figures

Fig. 1
Fig. 1
Bilateral optic nerve hypoplasia (ONH) with agenesis of septum pellucidum on neuroimaging (Case 1). (A) Computer tomography showed atrophy of the right optic nerve. (B) T1-weighted magnetic resonance imaging (MRI) revealed atrophy of bilateral optic nerves. Absent septum pellucidum was demonstrated on (C) axial view (T1-weighted MRI) and (D) coronal view (T1-weighted contrast MRI).
Fig. 2
Fig. 2
Bilateral optic nerve hypoplasia (ONH) with ectopic posterior pituitary gland on magnetic resonance imaging (MRI) (Case 2). (A, B) Fundus photography showed a small optic disc in both eyes and tortuous retinal veins in the left eye. (C, D) T1-weighted contrast MRI showed ectopic posterior pituitary gland on coronal view (arrow) and sagittal view (arrowhead).
Fig. 3
Fig. 3
Bilateral optic nerve hypoplasia (ONH) with tortuosity of retinal vessels and intrasellar Rathke's cleft cyst on magnetic resonance imaging (MRI) (Case 5). (A, B) Fundus photography showed tortuous retinal vessels, which were more prominent in the right eye. (C, D) T1-weighted contrast MRI showed intrasellar Rathke's cleft cyst on coronal view (arrow) and sagittal view (arrowhead).
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