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D.M. Cestari, J.F. Rizzo; Visual Field Loss Associated With Optic Nerve Tilting or Congenitally Enlarged Optic Nerve Cups—A Variant of Optic Nerve Hypoplasia? . Invest. Ophthalmol. Vis. Sci. 2003;44(13):617.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose: To characterize a series of patients who have findings that are assumed to be consistent with a congenital defect of optic nerve development, but without funduscopic features of classically described optic nerve hypoplasia. Methods: Retrospective review of charts of patients within the Neuro-ophthalmology service who had been characterized with non-progressive visual field loss in the absence of elevated intra-ocular pressure or acquired neuro-ophthalmic disease who had tilted optic nerve heads or congenitally enlarged optic nerve cups. Results: Ten cases were identified. All patients had visual field loss in patterns consistent with an optic neuropathy. Eight cases associated with tilted optic nerve heads were identified. Two cases had funduscopic features typically associated with congenital enlargement of the optic cup, without features of acquired pathological cupping. Conclusions: These cases are distinctive in that persistent visual field defects consistent with optic nerve dysfunction were present in the absence of an obvious cause. Taken in aggregate, these presentations suggest that focal reduction in the integrity of optic nerve fiber bundles may be present in some patients who have anomalous appearing optic nerve heads, but without features typically seen with optic nerve hypoplasia. These cases may represent a wider spectrum of optic nerve hypoplasia than is currently appreciated.
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