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      Optical coherence tomography of superior segmental optic hypoplasia.

      The British Journal of Ophthalmology

      methods, Tomography, pathology, Pigment Epithelium of Eye, abnormalities, Optic Disk, Middle Aged, Male, Humans, Female, genetics, Diabetes Mellitus, Choroid, Child, Case-Control Studies, Adult, Adolescent

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          To describe optical coherence tomography (OCT) images of superior segmental optic hypoplasia (SSOH). Five patients (two men and three women, ages 10-45 years) presented with ophthalmoscopic features and visual field defects of SSOH. All affected eyes had good visual acuity and inferior altitudinal or inferonasal visual field loss. The mothers of three patients had type 1 diabetes mellitus. OCT (Humphrey Instrument, CA, USA) was used to evaluate tomographically the optic disc and peripapillary retina of both eyes of each patient. Control data on retinal nerve fibre layer (RNFL) thickness were obtained from 13 normal eyes, one eye each from 13 normal subjects. Seven of 10 eyes in patients had SSOH. Scans in the vertical meridian through the affected optic discs showed a superior defect of the optic disc associated with decreased RNFL thickness and, in some cases, an abnormal extension of a complex of retinal pigment epithelium and choroid over the edge of the lamina cribrosa. Circular scans around the seven optic discs revealed various decreases of peripapillary RNFL thickness in the superior quadrants. Vertical scans through the fovea also showed superior thinning of RNFL. Quantitative assessment of the peripapillary RNFL thickness revealed significantly decreased values in the superior quadrants compared to normal eyes. OCT provides a new tool for quantitative evaluation of optic nerve hypoplasia as exemplified in this study of SSOH. It can reveal minimal degrees of segmental hypoplasia previously undetected.

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