AIM To describe optical coherence tomography (OCT) images of superior segmental optic hypoplasia (SSOH). METHODS 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 ...

BACKGROUND Heparan sulfate proteoglycans (HSPG) are important for embryonic development by means of the regulation of gradient formation and signaling of multiple growth factors and morphogens. Previous studies have shown that Bmp/Shh/Fgf signaling are required for the regionalization of the optic vesicle (OV) and for the closure of the optic fissure (OF), the disturbance of which underlie ocul...

Aim: To describe optical coherence tomography (OCT) images of superior segmental optic hypoplasia (SSOH). Methods: 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 ...

Optic nerve formation in mouse involves interactions between netrin-1 at the optic disk and the netrin-1 receptor DCC (deleted in colorectal cancer) expressed on retinal ganglion cell (RGC) axons. Deficiency in either protein causes RGC pathfinding defects at the disk leading to optic nerve hypoplasia (). Here we show that further along the visual pathway, RGC axons in netrin-1- or DCC-deficien...

The ratio of disc to macula/disc diameter is characteristically increased in eyes with optic nerve hypoplasia. We present the largest reported series of patients with a definitive diagnosis of optic nerve hypoplasia for whom this ratio has been determined. Ali measurements were made by an independent masked observer. Our results are in accordance with previous reports. A ratio of 2*94 provides ...

This is the first case report of a bilateral superior segmental optic hypoplasia (SSOH) accompanied by a glaucomatous optic neuropathy (GON). A 47-year-old man incidentally diagnosed as having bilateral SSOH, simultaneously disclosed glaucomatous optic disc appearances, including enlargements of the cup of the optic nerve heads and a thinning of the infero-temporal neuroretinal rim with laminar...