Congenital Optic Nerve Anomalies

Pilot study: Sensory integration processing disorders in children with optic nerve hypoplasia spectrum

“…ONH encompasses a wide clinical spectrum (Ahmad, Borchert, & Geffner, 2008), with a phenotype which is variable in its severity and symptom presentation (Signorini et al, 2012). The cardinal feature of ONH is the underdevelopment of the optic nerve, which can lead to visual function ranging from good visual acuity to no light perception (Brodsky, 2016). More commonly, ONH affects both eyes, and additional visual problems include nystagmus (more common bilaterally), and strabismus (Garcia-Filion et al, 2008; Ryabets-Lienhard, Stewart, Borchert, & Geffner, 2016).…”

Neurologic phenotypes associated with COL4A1/2 mutations

“…2 Cavitary optic disc anomalies comprise a range of nerve tissue defects, from optic pits to colobomas to MGDA, that generally feature peripheral compensatory bypass cilioretinal vessels in areas of central vasculature and nerve tissue defects. [3][4][5] Owing to an absence of barrier tissue, CSF may also seep from the subarachnoid into the subretinal space leading to retinal detachments. 3,5 Peripapillary staphylomas, on the other hand, feature no optic nerve cavitary loss, funnel-shaped or otherwise, but result from a thinned dural sclera surrounding the nerve, permitting a flat-based outpouching of the globe.…”

“…[3][4][5] Owing to an absence of barrier tissue, CSF may also seep from the subarachnoid into the subretinal space leading to retinal detachments. 3,5 Peripapillary staphylomas, on the other hand, feature no optic nerve cavitary loss, funnel-shaped or otherwise, but result from a thinned dural sclera surrounding the nerve, permitting a flat-based outpouching of the globe. [2][3][4][5] Rather than the retinal dysplasia with almost invariably poor vision seen in MGDA, there is stretching of the peripapillary retina with an enlarged blind spot, but vision can otherwise be preserved.…”

“…3,5 Peripapillary staphylomas, on the other hand, feature no optic nerve cavitary loss, funnel-shaped or otherwise, but result from a thinned dural sclera surrounding the nerve, permitting a flat-based outpouching of the globe. [2][3][4][5] Rather than the retinal dysplasia with almost invariably poor vision seen in MGDA, there is stretching of the peripapillary retina with an enlarged blind spot, but vision can otherwise be preserved. [2][3][4][5] It is important to make such distinctions as peripapillary staphylomas-unlike MGDA-are unassociated with retinal detachments or brain disorders, and neuroimaging is not indicated.…”

“…[2][3][4][5] Rather than the retinal dysplasia with almost invariably poor vision seen in MGDA, there is stretching of the peripapillary retina with an enlarged blind spot, but vision can otherwise be preserved. [2][3][4][5] It is important to make such distinctions as peripapillary staphylomas-unlike MGDA-are unassociated with retinal detachments or brain disorders, and neuroimaging is not indicated. 3,5 Editors' note: Teaching NeuroImages: Morning glory disc anomaly In the article "Teaching NeuroImages: Morning glory disc anomaly," Dr. Poillon et al presented a case of a 7-month-old girl with strabismus who was diagnosed with a morning glory disc anomaly (MGDA) in the right eye and found to have a glial tuft at the optic nerve insertion.…”