| Identifier |
septo_optic_dysplasia_lee_novel |
| Title |
Septo Optic Dysplasia |
| Creator |
Andrew G. Lee, MD |
| Affiliation |
(AGL) Chairman, Department of Ophthalmology, The Methodist Hospital, Houston, Texas; Professor of Ophthalmology, Weill Cornell Medicine, New York City, New York |
| Subject |
Brain Development; Septum Pellucidum; Growth Hormone Deficiency |
| Description |
Summary: • Septo-optic dysplasia: disorder of brain development characterized by underdevelopment of the optic nerve (hypoplasia) and absence of the septum pellucidum o Also known as DeMorsier syndrome • Clinical Presentation: o Patients can present on a spectrum from total blindness to normal visual acuity and visual field o Most problems are the result of the problems in the hypothalamic-pituitary axis: > Growth hormone deficiency: short stature, developmental delay > Delay in sexual development > Panhypopituitarism: condition where pituitary produces no hormones • Radiology: o Pituitary normally has a posterior bright spot on imaging > Bright spot may be ectopic, displaced, or absent on imaging o Evaluate structural anatomy of optic chiasm, stalk, and pituitary gland o Septum pellucidum will be absent on imaging, but this has no functional significance • Evaluation: o Every patient presenting with optic nerve hypoplasia should receive an MRI and endocrine evaluation looking for septo-optic dysplasia |
| Transcript |
So we are going to be talking about septo-optic dysplasia. And it's what it sounds like. It's dysplastic, it wasn't formed properly, and the optic nerve didn't form properly. So that's usually optic nerve hypoplasia - the nerve is smaller. And, the "septo" refers to the septum pellucidum, which is the dividing septum between the two lateral ventricles. And so in septo-optic dysplasia, you're missing the septum pellucidum. And it's a little bit misleading because you actually don't need your septum pellucidum. The thing we are worried about in septo-optic dysplasia is the hypothalamic-pituitary axis. And of course the chiasm and the optic nerve and the stalk and the pituitary are down here (referring to drawing). So any kind of midline abnormality is what we are looking for in a patient who has optic nerve hypoplasia. And it's quite a large spectrum. So there are patients who have unilateral or bilateral optic nerve hypoplasia with totally normal acuity and a normal visual field, they just have a small optic nerve. And then there are people who are on the way bad end of the spectrum who are completely blind. And everything in between. The reason it's important to know about optic nerve hypoplasia and its relationship with septo-optic dysplasia, also sometime referred to as the DeMorsier syndrome, is that the hypothalamic-pituitary axis is where the actual problems are for the patient systemically. And that means we can have growth hormone abnormalities, short stature, developmental delay, abnormalities in puberty and the sex hormones. So we are really worried about panhypopituitarism and hypothalamic-pituitary axis endocrine abnormalities in patients that have optic nerve hypoplasia. And we can see that radiographically sometimes because the stalk is either interrupted, and the pituitary which normally has a posterior pituitary bright spot, the bright spot might be ectopic and high up here, or displaced somehow, or absent. So we are going to be looking at the structural anatomy of the optic chiasm, the stalk, and the pituitary gland. We are going to pay attention to the presence or absence of the pituitary bright spot and its location, whether it's in the normal place in the pituitary or an ectopic location. The septum pellucidum is a radiographic marker, but really has no functional significance. But for an ophthalmologist what this means is that every patient that has optic nerve hypoplasia probably should have a MRI scan and an endocrine evaluation looking for this septo-optic dysplasia syndrome, the DeMorsier syndrome. |
| Date |
2021-04 |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Andrew G. Lee Collection: https://novel.utah.edu/Lee/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890 |
| Rights Management |
Copyright 2019. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s64v2g0x |
| Setname |
ehsl_novel_lee |
| ID |
1680626 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s64v2g0x |
