Elevated Optic Nerve in 16-month old

It was the day before Thanksgiving and I had 10 EUAs scheduled. The anesthesiologist were gracious (suffered silently) as we fell far behind schedule.

One of the highlights of today's EUA session was a 16 months- old boy with poor vision in the right eye. The child had an MRI and MRA before my exam and they were reported as no tumor. I have not yet seen them. I did retcam photos and angiography.

Figure 1A: Shows the zone of the optic nerve. The optic nerve is obscured by elevated retina with fibrous tissue central and pleats of retina extending temporally. Hyperpigmentation along the base
Figure 1B: Elevated retina is seen overlying the disc area and fibrous tissue is seen extending from the central zone temporally in a zone of retina folds. Although there are many retinal vessels centrally they are of normal to decreased caliber and straightened.
Figure 1C: Shows the temporal extent of the fibrous tissue that is at the crest of a retina fold.

Figure 2A: Shows the Fluorescein angiogram early frame with severely altered vascular pattern. Nonetheless the vessel patten still respects the median vascular raphe.

Figure 2 B: The angiogram shows the transit phase. in the temporal periphery there is an area of non-perfusion. There is also a looping pattern typically seen near the ora serrata
Figure 2 C: Shows the late frame with subretinal pooling .

The differential diagnosis at presentation was. I guess that was the reason for the MRI and MRA. The parent said they would send me a copy and I will add it to this post when I get it.

1. Morning Glory Syndrome with serous retinal detachment


2. Optic Nerve Glioma

In fact the picture is classic for a combined hamartoma of the retina and RPE (CHRRPE). This is the presentation of the peripapillary form and looks very different from the posterior or peripheral forms. In general there is a large range of appearances. Hamartomas are disorganized tissues from the site. This hamartoma includes glial, vascular, retina and RPE. The positive features are:

1. Retina Detachment
2. Pigment at base (RPE tissue)
   
3. Fibrous tissue associated with retina traction with dendritiform shape (glial tissue)
   
4. Optic nerve head obscured by retina
5. Dragging of the vascularized retina centrally (small vessels)
   
6. Loss of the macula

1. 
   Figure3: Shows another CHRRPE with somewhat more obvious features. The dense fibrous tissue, the retinal elevation and dragging, the retinal pleats and the straightening of the vessels. The FA shows that the retinal detachment occurs from the fibrous traction on the macula.

Figure 4A Shows a morning glory disc shows a central fibrous (glial tissue obscuring the normally yellow-pink rim of neural tissue. The vessels emanate from below the glial tissue and extend radially without the usual posterior branching. The vessels are not symmetric around the center; the arcades vessels are seen temporally. An annulus of white subretinal tissue may represent sclera and this is surrounded by an annulus of choroid without RPE.

Figure 4B: Shows greater detail and the fovea and a retina pleat can be seen temporally. Morning Glory is a coloboma in which there is an ectasia with prolapse of tissue into the ectasia.

The overlap features

1. The radial vessels like morning glory syndrome
2. The glial tisssue like both morning glory
3. The elevated tissue like glioma
   
4. Highly Vascular over disc area liked optic nerve glioma