Retinal detachment associated with optic disc colobomas and morning glory syndrome

Abstract

We report the diagnosis and treatment of patients with retinal detachment and/or retinoschisis associated with optic nerve coloboma or morning glory syndrome. A retrospective review of patients with optic nerve coloboma or morning glory syndrome with associated retinal detachment or retinoschisis was conducted. For five patients (six eyes), we report the clinical findings, spectral domain optical coherence tomography (OCT) imaging, intraoperative findings, and treatment outcomes. OCT scans demonstrate a bilaminar structure of maculopathy, consisting of inner schisis-like changes and outer layer retinal detachment. In most cases, a retinal break was demonstrated within the optic disc defect with three-dimensional OCT imaging. Glial tissue was sometimes observed within the anomalous defect. Vitrectomy and resection of the tractional tissue in these cases produced good anatomical and visual outcomes. Retinal detachment spontaneously resolved in cases where traction was not present. Traction may contribute to the pathogenesis of retinal detachment associated with colobomatous optic disc anomalies, either directly or by creating a secondary retinal break. OCT imaging assists with understanding the contributing factors to retinal detachment in individual cases of colobomatous optic disc anomalies and can thereby assist with determining the most effective approach to management.

Figure 1

Patient 2, left eye. (a) photograph at presentation, showing an anomalous optic disc with overlying glial tissue and retinal detachment involving the macula (arrowheads). (b) Preoperative OCT of the macula and temporal optic disc demonstrating retinal detachment (asterisk) and retinoschisis (white arrow), and glial tissue within the cup of the optic disc (broken arrow). (c) 3D OCT reconstruction of the optic nerve head demonstrating tissue within the disc cup exerting traction (black arrow). (d) Fundus photograph postoperatively demonstrating that glial tissue has been trimmed and the retina is flat, with only minor pigmentary disturbance. (e) OCT of the macula 7 months postoperatively demonstrating resolution of the retinal detachment and retinoschisis. (f) OCT of the optic disc 7 months postoperatively demonstrating the anomalous optic disc.

Figure 2

Patient 3, left eye. (a) Fundus photograph of the optic disc on presentation, demonstrating an inferior coloboma (black arrow). A retinal break at the location of the arrow is difficult to visualise clinically. (b) OCT of the macula on presentation, demonstrating retinoschisis (asterisk) with subretinal fluid (white arrow) and retinal tissue extending into the optic disc cavity (broken arrow). (c) 3D OCT reconstruction of the optic disc demonstrating a retinal break in the cup of the disc (black arrow). (d) OCT of the macula 9 months postoperatively demonstrating marked reduction of the macular schisis and subretinal fluid.

Figure 3

(Top) Patient 4, left eye. (a) Fundus photograph showing colobomatous optic disc with morning glory configuration with vessels emerging radially from the edge of the disc, and a retinal break (broad white arrow). (b) OCT of macula at presentation showing both retinoschisis (asterisk) and retinal detachment (broken arrow). (c) OCT of macula 2 months after observation shows spontaneous resolution of the retinoschisis and subretinal fluid. (d) OCT of the macula 6 years after initial presentation demonstrating recurrence of retinoschisis (black arrow). (e) OCT of the macula 7 years after initial presentation demonstrating persistent retinoschisis. (f) 3D OCT reconstruction of the left optic disc showing a retinal break (broad white arrow). (Bottom) Patient 4, right eye. (g) Photograph of the right optic disc showing a morning glory optic disc with a retinal break (narrow white arrow). (h) 3D OCT reconstruction of the right optic disc demonstrating the retinal break (narrow white arrow).

Figure 4

Patient 5, right eye. (a) Fundus photograph of the macula 10 years postoperatively, demonstrating resolution of the retinal detachment. Inset, optic disc photograph, with a break in the thin overlying retinal tissue (black arrow). (b) OCT 3D reconstruction of the optic nerve head, showing a deeply excavated defect and an oval retinal break in the retina within the morning glory defect (black arrow). (c) OCT imaging demonstrating a completely attached retina after vitrectomy with separation of the posterior hyaloid, membrane removal, gas tamponade and laser photocoagulation.