Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies

PURPOSE: To propose a unifying theory regarding the pathogenesis of maculopathy associated with cavitary optic disc anomalies and to describe a rational approach to achieving a permanent cure in affected eyes. DESIGN: Interpretive essay. METHODS: Review and synthesis of selected literature, with interpretation and perspective in relating pathoanatomic features to pathogenesis and treatment. RESULTS: Congenital cavitary anomalies of the optic disc, including typical coloboma, optic pit (and other atypical colobomas), morning glory anomaly, and extrapapillary cavitation, are associated with an enigmatic maculopathy characterized by schisis-like thickening and serous detachment. The unifying anatomic theme of these anomalies is the presence of a scleral (or lamina cribrosa) defect permitting anomalous communications between intraocular and extraocular spaces. These communicationsenablethecriticalpathogenicmechanismresponsible for the maculopathy, namely, dynamic fluctuations in the gradient between intraocular and intracranial pressures that direct the movement of fluid (vitreous humor or cerebrospinal fluid) into and under the retina. Vitreous traction does not seem to play a significant pathogenic role. Permanent cure of the maculopathy requires either elimination of the translaminar pressure gradient or closure of the pathway for fluid flow into the retina. We advocate carefully titrated juxtapapillary laser photocoagulation followed by vitrectomy with gas tamponade for creation of a permanent intraretinal and subretinal fluid barrier. CONCLUSIONS: The peculiar features of cavitary optic disc maculopathy can be explained only by considering the pressure gradients that develop along anomalous communications between intraocular and extraocular spaces. A permanent cure for this condition can be achieved by closing the pathway for fluid migration from the cavitary lesion into and under the retina. (Am J Ophthalmol 2014;158:423‐435. 2014 by Elsevier Inc. All rights reserved.) A PECULIAR AND ENIGMATIC MACULOPATHY commonly occurs in association with several congenital cavitary anomalies of the optic disc, including typical optic nerve coloboma, optic pit (and other atypical colobomas), morning glory anomaly, and extrapapillary cavitation. Although usually described as distinct clinical entities, these anomalies likely fall within a spectrum with variable pathoanatomic features but similar embryogenesis and pathologic sequelae. The pathogenesis of serous maculopathy complicating cavitary disc anomalies is as intriguing as it is controversial, and for many decades has defied attempts to understand it clearly. This lack of clarity has spawned a diversity of treatment approaches with variable efficacy. Attempting to understand the fluid origin and pathophysiology of this condition informs us about the structure of the optic disc and juxtapapillary retina and the dynamic forces that influence these tissues. In this Perspective, we discuss the varyingclinicalpresentationsofthecavitarydiscanomaliesand associated maculopathy, the probable pathophysiologic mechanisms involved, and key considerations regarding management.