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A 16 year old with Blurred Vision
Digital Journal of Ophthalmology 2003
Volume 9, Number 4
December 29, 2003
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Madhavi Kurli | The New York Eye Cancer Center
Georges Adrien Shun-Shin | Wolverhampton and Midland Counties Eye Infirmary, United Kingdom
Diagnosis and Discussion
Congenital optic disc pit is a rare developmental defect and is a craterlike indentation on the surface of the optic disc. It is usually unilateral and is found in the temporal part of the optic nerve head. It varies in size and depth. The age at presentation varies from infancy to the seventh decade and there is no sex predeliction (1). Most pits are non-familial although autosomal dominant inheritance has been reported in a few (2). Various theories regarding formation of optic disc pits exist. Some think that anomalous development of the primordial optic nerve is responsible while others postulate incomplete closure of the embryonic fissure (3). Congenital optic disc pits are associated with iris, optic disc and chorioretinal colobomas (1,2). In the renal coloboma syndrome posterior colobomas are associated with optic disc pits and early renal failure making it essential to do simple nephrological tests to rule out renal involvement in such patients (4).

In 30-40% of the cases of congenital optic disc pits, there is a serous elevation of the macula resulting in reduced visual acuity (5,6). The pathogenesis of this is unclear. The subretinal fluid could be derived from the vitreous or the cerebrospinal fluid in the subarachnoid space around the optic disc. Other macular lesions that can be seen include macular edema, macular hole, macular cyst and pigmentary mottling.

Spontaneous reattachment of the retina has been reported but is rare(1). Macular detachment is associated with a very poor visual prognosis. Any treatment that allows the sensory retina to reattach is desirable in comparison to allowing the detachment to follow its natural course. The various treatment modalities include ocular patching and mannitol, bed rest, steroids, photocoagulation, diathermy, cryotherapy, drainage of subretinal fluid, scleral buckling procedures and intraocular gas injection. The above treatments have variable results and the best treatment has not been determined. The following treatment plan has been recommended (7): If there is no permanent macular damage, observation is advised for 3 months. If spontaneous reattachment occurs, the patient can proceed for laser treatment. If there is no reattachment bed rest and semi pressure eye patching for 2 days followed by laser and observation for 2 months is suggested. Further failure to reattach can be treated with intraocular gas and laser. If failure to reattach persists, vitrectomy with air/fluid exchange and additional laser is recommended.

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