Chorioretinal coloboma is a congenital defect of the eye caused by improper closure of the embryonic fissure. Optic nerve head drusen (ONHD) are white calcareous deposits that are generally asymptomatic. We report a very rare association of both in a healthy patient with no any systemic syndrome. A 16-year-old man was referred to our clinic from suffering blurred vision. Best corrected visual acuity of the right eye was 6/10 and 10/10 in the left one. External ocular and slit lamp examination were normal. Dilated ophthalmoscopy showed marked swelling in both optic nerves and chorioretinal coloboma in the right eye inferiorly. Ultrasonography showed an echodense structure with acoustic shadowing in both eyes consistent with buried ONHD. Visual field testing showed normal field in the left eye and moderate superior field depression in the right eye corresponding to inferior coloboma in funduscopy. Results of general medical and neurologic, cardiologic, and other examinations were normal. To the best our knowledge combination of bilateral ONHD and unilateral chorioretinal coloboma in a healthy patient with no any systemic syndrome has not been published in the literature. We reported this very rare association and recommended examine eyes and other body organs. In such cases that coloboma is associated with ONHD, we should keep in mind Noonan syndrome. The diagnosis of Noonan syndrome is clinical and confirm by the consultant pediatricians and clinical geneticists.
Pagon RA. Ocular coloboma. Surv Ophthalmol 1981;25:223-36.
Megur B, Megur D, Megur U, Reddy S. Anterior ischemic optic neuropathy in association with optic nervehead drusen. Indian J Ophthalmol 2014;62:829-31.
Tso MO. Pathology and pathogenesis of drusen of the optic nervehead. Ophthalmology 1981;88:1066-80.
Bochow TW, Olk RJ, Knupp JA, Smith ME. Spontaneous reattachment of a total retinal detachment in an infant with microphthalmos and an optic nerve coloboma. Am J Ophthalmol 1991;112:347-8.
Wang K, Hilton GF. Retinal detachment associated with coloboma of the choroid. Trans Am Ophthalmol Soc 1985;83:49-62.
Patnaik B, Kalsi R. Retinal detachment with coloboma of the choroid. Indian J Ophthalmol 1981;29:345-9.
Lee A, Sakhalkar MV. Ocular manifestations of Noonan syndrome in twin siblings: A case report of keratoconus with acute corneal hydrops. Indian J Ophthalmol 2014;62:1171-3.