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A 38-year-old man was referred to us for examination due to blurry vision and his long-term use of sildenafil. His erectile dysfunction was originally thought to be a complication of heart failure secondary to congenital patent ductus arteriosus. There was no past ocular history of significance.
On examination, uncorrected visual acuity was 6/6 in both eyes. Anterior segment examination was unremarkable. IOP was 18 mmHg in the right eye and 20 mmHg in the left. Funduscopy showed a tilted disc in the right eye. Examination of the left eye showed a white excavation of the optic disc with thinning of the inferior rim. Macular appearance was normal with no fluid accumulation.
Optic disc coloboma is the result of incomplete closure of the proximal end of the embryonic fissure. This condition may be isolated or associated with systemic disorders. This patient’s other abnormalities suggest he most likely suffers from CHARGE syndrome, a rare genetic disorder involving coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, and genitourinary and ear abnormalities.