Renal coloboma syndrome (RCS) (papillorenal syndrome) is an autosomal dominant entity characterized by hypodysplastic kidneys and optic nerve abnormalities ranging from optic pit to total optic disc coloboma (1, 2). The double-chambered right ventricle (DCRV) is a rare congenital heart abnormality caused by anomalous location of hypertrophic muscle bands creating an obstacle for the right ventricular ejection (3). In this paper we discuss clinical properties of a patient with papillorenal syndrome associated with congenital heart disease (CHD) including DCRV. To the best of our knowledge, this association has not been reported.
A 21-year-old man without any ocular history presented to our clinic with loss of vision in his right eye for two months. His initial ophthalmologic examination revealed optic disc pit in both eyes and serous macular detachment in the right eye (Fig. 1). Slit lamp examination was unremarkable. His best-corrected visual acuity (BCVA) was 20/100 in the right and 20/20 in the left eye.
The patient had a history of surgery for atrial septal defect (ASD), pulmonary valve stenosis (PVS) and deformity of conus arteriosus when he was 3-year-old. Cardiac magnetic resonance imaging and echocardiography demonstrated DCRV, aneurysmal formation of the membranous septum, pulmonary and tricuspid regurgitation (Fig. 2). No treatment was given due to compensated cardiac disease.
He had also been suffering from vomiting, fatigue and spasms for two months. Blood work-up showed elevated serum creatinine (8.72 mg/dL), urea (200 mg/dL), phosphorus (5.84 mg/dL), parathyroid hormone (1196 pg/mL) and decreased levels of [Fe.sup.+] (26 [micro]g/dL), red blood cell (3.83x[10.sup.6]/pL) and hemoglobin (11.6 g/dL). Urinalysis revealed proteinuria. Abdominal ultrasonography and computed tomography showed bilateral renal hypoplasia (Fig. 3) and a diagnosis...