Familial primary pulmonary hypertension and associated ocular findings

Background: Familial primary pulmonary hypertension (PPH) is a rare, fatal, autosomal dominant disease that results in right heart failure from idiopa thic obliteration of the pulmonary arteries. Patients develop stagnation of venous blood flow and elevated venous pressure. Methods: The authors retrospectively reviewed the clinical records of three patients diagnosed with PPH that was confirmed on the basis of physical ex amination, chest X-ray, electrocardiogram, and echocardiogram. Cardiac cath eterization excluded cardiac shunt and other secondary causes of pulmonary hypertension. Results: Two patients presented with a clinical picture resembling venous s tasis retinopathy, and one with bilateral choroidal detachments. Two patien ts had delayed choroidal filling on fluorescein angiography, which was conf irmed in one patient with indocyanine green videoangiography. Conclusions: Elevated venous pressure found in PPH is responsible for the d elayed choroidal perfusion and the reduced venous blood outflow. This expla ins the clinical findings of venous stasis retinopathy and choroidal detach ments seen in these patients.