First Author: H.Alkuraya SAUDI ARABIA
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To describe the ocular and systemic clinical findings with long term follow up of patients with Familial retinal arterial macroaneurysms syndrome (FRAM).
It is a retrospective clinical study including complete ophthalmologic and cardiologic evaluation of eight Saudi families, for a total of 22 patients with progressive retinal arterial macroaneurysms and supravalvular pulmonary stenosis.
There were 12 females and 10 males included in our study. Patients’ ages at first presentation ranged from 1 year to 34 years (average 10.27 years). The classical presentation of macroaneurysms and vascular beading involving the retinal artery was seen in all patients. Eight patients (36%) showed Coats' like areas of the fundus, and also eight patients (36%) showed areas of vascular sheathing. Five patients (23%) showed submacular gliotic mass, and four patients (18%) had extensive exudative retinal detachment. Follow up period of these patients ranged from 3 years to 14 years (average 9 years), during which recurrent bleeding and leaking episodes from these macroaneurysms occurred in 12 patients (54%); 10 patients of them received treatment by Argon laser photocoagulation of these leaking macroaneurysms; and 6 patients underwent pars plana vitrectomy for treatment of vitreous haemorrhage; with subsequent improvement of visual acuity. All patients who underwent echocardiography showed a unique phenotype of supravalvular pulmonary stenosis (16 patients 23%) 7 patients of them required cardiac surgery. Two patients died in the course of the study as a result of complications of pulmonary stenosis and cerebral haemorrhage.
FRAM is an autosomal recessive syndrome characterized by both ocular manifestations (progressive retinal arterial macroaneurysms and beading) and systemic manifestations (supravalvular pulmonary stenosis). Retinal arterial macroaneurysms and beading could be complicated by recurrent episodes of leakage and bleeding which lead to visual loss. Laser photocoagulation for the treatment of leaking macroaneurysms, and pars plana vitrectomy for treatment of vitreous haemorrhage lead to improvement of best corrected visual acuity. The systemic manifestations of this syndrome could be life threatening, and can lead to death in some cases