Familial retinal arterial macroaneurysms

To describe the salient clinical features and course of a new entity.

Retrospective study of the clinical examinations, photographic and angiographic documentation, and clinical course of seven children from three unrelated Saudi families with multiple retinal arterial macroaneurysms.

There were four females and three males: one set of two sisters (patients 1 and 2), a brother and a sister (patients 3 and 4), and a sister and two brothers (patients 5, 6 and 7). The age at first symptoms ranged from 3 months to 19 years. The first four cases were labeled for many years as "atypical bilateral Coats." Each patient demonstrated the presence of beading and macroaneurysms along the major retinal arterial trunks bilaterally. In five patients, recurrent bleeding and leakage from these macroaneurysms occurred, resulting in visual loss. The blood was mainly located under the internal limiting membrane. It reabsorbed spontaneously in all patients, with improved visual acuity. In three patients, argon laser photocoagulation of leaking macroaneurysms was followed by clinical improvement. Follow-up ranged from 18 months to 17 years (average = 7.8 years).

The authors report, to the best of their knowledge, a new condition that they propose to call "familial retinal arterial macroaneurysms."