Ocular microangiopathy in familial amyloidotic polyneuropathy, type I

To obtain precise information on ophthalmological manifestations in patients with familial amyloidotic polyneuropathy (FAP), we performed ophthalmological and histopathological studies on 18 FAP patients and 6 asymptomatic individuals with a mutant transthyretin (TTR) gene. The incidence of vascular abnormalities of the conjunctiva and retina was surprisingly high in FAP patients. Abnormal conjunctival vessels were found mainly in the limbal area of FAP patients, but not in asymptomatic individuals with a mutant TTR gene. Conjunctival biopsy of 5 FAP patients and autopsy of another 2 FAP patients revealed that a significant amyloid deposit could be recognized in the superficial substantia propria of the conjunctiva and wall and perivascular area of the conjunctival vessels in all cases, a finding that is of diagnostic value. As for the retinal vessels, an abnormal arteriovenous ratio (A/V ratio), tortuous retinal vessels, cotton wool exudates and retinal hemorrhages were found in FAP patients. However, histopathological analysis of the retina in two autopsied cases revealed only a trace amount of amyloid deposit around the retinal vessels. Ophthalmological examination of three patients with pandysautonomia revealed that the appearance of both the conjunctival and retinal vessels of these patients was similar to that in FAP patients. These results indicate that in FAP patients ocular microangiopathy may be related to autonomic dysfunction as well as amyloid deposit.