Scalloped pupils in familial amyloid polyneuropathy

✍ Scribed by Alan Rubinow; Alan S. Cohen

• Publisher: John Wiley and Sons
• Year: 1986
• Tongue: English
• Weight: 257 KB
• Volume: 29
• Category: Article
• ISSN: 0004-3591
• DOI: 10.1002/art.1780290323

✦ Synopsis

In 1975, Lessell et a1 ( I ) described "scalloping" of the pupils, a unique pupillary sign in 2 patients with aiutosomal dominant inherited familial amyloid pdyneuropathy (FAP). Although apparently pathognomonic, the sensitivity of this sign in a larger population of FAP patients is unknown. We therefore assessed the prevalence and diagnostic importance of this sign in 24 consecutive patients with biopsy-proven FAP.

Patients and methods. Between 1972 and 1983 we evaluated 24 patients with FAP. In each case, the diiagnosis of amyloidosis was confirmed by observing the characteristic apple-green birefringence on tissue sections stained with Congo red and viewed under polarized light (2). As part of a protocol study aimed at assessing the distribution and degree of amyloid depo:sition. a routine detailed ophthalmologic evaluation was obtained on all patients entering the Clinical Research Center. In patients with FAP, particular attention was paid to the presence of pupillary irregula.rity, response to light and convergence, response to rniydriatic and miotic eye drops, and to vitreous or corneal opacities.