Ardalan-Shoja-Kiuru syndrome--hereditary gelsolin amyloidosis plus retinitis pigmentosa

Abstract

Sir, Recently, in a commendable collaboration with Dr Kiuru-Enari of Helsinki University and Dr Kashgarian of Yale University, Drs Ardalan and Shoja from Tabriz reported a syndrome of corneal lattice dystrophy, progressive neuropathy, cutis laxa and retinitis pigmentosa [1]. Diagnosis of an extremely rare disease or a new syndrome demands a multidisciplinary approach and sometimes requires much patience from the patients and physicians as well as international collaboration. The work of Dr Ardalan and his colleagues in diagnosing the first Iranian family with G654A gelsolin mutation is one of such examples, and is highly respected in the local research community. In an interview with this Iranian family, they declared the intolerable pain and social isolation caused by their disease, which was left undiagnosed for at least two generations, despite extensive medical consultations. Though the triad of corneal lattice dystrophy, neuropathy and cutis laxa due to G654A gelsolin mutation had been previously reported as hereditary gelsolin amyloidosis, Ardalan and colleagues claimed that this is the first report of retinitis pigmentosa in association with this systemic disease. They further wrote that being of an autosomaldominant pattern, the presence of retinitis pigmentosa might not be an accidental finding. In a personal communication with Drs Ardalan and Shoja, they referred to a report by Kenna et al. [2], of an Irish family with autosomal dominant retinitis pigmentosa and sensorineural hearing loss, in which the mutant gene was located at chromosome 9q34-ter. Surprisingly, the mutant gene in gelsolin amyloidosis is located in chromosome 9q32-34, just preceding the involved locus of this Irish family. Hence, it is quite possible that a complex mutation exists in the Iranian family involving both genes. If this is really the case, then we are facing a new syndrome composed of hereditary gelsolin amyloidosis and retinitis pigmentosa. This is worth labelling Ardalan–Shoja– Kiuru syndrome. We hope that these young researchers, with their endless diligence and a worthwhile international collaboration, could explore the molecular and genetic basis of this new syndrome.