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A case study of 70 year old woman who developed isolated vitreoretinal amyloidosis in the absence of transthyretin mutations is studied. Vitreoretinal amyloidosis is believed to be associated with mutations in the genes encoding transthyretin and found exclusively as part of the familial amyloidotic polyneuropathy (FAP) syndrome. Dialated fundus examination showed multiple, white, refractile vitreous opacities dispersed in a syneretic vitreous in both eyes. Yellow deposits were also seen. A therapeutic and diagnostic left vitrectomy was then performed. Histopathologic analysis shows amyloidosis. Genomic DNA was then isolated from peripheral blood, and exons corresponding to the entire tsansthyretin protein were amplified by the polymerase chain reaction. Direct DNA sequence analysis of the amplified fragments revealed no mutations.

Presents a response by Fina Barouch, Shizuo Mukai and Merrill Benson to a letter to the editor in response to their article focused on differentiating amyloidosis and asteroid hyalosis, was previously published in the journal "Archives of Ophthalmology."