A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid.
Amyloidosis is a term to describe extracellular deposition of insoluble beta-fibrillar proteins. Here we describe a patient who was confirmed to have amyloidosis after right heart biopsy and was found to have DNA change 114T > A (codon change D18E). Ophthalmic examination showed increasing vitreous sheet-like opacities in the left eye and she subsequently underwent vitrectomy. The vitrectomy specimen was confirmed to have amyloid involvement. To our knowledge this is the first report of vitreous involvement of a patient with the Asp18Glu mutation of the transthyretin (TTR) gene with DNA change 114T > A.
Solano
Joel M
JM
Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota 55905, USA.
Pulido
Jose S
JS
Salomao
Diva R
DR
D000686:Amyloidosis / Q000235:genetics* / Q000473:pathology; D005128:Eye Diseases / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D017354:Point Mutation / Q000235:genetics*; D011228:Prealbumin / Q000235:genetics*; D014821:Vitrectomy; D014822:Vitreous Body / Q000473:pathology*
D011228:Prealbumin