Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His.
OBJECTIVE
To describe 3 cases of oculoleptomeningeal amyloidosis (OLMA).


METHODS
Descriptive case series.


METHODS
Three siblings who presented with floaters and decreased visual acuity.


METHODS
A complete ophthalmologic examination, magnetic resonance imaging, cytological, and genetic studies were carried out in clinical practice. Each sibling was treated by means of pars plana vitrectomy. Vitreous samples stained with Congo Red revealed apple-green birefringence when viewed under polarized light.


RESULTS
In each case, visual acuity improved greatly after pars plana vitrectomy. A Tyr69His mutation in the transthyretin (TTR) gene was genetically confirmed in 2 of the siblings.


CONCLUSIONS
This report adds to the literature regarding OLMA and its association with a Tyr69His mutation in the TTR gene. Despite no proven therapy at this time, symptomatic treatment with pars plana vitrectomy appears to be beneficial.
Schweitzer
Kelly
K
Queen's University, Kingston, Ont., Canada.
Ehmann
David
D
Garcia
Raul
R
Alport
Edward
E
D000328:Adult; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics* / Q000378:metabolism; D035781:Siblings; D014821:Vitrectomy
D011228:Prealbumin; D004247:DNA