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TitelCorneal confocal microscopy and familial amyloidotic polyneuropathy
Abstract Nr.3027
DoelTo describe a case of familial amyloid polyneuropathy (FAP) with deposits found in all corneal layers at corneal confocal microscopy.
MethodesA complete ophthalmological examination as well as a glaucoma assessment and
corneal confocal microscopy (Heidelbergh Retina Tomograph II with Rostock cornea module) were performed. Color photographs of the anterior segment were taken at the slit lamp.
ResultatenA 47-year-old patient with FAP has secondary glaucoma of the left eye, refractory to maximum medical treatment and requiring trabeculectomy. The slit lamp shows a clear cornea with fine precipitates, a whitish nodule of the conjunctiva, scalloped pupillary margin, white deposits on the anterior crystalloid. The corneal confocal microscopy reveals hyper-reflective deposits in all corneal layers.
ConclusieFAP is an autosomal dominant neurodegenerative disease linked in most cases to transthyretin (TTR) mutation, the most common of which is the substitution of valine by methionine at position 30 of the TTR gene (Val30Met). The mutated TTR then aggregates in the form of amyloid deposits at the peripheral nerves and various organs, including the eye. Hyper-reflective deposits found in the 3 corneal layers of this patient are probably amyloid. To our knowledge, this had never been described before. Immunohistochemical analysis is the sole method to confirm the amyloid nature of these deposits.
BelangenverstrengelingNee
Auteur 1
NaamBOUAICH
InitialenK
InstituutHôpital universitaire Erasme
StadBruxelles
Auteur 2
NaamDufrane
InitialenR
InstituutHôpital universitaire Erasme
StadBruxelles
Auteur 3
NaamYoussfi
InitialenA
InstituutHôpital universitaire Erasme
StadBruxelles
Auteur 4
NaamSlim
InitialenE
InstituutUniversité Saint Joseph Faculté de médecine
StadBeyrouth
Auteur 5
NaamEhongo
InitialenA
InstituutHôpital universitaire Erasme
StadBruxelles
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