Name

Microscopie confocale cornéenne et polyneuropathie amyloïde familiale

To describe a case of familial amyloid polyneuropathy with deposits found in all corneal layers at corneal confocal microscopy.

A 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.

A 47-year-old patient with familial amyloid polyneuropathy 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.

Familial amyloid polyneuropathy is an autosomal dominant neurodegenerative disease linked in most cases to transthyretin mutation, the most common of which is the substitution of valine by methionine at position 30 of the transthyretin gene. The mutated transthyretin then aggregates in the form of amyloid deposits at the peripheral nerves and various organs, including the eye.

Hyper-reflective deposits found in the three 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.