Iberoamerican Journal of Medicine
https://iberoamjmed.com/article/doi/10.5281/zenodo.4655879
Iberoamerican Journal of Medicine
Case Report

Retinitis pigmentosa associated with systemic light chain amyloidosis (AL amyloidosis)

Salem Bouomrani, Fahd Saadaoui, Nour Elhouda Ayadi

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Abstract

Retinitis pigmentosa (RP) or hereditary retinal dystrophy is a rare disease that can be isolated (non-syndromic RP) or associated with other systemic signs (syndromic RP). Kidney damage is exceptionally reported in patients with RP, particularly in syndromic forms. Association with renal amyloidosis remains unusual with only one reported case of RP and hereditary gelsolin amyloidosis due to a G654A gelsolin mutation defining the new syndrome of Ardalan-Shoja-Kiuru. Apart from this publication, no case associating RP and AL amyloidosis has been found.
We report an original case of renal damage revealing kappa-type systemic light chains amyloidosis (AL amyloidosis) in 35-year-old man with sporadic RP. Our observation is, to our knowledge, the first to report this association.

Keywords

Retinitis pigmentosa; Light chain amyloidosis; AL amyloidosis; Primary amyloidosis

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Submitted date:
03/09/2021

Reviewed date:
03/30/2021

Accepted date:
04/01/2021

Publication date:
04/01/2021

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