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

Salem Bouomrani,Fahd Saadaoui,Nour Elhouda Ayadi

doi:10.53986/ibjm.2021.0026

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.

Highlights

INTRODUCTIONDescribed for the first time as a clinico-pathological entity in 1853, and named "retinitis pigmentosa" (RP) in 1857 [1], the hereditary retinal dystrophy is a heterogeneous group of disorders having in common the genetic origin and the progressive loss of eye photoreceptor and epithelial pigment function [2, 3]
We report an original case of renal damage revealing kappa-type systemic light chains amyloidosis (AL amyloidosis) in 35-year-old man with sporadic Retinitis pigmentosa (RP)
Described for the first time as a clinico-pathological entity in 1853, and named "retinitis pigmentosa" (RP) in 1857 [1], the hereditary retinal dystrophy is a heterogeneous group of disorders having in common the genetic origin and the progressive loss of eye photoreceptor and epithelial pigment function [2, 3]

Summary

INTRODUCTION

Described for the first time as a clinico-pathological entity in 1853, and named "retinitis pigmentosa" (RP) in 1857 [1], the hereditary retinal dystrophy is a heterogeneous group of disorders having in common the genetic origin and the progressive loss of eye photoreceptor and epithelial pigment function [2, 3]. It is a rare disease with an overall prevalence in the general population estimated at 1/3000 to 1/5000 [1,2,3]. We report an original case of renal damage revealing systemic light chain amyloidosis in 35-year-old man with RP

CASE REPORT

DISCUSSION

Findings

CONCLUSIONS