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

      case-report

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          Abstract

          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.

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          Most cited references15

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          Bardet–Biedl syndrome

          Elizabeth Forsythe, Philip L Beales (2013)
          Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterised by retinal dystrophy, obesity, post-axial polydactyly, renal dysfunction, learning difficulties and hypogonadism. Many associated minor features can be helpful in making a diagnosis and are important in the clinical management of BBS. The diagnosis is based on clinical findings and can be confirmed by sequencing of known disease-causing genes in 80% of patients. BBS genes encode proteins that localise to the cilia and basal body and are involved in cilia biogenesis and function. Mutations lead to defective cilia accounting in part for the pleiotropic effects observed in BBS. We provide an overview of BBS including the clinical findings, current understanding of cilia biology, and a practical approach to diagnosis, genetic counselling and up-to-date management.
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            Genes and mutations causing retinitis pigmentosa.

            S. DAIGER, L Sullivan, S J Bowne (2013)
            Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, and highly varied clinical consequences. Progress in finding treatments is dependent on determining the genes and mutations causing these diseases, which includes both gene discovery and mutation screening in affected individuals and families. Despite the complexity, substantial progress has been made in finding RP genes and mutations. Depending on the type of RP, and the technology used, it is possible to detect mutations in 30-80% of cases. One of the most powerful approaches to genetic testing is high-throughput 'deep sequencing', that is, next-generation sequencing (NGS). NGS has identified several novel RP genes but a substantial fraction of previously unsolved cases have mutations in genes that are known causes of retinal disease but not necessarily RP. Apparent discrepancy between the molecular defect and clinical findings may warrant reevaluation of patients and families. In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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              Retinitis pigmentosa

              Roberta Pagon (1988)
              Article 0 comments Cited 59 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (publisher-id): ijm
                Title: Iberoamerican Journal of Medicine
                Abbreviated Title: Iberoam J Med
                Publisher: Hospital San Pedro (Logroño, La Rioja, Spain )
                ISSN (Print): 2695-5075
                ISSN (Electronic): 2695-5075
                Publication date (Print and electronic): 2021
                Volume: 3
                Issue: 2
                Pages: 173-175
                Affiliations
                [2] Sfax orgnameUniversity of Sfax orgdiv1Sfax Faculty of Medicine orgdiv2Department of Internal Medicine Túnez
                [1] Gabes orgnameMilitary Hospital of Gabes orgdiv1Department of Internal Medicine Túnez
                Article
                Publisher ID: S2695-50752021000200011 Publisher ID: S2695-5075(21)00300200011
                DOI: 10.5281/zenodo.4655879
                SO-VID: 13256358-b77e-4a01-9ac4-67e440db67b6
                License:

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                Date accepted : 01 April 2021
                Date received : 09 March 2021
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 16, Pages: 3
                Product

                SciELO Spain

                Categories
                Subject: Case Report

                Keywords: AL amyloidosis,Retinitis pigmentosa,Primary amyloidosis,Light chain amyloidosis
                Data availability:
                Keywords: AL amyloidosis, Retinitis pigmentosa, Primary amyloidosis, Light chain amyloidosis

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