Iberoamerican Journal of Medicine
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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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.


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


1. O'Neal TB, Luther EE. Retinitis Pigmentosa. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021.
2. Pagon RA. Retinitis pigmentosa. Surv Ophthalmol. 1988;33(3):137-77. doi: 10.1016/0039-6257(88)90085-9.
3. Bruninx R, Lepièce G. L’image du mois. La rétinite pigmentaire [Retinitis pigmentosa]. Rev Med Liege. 2020;75(2):73-4.
4. Tsang SH, Sharma T. Retinitis Pigmentosa (Non-syndromic). Adv Exp Med Biol. 2018;1085:125-130. doi: 10.1007/978-3-319-95046-4_25.
5. Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association, Yang Z, Yang J, Zhang Q, Li Y. [Clinical practice guidelines for retinitis pigmentosa]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020;37(3):295-9. doi: 10.3760/cma.j.issn.1003-9406.2020.03.012.
6. Daiger SP, Sullivan LS, Bowne SJ. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84(2):132-41. doi: 10.1111/cge.12203.
7. Oyama T, Usui T, Hasebe H, Miki A, Matsumoto S, Suda K, et al. [Two cases of Senior-Loken syndrome]. Nippon Ganka Gakkai Zasshi. 2004;108(1):29-37.
8. Wakim El-Khoury J, Venetz JP, Rutz T, Sciarra A, Unger S, Sempoux C, et al. Syndrome d’Alagille [Alagille Syndrome]. Rev Med Suisse. 2019;15(660):1506-10.
9. Shokouhi G, Khosroshahi HT. Ardalan-Shoja-Kiuru syndrome--hereditary gelsolin amyloidosis plus retinitis pigmentosa. Nephrol Dial Transplant. 2008;23(3):1071; author reply 1071-2. doi: 10.1093/ndt/gfm577.
10. Forsythe E, Beales PL. Bardet-Biedl syndrome. Eur J Hum Genet. 2013;21(1):8-13. doi: 10.1038/ejhg.2012.115.
11. Marshall JD, Beck S, Maffei P, Naggert JK. Alström syndrome. Eur J Hum Genet. 2007;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933.
12. Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, et al. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Am J Med Genet A. 2013;161A(11):2762-76. doi: 10.1002/ajmg.a.36265.
13. Perera NJ, Lewis B, Tran H, Fietz M, Sullivan DR. Refsum's Disease-Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder. J Obes. 2011;2011:482021. doi: 10.1155/2011/482021.
14. Wechalekar AD, Gillmore JD, Hawkins PN. Systemic amyloidosis. Lancet. 2016;387(10038):2641-54. doi: 10.1016/S0140-6736(15)01274-X.
15. Ryšavá R. AL amyloidosis: advances in diagnostics and treatment. Nephrol Dial Transplant. 2019;34(9):1460-6. doi: 10.1093/ndt/gfy291.
16. Ardalan MR, Shoja MM, Kiuru-Enari S. Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East. Nephrol Dial Transplant. 2007;22(1):272-5. doi: 10.1093/ndt/gfl548.

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