Skip to main content
SpringerLink
Log in

Retinal and Choroidal Manifestations of Renal Diseases

  • Chapter
  • First Online:
Retinal and Choroidal Manifestations of Selected Systemic Diseases

  • 1255 Accesses

Abstract

From widespread afflictions such as diabetes and hypertension to rare conditions like the ciliopathies, the kidney and retina are frequently affected by the same diseases. Factors ranging from genetic abnormalities and metabolic defects to vascular stress and neoplasia can have deleterious influence on these organs structure and function. This chapter will discuss the pathological processes that link the kidney and the retina, focusing particularly on the identification of these conditions in a clinically relevant manner.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 159.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 109.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Aiello LP, Bursell SE, Clermont A, et al. Vascular endothelial growth factor-induced retinal permeability is mediated by protein kinase C in vivo and suppressed by an orally effective beta-isoform-selective inhibitor. Diabetes. 1997;46:1473–80.

    PubMed  CAS  Google Scholar 

  2. Matthews DR, Stratton IM, Aldington SJ, UK Prospective Diabetes Study Group, et al. Risk of ­progression of retinopathy and vision loss related to tight blood pressure control in type 2 diabetes ­mellitus: UKPDS. Arch Ophthalmol. 2004;122: 1631–40.

    PubMed  Google Scholar 

  3. Parving H, Hommel E, Mathiesen E, et al. Prevalence of microalbuminuria, arterial hypertension, retinopathy and neuropathy in patients with insulin dependent diabetes. Br Med J. 1988;296:156–60.

    CAS  Google Scholar 

  4. Nagai N, Izumi-Nagai K, Oike Y, et al. Suppression of diabetes-induced retinal inflammation by blocking the angiotensin II type 1 receptor or its downstream nuclear factor-kappaB pathway. Invest Ophthalmol Vis Sci. 2007;48:4342–50.

    PubMed  Google Scholar 

  5. Mauer M, Zinman B, Gardiner R, Suissa S, Sinaiko A, et al. Renal and retinal effects of enalapril and losartan in type 1 diabetes. N Engl J Med. 2009;361(1): 40–51.

    PubMed  CAS  Google Scholar 

  6. Wagner J, Jan Danser AH, Derkx FH, et al. Demonstration of renin mRNA, angiotensinogen mRNA, and angiotensin converting enzyme mRNA expression in the human eye: evidence for an intraocular renin-angiotensin system. Br J Ophthalmol. 1996;80:159–63.

    PubMed  CAS  Google Scholar 

  7. Ishizaki E, Takai S, Ueki M, et al. Correlation between angiotensin-converting enzyme, vascular endothelial growth factor, and matrix metalloproteinase-9 in the vitreous of eyes with diabetic retinopathy. Am J Ophthalmol. 2006;141:129–34.

    PubMed  CAS  Google Scholar 

  8. Aiello LP, Avery RL, Arrigg PG, et al. Vascular endothelial growth factor in ocular fluid of patients with diabetic retinopathy and other retinal disorders. N Engl J Med. 1994;331:1480–7.

    PubMed  CAS  Google Scholar 

  9. Berl T, Hunsicker LG, Lewis JB, Pfeffer MA, Porush JG, Rouleau JL, Drury PL, Esmatjes E, Hricik D, Parikh CR, Raz I, Vanhille P, Wiegmann TB, Wolfe BM, Locatelli F, Goldhaber SZ, Lewis EJ, Irbesartan Diabetic Nephropathy Trial. Collaborative Study Group. Cardiovascular outcomes in the Irbesartan Diabetic Nephropathy Trial of patients with type 2 diabetes and overt nephropathy. Ann Intern Med. 2003;138(7):542–9.

    PubMed  CAS  Google Scholar 

  10. Sjolie AK, Klein R, Porta M, et al. Effect of candesartan on progression and regression of retinopathy in type 2 diabetes (DIRECT-Protect 2): a randomised placebo-controlled trial. Lancet. 2008;372:1385–93.

    PubMed  Google Scholar 

  11. Pedersen O, Gaede P. Intensified multifactorial intervention and cardiovascular outcome in type 2 diabetes: the Steno-2 study. Metabolism. 2003;52 (8 Suppl 1):19–23.

    PubMed  CAS  Google Scholar 

  12. Gudmundsdottir H, Taarnhøj NC, Strand AH, Kjeldsen SE, Høieggen A, Os I. Blood pressure development and hypertensive retinopathy: 20-year follow-up of middle-aged normotensive and hypertensive men. J Hum Hypertens. 2010;24(8): 505–13.

    PubMed  CAS  Google Scholar 

  13. Taylor D, Ramsay J, Day S, Dillon M. Infarction of the optic nerve head in children with accelerated hypertension. Br J Ophthalmol. 1981;65(3):153–60.

    PubMed  CAS  Google Scholar 

  14. Remuzzi G. HUS and TTP: variable expression of a single entity. Kidney Int. 1987;32:292–308.

    PubMed  CAS  Google Scholar 

  15. Amorosi EL, Ultman JE. Thrombotic thrombocytopenia: report of 16 cases and review of the literature. Medicine. 1966;45:139–59.

    Google Scholar 

  16. Percival SPB. The eye and Moschcowitz’s disease (thrombotic thrombocytopenic purpura). A review of 182 cases. Trans Ophthalmol Soc U K. 1970;30: 375–82.

    Google Scholar 

  17. Ridolfi RL, Bell WR. Thrombotic thrombocytopenic purpura: report of 25 cases and review of the literature. Medicine. 1981;60:413–28.

    PubMed  CAS  Google Scholar 

  18. Lewellen Jr DR, Singerman LJ. Thrombotic thrombocytopenic purpura with optic disk neovascularization, vitreous hemorrhage, retinal detachment and optic atrophy. Am J Ophthalmol. 1980;89:840–4.

    PubMed  Google Scholar 

  19. Percival SPB. Ocular findings in thrombotic thrombocytopenic purpura (Moschkowitz’s disease). Br J Ophthalmol. 1970;54:73–8.

    PubMed  CAS  Google Scholar 

  20. Nanayakkara P, Gans RO, Reichert-Thoen J, ter Wee PM. Serous retinal detachment as an early presentation of thrombotic thrombocytopenic purpura. Eur J Intern Med. 2000;11(5):286–8.

    PubMed  Google Scholar 

  21. Haemeter W. Presumed thrombotic thrombocytopenic purpura associated with bilateral serous retinal detachments. Am J Ophthalmol. 1988;105:421–2.

    Google Scholar 

  22. Piastra M, Currò V, Chiaretti A, Viola L, Tortorolo L, Polidori G. Intracranial hemorrhage at the onset of thrombotic thrombocytopenic purpura in an infant: therapeutic approach and intensive care management. Pediatr Emerg Care. 2001;17(1):42–5.

    PubMed  CAS  Google Scholar 

  23. Gum K, Carter K, Vine A. Massive bilateral retinal vascular occlusion secondary to thrombocytopenic purpura. Retina. 1988;8:185–7.

    PubMed  CAS  Google Scholar 

  24. Siegler R, Brewer E, Swartz M. Ocular involvement in hemolytic-uremic syndrome. J Pediatr. 1988;112: 594–7.

    PubMed  CAS  Google Scholar 

  25. Weyl M, Rivard G, O’Reagan S, et al. Haemolytic uremic syndrome: treatment with plasma, vitamin E and cod liver oil. Int J Pediatr Nephrol. 1983;4: 243–5.

    PubMed  CAS  Google Scholar 

  26. Morel-Maroger L, Kanfer A, Solez K, Sraer J-D, Richet G. Prognostic importance of vascular lesions in acute renal failure with microangiopathic hemolytic anemia (hemolytic-uremic syndrome): clinicopathologic study in 20 adults. Kidney Int. 1979;15: 548–58.

    PubMed  CAS  Google Scholar 

  27. Melton RC, Spaide RF. Visual problems as a presenting sign of thrombotic thrombocytopenic purpura. Retina. 1996;16(1):78–80.

    PubMed  CAS  Google Scholar 

  28. Bobbio-Pallavicini E, Porta C, Brocchieri A, Saporiti A, Tacconi F. Ocular involvement in acute thrombotic thrombocytopenic purpura. Haematologica. 1995;80(2):194–5.

    PubMed  CAS  Google Scholar 

  29. Colville D, Guymer R, Sinclair RA, Savige J. Visual impairment caused by retinal abnormalities in mesangiocapillary (membranoproliferative) glomerulonephritis type II (“dense deposit disease”). Am J Kidney Dis. 2003;42(2):E2–5.

    PubMed  Google Scholar 

  30. Strobel S, Zimmering M, Papp K, Prechl J, Józsi M. Anti-factor B autoantibody in dense deposit disease. Mol Immunol. 2010;47(7–8):1476–83. Epub 2010 Mar 1.

    PubMed  CAS  Google Scholar 

  31. Appel G, Cook TH, Hageman G, et al. Membranoproliferative glomerulonephritis type II (Dense deposit disease): an update. J Am Soc Nephrol. 2005;16:1392–403.

    PubMed  Google Scholar 

  32. Swainson CP, Robson JS, Thomson D, MacDonald MK. Mesangiocapillary glomerulonephritis: a long-term study of 40 cases. J Pathol. 1983;141(4): 449–68.

    PubMed  CAS  Google Scholar 

  33. Cameron S, Davison AM, Grünfeld JP, Kerr D, Ritz E, editors. Oxford textbook of clinical nephrology. 1st ed. New York: Oxford University Press; 1992.

    Google Scholar 

  34. Leys A, Proesmans W, Van Damme-Lombaerts R, Van Damme B. Specific eye fundus lesions in type II membranoproliferative glomerulonephritis. Pediatr Nephrol. 1991;5(2):189–92.

    PubMed  CAS  Google Scholar 

  35. Leys A, Michielsen B, Leys M, Vanrenterghem Y, Missotten L, Van Damme B. Subretinal neovascular membranes associated with chronic membranoproliferative glomerulonephritis type II. Graefes Arch Clin Exp Ophthalmol. 1990;228(6):499–504.

    PubMed  CAS  Google Scholar 

  36. Duvall-Young J, Short CD, Raines MF. Fundus changes in mesangiocapillary glomerulonephritis type II: clinical and angiographic findings. Br J Ophthalmol. 1991;73:900–6.

    Google Scholar 

  37. Alur RP, Cox TA, Crawford MA, Gong X, Brooks BP. Optic nerve axon number in mouse is regulated by PAX2. J AAPOS. 2008;12(2):117–21. Epub 2007 Dec 21.

    PubMed  Google Scholar 

  38. Parsa CF, Silva ED, Sundin OH, Goldberg MF, De Jong MR, Sunness JS, Zeimer R, Hunter DG. Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity. Ophthalmology. 2001;108(4):738–49.

    PubMed  CAS  Google Scholar 

  39. Devriendt K, Matthijs G, Van Damme B, Van Caesbroeck D, Eccles M, Vanrenterghem Y, Fryns JP, Leys A. Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). Hum Genet. 1998;103(2):149–53.

    PubMed  CAS  Google Scholar 

  40. Becker K, Beales PL, Calver DM, Matthijs G, Mohammed SN. Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families. J Med Genet. 2002;39(1):68–71.

    PubMed  CAS  Google Scholar 

  41. Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet. 1997;60(4):869–78.

    PubMed  CAS  Google Scholar 

  42. Yoshimura K, Yoshida S, Yamaji Y, Komori A, Yoshida A, Hatae K, Kubota T, Ishibashi T. De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. Am J Ophthalmol. 2005;139(4):733–5.

    PubMed  CAS  Google Scholar 

  43. Nguyen D, Riordan-Eva P. Abnormal optic discs and renal failure: papillorenal syndrome. Acta Ophthalmol Scand. 2006;84(6):823–4.

    PubMed  Google Scholar 

  44. Ohkubo S, et al. Immunohistochemical and molecular genetic evidence for type IV collagen α5 chain abnormalities in the anterior lenticonus associated with Alport syndrome. Arch Ophthalmol. 2003;121: 846–50.

    PubMed  CAS  Google Scholar 

  45. Chen L, Miyamura N, Ninomiya Y, Handa JT. Distribution of the collagen IV isoforms in human Bruch’s membrane. Br J Ophthalmol. 2003;87: 212–5.

    PubMed  CAS  Google Scholar 

  46. Mochizuki T, et al. Identification of mutations in the α3(IV) and α4(IV) collagen gene in autosomal recessive Alport syndrome. Nat Genet. 1994;8: 77–81.

    PubMed  CAS  Google Scholar 

  47. Yoshioka K, et al. Type IV collagen a5 chain: normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody. Am J Pathol. 1994;44:986–96.

    Google Scholar 

  48. Gross O, Kashtan CE. Treatment of Alport syndrome: beyond animal models. Kidney Int. 2009;76(6): 599–603. Epub 2009 Jun 17.

    PubMed  CAS  Google Scholar 

  49. Grunfeld JP. Contemporary diagnostic approach in Alport’s syndrome. Ren Fail. 2000;22:759–63.

    PubMed  CAS  Google Scholar 

  50. Rhys C, Snyers B, Pirson Y. Recurrent corneal ­erosion associated with Alport’s syndrome. Kidney Int. 1997;52:208–11.

    PubMed  CAS  Google Scholar 

  51. Savige J, Colville D. Opinion: ocular features aid the diagnosis of Alport syndrome. Nat Rev Nephrol. 2009;5(6):356–60.

    PubMed  Google Scholar 

  52. Perrin D, Jungers P, Grünfeld JP, Delons S, Noël LH, Zenatti C. Perimacular changes in Alport’s syndrome. Clin Nephrol. 1980;13(4):163–7.

    PubMed  CAS  Google Scholar 

  53. Colville D, Wang YY, Tan R, Savige J. The retinal “lozenge” or “dull macular reflex” in Alport syndrome may be associated with a severe retinopathy and early-onset renal failure. Br J Ophthalmol. 2009;93(3):383–6. Epub 2008 Nov 19.

    PubMed  CAS  Google Scholar 

  54. Tan R, Colville D, Wang YY, Rigby L, Savige J. Alport retinopathy results from “severe” COL4A5 mutations and predicts early renal failure. Clin J Am Soc Nephrol. 2009 [Epub ahead of print].

    Google Scholar 

  55. Davenport JR, Yoder BK. An incredible decade for the primary cilium: a look at a once-forgotten organelle. Am J Physiol Renal Physiol. 2005;289(6): F1159–69.

    PubMed  CAS  Google Scholar 

  56. Murga-Zamalloa CA, Swaroop A, Khanna H. RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction. J Genet. 2009;88(4):399–407.

    PubMed  CAS  Google Scholar 

  57. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet. 1999;36:437–46. Proc. Natl. Acad. Sci. U. S. A. 103:6287–6292.

    PubMed  CAS  Google Scholar 

  58. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O’Leary E, Pryse-Phillips W. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med. 1989;321:1002–9.

    PubMed  CAS  Google Scholar 

  59. Riise R. The cause of death in Laurence-Moon-Bardet-Biedl syndrome. Acta Ophthalmol Scand Suppl. 1996;219:45–7.

    PubMed  Google Scholar 

  60. Sharifian M, Dadkhah-Chimeh M, Einollahi B, Nafar M, Simforoush N, Basiri A, Otukesh H. Renal transplantation in patients with Bardet-Biedl syndrome. Arch Iran Med. 2007;10:339–42.

    PubMed  Google Scholar 

  61. Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci. 2006;47(11):5004–10.

    PubMed  Google Scholar 

  62. Malm E, et al. Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome. Arch Ophthalmol. 2008;126:51–7.

    PubMed  Google Scholar 

  63. Hanein S, et al. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype phenotype correlations as a strategy for molecular diagnosis. Hum Mutat. 2004;23:306–17.

    PubMed  CAS  Google Scholar 

  64. Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009;119(3):428–37. doi:10.1172/JCI37041. Epub 2009 Mar 2.

    PubMed  CAS  Google Scholar 

  65. Sadowski B, Baumeister FA, Schmitz T, Rudolph G. Onset of bilateral blindness in the first year of life. Alström syndrome. Ophthalmologe. 2004;101(3):298–300.

    PubMed  CAS  Google Scholar 

  66. Gerth C, Zawadzki RJ, Werner JS, Héon E. Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl syndrome evaluated by Fourier-domain optical coherence tomography. Vision Res. 2008;48(3):392–9. Epub 2007 Nov 5.

    PubMed  CAS  Google Scholar 

  67. Salomon R, Gubler MC, Antignac C. Nephronophthisis. In: Davidson AM, Cameron JS, Grünfeld JP, Ponticelli C, Ritz E, Winearb CG, Van Ypersele C, editors. Oxford text book of clinical nephrology, vol. 3. 3rd ed. Oxford: Oxford University Press; 2005. p. 2325–34.

    Google Scholar 

  68. Warady BA, Cibis G, Alon U, Blowey D, Hellerstein S. Senior-Loken syndrome: revisited. Pediatrics. 1994;94:111–2.

    PubMed  CAS  Google Scholar 

  69. Proesmans W, Van Damme B, Macken J. Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis. Clin Nephrol. 1975;3(4): 160–4.

    PubMed  CAS  Google Scholar 

  70. Senior B, Friedmann AI, Braudo JL. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol. 1961;52:625–33.

    PubMed  CAS  Google Scholar 

  71. Loken AC, Hanssen O, Halvorsen S, Jolster NJ. Hereditary renal dysplasia and blindness. Acta Paediatr. 1961;50:177–84.

    PubMed  CAS  Google Scholar 

  72. Senior-Loken syndrome 1. In: Online Mendelian inheritance in man. Bethesda: National Center for Biotechnology Information, National Library of Medicine. Available at: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266900.

  73. Dekaban A. Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys, and maldevelopment of the brain. Am J Ophthalmol. 1969;68:1029–37.

    PubMed  CAS  Google Scholar 

  74. Hussels IE. Congenital amaurosis and nephrophthisis: a new syndrome. Birth Defects Orig Artic Ser. 1971;7:199–201.

    PubMed  CAS  Google Scholar 

  75. Godel V, Iaina A, Nemet P, Lazar M. Retinal manifestations in familial juvenile nephronophthisis. Clin Genet. 1979;16:277–81.

    PubMed  CAS  Google Scholar 

  76. Schimke RN. Hereditary renal-retinal dysplasia. Ann Intern Med. 1969;70:735–44.

    PubMed  CAS  Google Scholar 

  77. Ticho B, Sieving PA. Leber’s congenital amaurosis with marbleized fundus and juvenile nephronophthisis. Am J Ophthalmol. 1989;107:426–8.

    PubMed  CAS  Google Scholar 

  78. Cella W, Lima LH, Wang NK, Tosi J, Yannuzzi LA, Tsang SH. Autofluorescence and high-resolution OCT findings revealed ciliopathy in Senior-Loken syndrome. Ophthalmic Surg Lasers Imaging. 2010;9:1–4. doi:10.3928/15428877-20100215-55[Epub ahead of print].

    Google Scholar 

  79. Andreasson S, Blennow G, Ehinger B, Stromland K. Full-field electroretinograms in patients with the carbohydrate-deficient glycoprotein syndrome. Am J Ophthalmol. 1991;112:83–6.

    PubMed  CAS  Google Scholar 

  80. Casteels I, Spileers W, Leys A, Lagae L, Jaeken J. Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type I over a period of 14 years. Br J Ophthalmol. 1996;80: 900–2.

    PubMed  CAS  Google Scholar 

  81. Fiumara A, Barone R, Buttitta P, et al. Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients. Br J Ophthalmol. 1994;78:845–6.

    PubMed  CAS  Google Scholar 

  82. De Lonlay P, Seta N, Barrot S, et al. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet. 2001;38:14–9.

    PubMed  Google Scholar 

  83. Stark KL, Gibson JB, Hertle RW, Brodsky MC. Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia. Am J Ophthalmol. 2000;130:533–5.

    PubMed  CAS  Google Scholar 

  84. Strömland K, Hagberg B, Kristiansson B. Ocular pathology in disialotransferrin developmental deficiency syndrome. Ophthalmic Paediatr Genet. 1990;11:309–11.

    PubMed  Google Scholar 

  85. Strömland K. Ahrnberg symposium. Acta Ophthalmol. 2000;78:730.

    Google Scholar 

  86. Jensen H, Kjaergaard S, Klie F, Moller HU. Ophthalmic manifestations of congenital disorder of glycosylation type 1a. Ophthalmic Genet. 2003;24(2): 81–8.

    PubMed  Google Scholar 

  87. Morava E, Wosik HN, Sykut-Cegielska J, Adamowicz M, Guillard M, Wevers RA, Lefeber DJ, Cruysberg JR. Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. Br J Ophthalmol. 2009;93(3):350–4. Epub 2008 Nov 19.

    PubMed  CAS  Google Scholar 

  88. Gahl WA, Thoene JG, Schneider JA. Cystinosis: a disorder of lysosomal membrane transport. In: Scriver CR, Beaudet AL, Valle D, et al., editors. The metabolic and molecular bases of inherited disease, vol. 3. 8th ed. New York: McGraw-Hill; 2001. p. 5085–108.

    Google Scholar 

  89. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347:111–21.

    PubMed  Google Scholar 

  90. Town M, Jean G, Cherqui S, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998;18:319–24.

    PubMed  CAS  Google Scholar 

  91. Kalatzis V, Cherqui S, Antignac C, Gasnier B. Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. EMBO J. 2001;20:5940–9.

    PubMed  CAS  Google Scholar 

  92. Offner G, Latta K, Hoyer PF, Baum H, Ehrich JH, Pichlmayr R, Brodehl J. Kidney transplanted children come of age. Kidney Int. 1999;55:1509–17.

    PubMed  CAS  Google Scholar 

  93. Theodoropoulos DS, Krasnewich D, Kaiser-Kupfer MI, Gahl W. Classic nephropathic cystinosis as an adult disease. JAMA. 1993;270:2200–4.

    PubMed  CAS  Google Scholar 

  94. Schneider JA, Schulman JD. Cystinosis: a review. Metabolism. 1977;26:817–39.

    PubMed  CAS  Google Scholar 

  95. Gahl WA, Jeuhl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab. 2000;71(1–2):100–20.

    PubMed  CAS  Google Scholar 

  96. Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab. 2000;71:100–20.

    PubMed  CAS  Google Scholar 

  97. Kleta R, Blair SC, Bernardini I, Kaiser-Kupfer MI, Gahl WA. Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis. Mayo Clin Proc. 2004;79:410–2.

    PubMed  Google Scholar 

  98. Tsilou E, Zhou M, Gahl W, Sieving PC, Chan C. Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature. Surv Ophthalmol. 2007;52(1):97–105.

    PubMed  Google Scholar 

  99. Soliman N, El-Baroudy R, Rizk A, Bazaraa H, Younan A. Nephropathic cystinosis in children: an overlooked disease. Saudi J Kidney Dis Transpl. 2009;20(3):436–42.

    PubMed  Google Scholar 

  100. Tsilou ET, Rubin BI, Reed G, et al. Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. Ophthalmology. 2006;113(6):1002–9.

    PubMed  Google Scholar 

  101. Read J, Goldberg MF, Fishman G, Rosenthal I. Nephropathic cystinosis. Am J Ophthalmol. 1973;76: 791–6.

    PubMed  CAS  Google Scholar 

  102. Fellers FX, Cogan DG. Cystinosis with extensive choroidal involvement. Arch Ophthalmol. 1965;74:868–9.

    Google Scholar 

  103. Nadim F, Walid H, Abib J. The differential diagnosis of crystals in the retina. Int Ophthalmol. 2002;24: 113–21.

    Google Scholar 

  104. Sanderson PO, Kuwabara T, Stark WJ, Wong VG, Collins EM. Cystinosis, a clinical, histopathologic and ultrastructural study. Arch Ophthalmol. 1974;91: 270–4.

    PubMed  CAS  Google Scholar 

  105. Wong VG, Lietman PS, Seegmiller JE. Alterations of pigment epithelium in cystinosis. Arch Ophthalmol. 1967;77:361–9.

    PubMed  CAS  Google Scholar 

  106. Dufier JL, Dhermy P, Gubler MC, et al. Ocular changes in long-term evolution of infantile cystinosis. Ophthalmic Paediatr Genet. 1987;8:131–7.

    PubMed  CAS  Google Scholar 

  107. Francois J, Hanssens M, Coppieters R, Evens L. Cystinosis. A clinical and histopathologic study. Am J Ophthalmol. 1972;73:643–50.

    PubMed  CAS  Google Scholar 

  108. Park M, Helip-Wooley A, Thoene J. Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells. J Am Soc Nephrol. 2002;13:2878–87.

    PubMed  CAS  Google Scholar 

  109. Park MA, Thoene JG. Potential role of apoptosis in development of the cystinotic phenotype. Pediatr Nephrol. 2005;20:441–6.

    PubMed  Google Scholar 

  110. Gahl WA, Charnas L, Markello TC, et al. Parenchymal organ cystine depletion with long-term cysteamine therapy. Biochem Med Metab Biol. 1992;48: 275–85.

    PubMed  CAS  Google Scholar 

  111. Cantani A, Giardini O, Ciarnella Cantani A. Nephropathic cystinosis: ineffectiveness of cysteamine therapy for ocular changes. Am J Ophthalmol. 1983;95:713–4.

    PubMed  CAS  Google Scholar 

  112. Gahl WA, Kuehl EM, Iwata F, et al. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Mol Genet Metab. 2000;71:100–2023.

    PubMed  CAS  Google Scholar 

  113. Kaiser-Kupfer MI, Gazzo MA, Datiles MB, et al. A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis. Arch Ophthalmol. 1990;108:689–93.

    PubMed  CAS  Google Scholar 

  114. Kaiser-Kupfer MI, Fujikawa L, Kuwabara T, Jain S, Gahl WA. Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. N Engl J Med. 1987;316:775–9.

    PubMed  CAS  Google Scholar 

  115. Livtchenko EN, van Dael CM, de Graaf-Hess AC, et al. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol. 2006;21(1):110–3.

    Google Scholar 

  116. Dureau P, Broyer M, Dufier JL. Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine. J Pediatr Ophthalmol Strabismus. 2003;40(3): 142–6.

    PubMed  Google Scholar 

  117. Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry’s disease. Arch Ophthalmol. 1979;97:671–6.

    PubMed  CAS  Google Scholar 

  118. Utsumi K, Yamamoto N, Kase R, et al. High incidence of thrombosis in Fabry’s disease. Intern Med. 1997;36:327–9.

    PubMed  CAS  Google Scholar 

  119. Oto S, Kart H, Kadayifcilar S, et al. Retinal vein occlusion in a woman with heterozygous Fabry’s disease. Eur J Ophthalmol. 1998;8:265–7.

    PubMed  CAS  Google Scholar 

  120. Dantas MA, Fonseca RA, Kaga T, et al. Retinal and choroidal vascular changes in heterozygous Fabry disease. Retina. 2001;21:87–9.

    PubMed  CAS  Google Scholar 

  121. Andersen MV, Dahl H, Fledelius H, et al. Central retinal artery occlusion in a patient with Fabry’s disease documented by scanning laser ophthalmoscopy. Acta Ophthalmol (Copenh). 1994;72:635–8.

    CAS  Google Scholar 

  122. Sher NA, Reiff W, Letson RD, et al. Central retinal artery occlusion complicating Fabry’s disease. Arch Ophthalmol. 1978;96:815–7.

    PubMed  CAS  Google Scholar 

  123. Oto S, Kart H, Kadayifcilar S, et al. Retinal vein occlusion in a woman with heterozygous Fabry’s disease. Eur J Ophthalmol. 1998;8:265–7.

    PubMed  CAS  Google Scholar 

  124. Orssaud C, Dufier J, Germain D. Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients. Ophthalmic Genet. 2003;24:129–39.

    PubMed  Google Scholar 

  125. Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999;281: 249–54.

    PubMed  CAS  Google Scholar 

  126. Morgan SH, Crawfurd MA. Anderson-Fabry disease. BMJ. 1988;297:872–3.

    PubMed  CAS  Google Scholar 

  127. Breckenridge WC, Gombos G, Morgan IG. The lipid composition of adult rat brain peroxisomal plasma membranes. Biochim Biophys Acta. 1972;266:695–707.

    PubMed  CAS  Google Scholar 

  128. Anderson RE, Benolken RM, Dudley PA, Landis DJ, Wheeler TG. Polyunsaturated fatty acids of photoreceptor membranes. Exp Eye Res. 1974;18:205–13.

    PubMed  CAS  Google Scholar 

  129. Bush RA, Malnoe A, Reme CE, Williams TP. Dietary deficiency of N-3 fatty acids alters rhodopsin content and function in the rat. Invest Ophthalmol Vis Sci. 1994;355:91–100.

    Google Scholar 

  130. Neuringer M, Connor WE, Lin DS, Barstad L, Luck S. Biochemical and functional effects of prenatal and postnatal n-3 fatty acid deficiency on retina and brain in rhesus monkeys. Proc Natl Acad Sci USA. 1986;83: 4021–5.

    PubMed  CAS  Google Scholar 

  131. Rotstein NP, Politi LE, Aveldaño MI. Docosahexaenoic acid promotes differentiation of developing photoreceptors in culture. Invest Ophthalmol Vis Sci. 1998;39:2750–8.

    PubMed  CAS  Google Scholar 

  132. FitzPatrick DR. Zellweger syndrome and associated phenotypes. J Med Genet. 1996;33:863–8.

    PubMed  CAS  Google Scholar 

  133. Folz SJ, Trobe JD. The peroxisome and the eye. Surv Ophthalmol. 1991;35:353–68.

    PubMed  CAS  Google Scholar 

  134. Stanescu B, Dralands L. Cerebro-hepato-renal (Zellweger’s) syndrome. Ocular involvement. Arch Ophthalmol. 1972;87:590–2.

    PubMed  CAS  Google Scholar 

  135. Martinez M, Vazquez E, García Silva MT, Manzanares J, Bertran JM, Castell F, Mougan I. Therapeutical effects of docosahexaenoic acid in patients with generalized peroxisomal disorders. Am J Clin Nutr. 2000;71:376S–85.

    PubMed  CAS  Google Scholar 

  136. Hittner HM, Kretzer FL, Mehta RS. Zellweger syndrome. Lenticular opacities indicating carrier status and lens abnormalities characteristic of homozygotes. Arch Ophthalmol. 1981;99:1977–82.

    PubMed  CAS  Google Scholar 

  137. Claridge KG, Gibberd FB, Sidey MC. Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. Eye. 1992;6:371–5.

    PubMed  Google Scholar 

  138. Sgambati MT, Stolle C, Choyke PL, et al. Mosaicism in von Hippel–Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am J Hum Genet. 2000;66: 84–91.

    PubMed  CAS  Google Scholar 

  139. Maher ER, Moore AT. Von Hippel-Lindau disease. Br J Ophthalmol. 1992;76:743.

    PubMed  CAS  Google Scholar 

  140. Neumann HP. Basic criteria for clinical diagnosis and genetic counselling in von Hippel-Lindau syndrome. Vasa. 1987;16:220–6.

    PubMed  CAS  Google Scholar 

  141. Niemelä M, Lemeta S, Sainio M, et al. Hemangioblastomas of the retina: impact of von Hippel-Lindau disease. Invest Ophthalmol Vis Sci. 2000;41:1909–15.

    PubMed  Google Scholar 

  142. Wong WT, Chew EY. Ocular von Hippel-Lindau disease: clinical update and emerging treatments. Curr Opin Ophthalmol. 2008;19(3):213–7.

    PubMed  Google Scholar 

  143. Melmon KL, Rosen SW. Lindau’s disease: review of the literature and study of a large kindred. Am J Med. 1964;36:595–617.

    PubMed  CAS  Google Scholar 

  144. Wong WT, Yeh S, Chan CC, Kalina RE, Kinyoun JL, Folk JC, Coleman HR, Chew EY. Retinal vascular proliferation as an ocular manifestation of von Hippel-Lindau disease. Arch Ophthalmol. 2008;126(5):637–43.

    PubMed  Google Scholar 

  145. Kreusel KM, Bechrakis NE, Krause L, et al. Retinal angiomatosis in von Hippel-Lindau disease: a longitudinal ophthalmologic study. Ophthalmology. 2006;113:1418–24.

    PubMed  Google Scholar 

  146. Kurli M, Finger PT. The kidney, cancer, and the eye: current concepts. Surv Ophthalmol. 2005;50(6): 507–18.

    PubMed  Google Scholar 

  147. Schmidt D, Natt E, Neumann HPH. Long-term results of laser treatment for retinal angiomatosis in von Hippel-Lindau disease. Eur J Med Res. 2000;5:47–58.

    PubMed  CAS  Google Scholar 

  148. Schlesinger T, Appukuttan B, Hwang T, et al. Internal en bloc resection and genetic analysis of retinal capillary hemangioblastoma. Arch Ophthalmol. 2007;125:1189–93.

    PubMed  CAS  Google Scholar 

  149. Lin J, Markowitz GS, Valeri AM, et al. Renal monoclonal immunoglobulin deposition disease: the disease spectrum. J Am Soc Nephrol. 2001;12: 1482–92.

    PubMed  CAS  Google Scholar 

  150. Montseny JJ, Kleinknecht D, Meyrier A, et al. Longterm outcome according to renal histological lesions in 118 patients with monoclonal gammopathies. Nephrol Dial Transplant. 1998;13:1438–45.

    PubMed  CAS  Google Scholar 

  151. Pozzi C, D’Amico M, Fogazzi GB, Curioni S, Ferrario F, Pasquali S, Quattrocchio G, Rollino C, Segagni S, Locatelli F. Light chain deposition disease with renal involvement: clinical characteristics and prognostic factors. Am J Kidney Dis. 2003;42(6): 1154–63.

    PubMed  Google Scholar 

  152. Daicker BC, Mihatsch MJ, Strøm EH, Fogazzi GB. Ocular pathology in light chain deposition disease. Eur J Ophthalmol. 1995;5(2):75–81.

    PubMed  CAS  Google Scholar 

  153. Spielberg L, Leys A, Heckenlively J. Retinal pigment epithelial detachments and tears in light chain deposition disease. Association for Research in vision and ophthalmology (ARVO) Annual meeting, Fort Lauderdale, May 2010.

    Google Scholar 

  154. Spielberg L, Heckenlively J, Leys A. Retinal pigment epithelial detachments and tears in light chain deposition disease. Retina. In review.

    Google Scholar 

  155. Scheie HG. Evaluation of ophthalmoscopic changes of hypertension and arteriolar sclerosis. Arch 2107 Ophthalmol. 1953;49:117–24.

    CAS  Google Scholar 

  156. Keith NM, Wagener HP, Barker MW. Some different types of essential hypertension: their course and prognosis. Am J Med Sci. 1939;197:332–43.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Ophthalmology, The Rotterdam Eye Hospital, Schiedamse Vest 180, Rotterdam, 3011 BH, The Netherlands

    Leigh H. Spielberg M.D.

  2. Department of Ophthalmology, Medical Retina, University Hospital Leuven, Capucijnenvoer 33, Leuven, 3000, Belgium

    Anita M. Leys M.D., Ph.D.

Authors
  1. Leigh H. Spielberg M.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Anita M. Leys M.D., Ph.D.
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Leigh H. Spielberg M.D. .

Editor information

Editors and Affiliations

  1. Johns Hopkins University, School of Medicine, The Retina Division,Wilmer Eye Institute, Al-Oruba Street, PO Box 7191, Riyadh, 1010, Saudi Arabia

    J. Fernando Arévalo

Rights and permissions

Reprints and permissions

Copyright information

© 2013 Springer Science+Business Media New York

About this chapter

Cite this chapter

Spielberg, L.H., Leys, A.M. (2013). Retinal and Choroidal Manifestations of Renal Diseases. In: Arévalo, J. (eds) Retinal and Choroidal Manifestations of Selected Systemic Diseases. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-3646-1_27

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-3646-1_27

  • Published:

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4614-3645-4

  • Online ISBN: 978-1-4614-3646-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation