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Macular Changes in Generalized Retinal Dystrophies and in Cone Dystrophies

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Macular Dystrophies

Abstract

Macular changes in generalized retinal dystrophies may vary from slight pigmentary changes to atrophic lesions or bull’s-eye retinopathy. However, often in the initial stage of the disease, no changes may be found in the posterior pole. Cystoid macular edema can lead to visual disturbance in the early phase of certain types of retinal dystrophies. Sometimes, they may respond to oral acetazolamide. In cone dystrophies, no clear abnormalities may be found in the macula in the early stages. Electrophysiological tests, like multifocal electroretinography and optical coherence tomography, are needed to make the diagnosis. Most frequent macular changes, however, are pigmentary changes and bull’s-eye retinopathy.

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References

  1. Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol. 1984;97(3):357–65.

    Article  CAS  PubMed  Google Scholar 

  2. Hamel CP. Cone rod dystrophies. Orphanet J Rare Dis. 2007;2:7.

    Article  PubMed Central  PubMed  Google Scholar 

  3. Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006;1:40.

    Article  PubMed Central  PubMed  Google Scholar 

  4. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368(9549):1795–809.

    Article  CAS  PubMed  Google Scholar 

  5. Berson EL. Retinitis pigmentosa. The Friedenwald lecture. Invest Ophthalmol Vis Sci. 1993;34(5):1659–76.

    CAS  PubMed  Google Scholar 

  6. Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP. Causes and consequences of inherited cone disorders. Prog Retin Eye Res. 2014;42:1–26.

    Article  CAS  PubMed  Google Scholar 

  7. Testa F, Rossi S, Colucci R, Gallo B, Di Iorio V, della Corte M, et al. Macular abnormalities in Italian patients with retinitis pigmentosa. Br J Ophthalmol. 2014;98(7):946–50.

    Article  PubMed Central  PubMed  Google Scholar 

  8. Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, et al. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012;119(4):819–26.

    Article  PubMed  Google Scholar 

  9. Burke TR, Yzer S, Zernant J, Smith RT, Tsang SH, Allikmets R. Abnormality in the external limiting membrane in early Stargardt disease. Ophthalmic Genet. 2013;34(1–2):75–7.

    Article  PubMed Central  PubMed  Google Scholar 

  10. Lee W, Nõupuu K, Oll M, Duncker T, Burke T, Zernant J, et al. The external limiting membrane in early-onset Stargardt disease. Invest Ophthalmol Vis Sci. 2014;55(10):6139–49.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  11. Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Coon CJ, et al. Early-onset stargardt disease: phenotypic and genotypic characteristics. Ophthalmology. 2015;122(2):335–44.

    Article  PubMed  Google Scholar 

  12. Pinckers A, Cruysberg JR, de Kerk AL. Main types of bull’s eye maculopathy. Functional classification. Doc Ophthalmol. 1984;58(3):257–67.

    Article  CAS  PubMed  Google Scholar 

  13. Hobbs HE, Sorsby A, Freedman A. Retinopathy following chloroquine therapy. Lancet. 1959;2(7101):478–80.

    Article  CAS  PubMed  Google Scholar 

  14. Campo RV, Aaberg TM. Ocular and systemic manifestations of the Bardet-Biedl syndrome. Am J Ophthalmol. 1982;94(6):750–6.

    Article  CAS  PubMed  Google Scholar 

  15. Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, et al. Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families. Am J Ophthalmol. 2003;136(4):678–87.

    Article  CAS  PubMed  Google Scholar 

  16. Kikawa E, Nakazawa M, Chida Y, Shiono T, Tamai M. A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull’s-eye maculopathy detected by nonradioisotopic SSCP. Genomics. 1994;20(1):137–9.

    Article  CAS  PubMed  Google Scholar 

  17. Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, et al. The PROM1 mutation p.R373C causes an autosomal dominant bull’s eye maculopathy associated with rod, rod-cone, and macular dystrophy. Invest Ophthalmol Vis Sci. 2010;51(9):4771–80.

    Article  PubMed Central  PubMed  Google Scholar 

  18. Suzuki R, Hirose T. Bull’s-eye macular dystrophy associated with peripheral involvement. Ophthalmol J Int Ophtalmol Int J Ophthalmol Z Augenheilkd. 1998;212(4):260–7.

    Article  CAS  Google Scholar 

  19. Greenstein VC, Duncker T, Holopigian K, Carr RE, Greenberg JP, Tsang SH, Hood DC. Structural and functional changes associated with normal and abnormal fundus autofluorescence in patients with retinitis pigmentosa. Retina. 2012;32(2):349–57.

    Article  PubMed Central  PubMed  Google Scholar 

  20. Popovic P, Jarc-Vidmar M, Hawlina M. Abnormal fundus autofluorescence in relation to retinal function in patients with retinitis pigmentosa. Graefes Arch Clin Exp Ophthalmol. 2005;243(10):1018–27.

    Article  PubMed  Google Scholar 

  21. Lima LH, Cella W, Greenstein VC, Wang NK, Busuioc M, Smith RT, et al. Structural assessment of hyperautofluorescent ring in patients with retinitis pigmentosa. Retina. 2009;29(7):1025–31.

    Article  PubMed Central  PubMed  Google Scholar 

  22. Delori FC, Dorey CK, Staurenghi G, Arend O, Goger DG, Weiter JJ. In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics. Invest Ophthalmol Vis Sci. 1995;36(3):718–29.

    CAS  PubMed  Google Scholar 

  23. Ganesh A, Stroh E, Manayath GJ, Al-Zuhaibi S, Levin AV. Macular cysts in retinal dystrophy. Curr Opin Ophthalmol. 2011;22(5):332–9.

    Article  PubMed  Google Scholar 

  24. Newsome DA. Retinal fluorescein leakage in retinitis pigmentosa. Am J Ophthalmol. 1986;101(3):354–60.

    Article  CAS  PubMed  Google Scholar 

  25. Hirakawa H, Iijima H, Gohdo T, Tsukahara S. Optical coherence tomography of cystoid macular edema associated with retinitis pigmentosa. Am J Ophthalmol. 1999;128(2):185–91.

    Article  CAS  PubMed  Google Scholar 

  26. Fishman GA, Fishman M, Maggiano J. Macular lesions associated with retinitis pigmentosa. Arch Ophthalmol. 1977;95(5):798–803.

    Article  CAS  PubMed  Google Scholar 

  27. Fetkenhour CL, Choromokos E, Weinstein J, Shoch D. Cystoid macular edema in retinitis pigmentosa. Trans Am Acad Opthalmol Otolaryngol. 1977;83(3 Pt 1):OP515–21.

    CAS  Google Scholar 

  28. Walia S, Fishman GA, Hajali M. Prevalence of cystic macular lesions in patients with Usher II syndrome. Eye (Lond). 2009;23(5):1206–9.

    Article  CAS  Google Scholar 

  29. Kim YJ, Joe SG, Lee DH, Lee JY, Kim JG, Yoon YH. Correlations between spectral-domain OCT measurements and visual acuity in cystoid macular edema associated with retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013;54(2):1303–9.

    Article  PubMed  Google Scholar 

  30. Stanga PE, Downes SM, Ahuja RM, Chong NH, Antcliff R, Reck AC, Bird AC. Comparison of optical coherence tomography and fluorescein angiography in assessing macular edema in retinal dystrophies: preliminary results. Int Ophthalmol. 2001;23(4–6):321–5.

    Article  CAS  PubMed  Google Scholar 

  31. Apushkin MA, Fishman GA, Janowicz MJ. Monitoring cystoid macular edema by optical coherence tomography in patients with retinitis pigmentosa. Ophthalmology. 2004;111(10):1899–904.

    Article  PubMed  Google Scholar 

  32. Hagiwara A, Yamamoto S, Ogata K, Sugawara T, Hiramatsu A, Shibata M, Mitamura Y. Macular abnormalities in patients with retinitis pigmentosa: prevalence on OCT examination and outcomes of vitreoretinal surgery. Acta Ophthalmol. 2011;89(2):e122–5.

    Article  PubMed  Google Scholar 

  33. Pruett RC. Retinitis pigmentosa: clinical observations and correlations. Trans Am Ophthalmol Soc. 1983;81:693–735.

    PubMed Central  CAS  PubMed  Google Scholar 

  34. Vingolo EM, Giusti C, Forte R, Onori P. Vitreal alterations in retinitis pigmentosa: biomicroscopic appearance and statistical evaluation. Ophthalmologica. 1996;210(2):104–7.

    Article  CAS  PubMed  Google Scholar 

  35. Yoshida N, Ikeda Y, Notomi S, Ishikawa K, Murakami Y, Hisatomi T, et al. Clinical evidence of sustained chronic inflammatory reaction in retinitis pigmentosa. Ophthalmology. 2013;120(1):100–5.

    Article  PubMed  Google Scholar 

  36. Takezawa M, Tetsuka S, Kakehashi A. Tangential vitreous traction: a possible mechanism of development of cystoid macular edema in retinitis pigmentosa. Clin Ophthalmol. 2011;5:245–8.

    PubMed Central  PubMed  Google Scholar 

  37. Salvatore S, Fishman GA, Genead MA. Treatment of cystic macular lesions in hereditary retinal dystrophies. Surv Ophthalmol. 2013;58(6):560–84.

    Article  PubMed  Google Scholar 

  38. Cox SN, Hay E, Bird AC. Treatment of chronic macular edema with acetazolamide. Acta Ophthalmol. 1988;106(9):1190–5.

    CAS  Google Scholar 

  39. Moldow B, Sander B, Larsen M, Engler C, Li B, Rosenberg T, Lund-Andersen H. The effect of acetazolamide on passive and active transport of fluorescein across the blood-retina barrier in retinitis pigmentosa complicated by macular oedema. Graefes Arch Clin Exp Ophthalmol. 1998;236(12):881–9.

    Article  CAS  PubMed  Google Scholar 

  40. Grunwald JE, Mathur S, DuPont J. Effects of dorzolamide hydrochloride 2% on the retinal circulation. Acta Ophthalmol Scand. 1997;75(3):236–8.

    Article  CAS  PubMed  Google Scholar 

  41. Triolo G, Pierro L, Parodi MB, De Bendedetto U, Gagliardi M, Manitto MP, Bandello F. Spectral domain optical coherence tomography findings in patients with retinitis pigmentosa. Ophthalmic Res. 2013;50(3):160–4.

    Article  PubMed  Google Scholar 

  42. Duncan JL, Zhang Y, Gandhi J, Nakanishi C, Othman M, Branham KE, et al. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci. 2007;48(7):3283–91.

    Article  PubMed  Google Scholar 

  43. Kurz-Levin MM, Halfyard AS, Bunce C, Bird AC, Holder GE. Clinical variations in assessment of bull’s-eye maculopathy. Acta Ophthalmol. 2002;120(5):567–75.

    Google Scholar 

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Correspondence to Carel B. Hoyng MD, PhD .

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Hoyng, C.B., van Huet, R.A.C. (2016). Macular Changes in Generalized Retinal Dystrophies and in Cone Dystrophies. In: Querques, G., Souied, E. (eds) Macular Dystrophies. Springer, Cham. https://doi.org/10.1007/978-3-319-26621-3_4

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  • DOI: https://doi.org/10.1007/978-3-319-26621-3_4

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