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Other Macular Dystrophies 1

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Inherited Retinal Disease

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Abstract

Various rare macular dystrophies have been reported with various prognoses, some with known causative genes with mutation. Diagnosis can be made clinically with typical cases, but many require genetic testing for confirmative diagnosis.

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References

  1. Miyake Y, Ichikawa K, Shiose Y, Kawase Y. Hereditary macular dystrophy without visible fundus abnormality. Am J Ophthalmol. 1989;108(3):292–9.

    Article  CAS  Google Scholar 

  2. Ahn SJ, Cho SI, Ahn J, Park SS, Park KH, Woo SJ. Clinical and genetic characteristics of Korean occult macular dystrophy patients. Invest Ophthalmol Vis Sci. 2013;54(7):4856–63.

    Article  Google Scholar 

  3. Kim YG, Baek SH, Moon SW, Lee HK, Kim US. Analysis of spectral domain optical coherence tomography findings in occult macular dystrophy. Acta Ophthalmol. 2011;89(1):e52–6.

    Article  Google Scholar 

  4. Fujinami K, Yang L, Joo K, Tsunoda K, Kameya S, Hanazono G, et al. Clinical and genetic characteristics of east Asian patients with occult macular dystrophy (Miyake disease): East Asia occult macular dystrophy studies report number 1. Ophthalmology. 2019;126(10):1432–44.

    Article  Google Scholar 

  5. Tsunoda K, Usui T, Hatase T, Yamai S, Fujinami K, Hanazono G, et al. Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene. Retina. 2012;32(6):1135–47.

    Article  CAS  Google Scholar 

  6. Fujinami K, Tsunoda K, Hanazono G, Shinoda K, Ohde H, Miyake Y. Fundus autofluorescence in autosomal dominant occult macular dystrophy. Arch Ophthalmol. 2011;129(5):597–602.

    Article  Google Scholar 

  7. Miyake Y, Horiguchi M, Tomita N, Kondo M, Tanikawa A, Takahashi H, et al. Occult macular dystrophy. Am J Ophthalmol. 1996;122(5):644–53.

    Article  CAS  Google Scholar 

  8. Piao CH, Kondo M, Tanikawa A, Terasaki H, Miyake Y. Multifocal electroretinogram in occult macular dystrophy. Invest Ophthalmol Vis Sci. 2000;41(2):513–7.

    CAS  PubMed  Google Scholar 

  9. Park SJ, Woo SJ, Park KH, Hwang JM, Chung H. Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci. 2010;51(7):3673–9.

    Article  Google Scholar 

  10. Ahn SJ, Ahn J, Park KH, Woo SJ. Multimodal imaging of occult macular dystrophy. JAMA Ophthalmol. 2013;131(7):880–90.

    Article  Google Scholar 

  11. Kitaguchi Y, Kusaka S, Yamaguchi T, Mihashi T, Fujikado T. Detection of photoreceptor disruption by adaptive optics fundus imaging and Fourier-domain optical coherence tomography in eyes with occult macular dystrophy. Clin Ophthalmol. 2011;5:345–51.

    Article  Google Scholar 

  12. Yang L, Joo K, Tsunoda K, Kondo M, Fujinami-Yokokawa Y, Arno G, et al. Spatial functional characteristics of east Asian patients with occult macular dystrophy (Miyake disease); EAOMD report no. 2. Am J Ophthalmol. 2021;221:169–80.

    Article  Google Scholar 

  13. Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, et al. Dominant mutations in RP1L1 are responsible for occult macular dystrophy. Am J Hum Genet. 2010;87(3):424–9.

    Article  CAS  Google Scholar 

  14. Chen CJ, Scholl HP, Birch DG, Iwata T, Miller NR, Goldberg MF. Characterizing the phenotype and genotype of a family with occult macular dystrophy. Arch Ophthalmol. 2012;130(12):1554–9.

    Article  Google Scholar 

  15. Deutman AF, van Blommestein JD, Henkes HE, Waardenburg PJ, Solleveld-van DE. Butterfly-shaped pigment dystrophy of the fovea. Arch Ophthalmol. 1970;83(5):558–69.

    Article  CAS  Google Scholar 

  16. Zhang K, Garibaldi DC, Li Y, Green WR, Zack DJ. Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report. Arch Ophthalmol. 2002;120(4):485–90.

    Article  Google Scholar 

  17. Khoubian FJ, Shakin EP, Tantri A, Kim DY, Edwards AO, Donoso LA. Autosomal dominant pattern dystrophy: identification of a novel splice site mutation in the peripherin/RDS gene. Retina. 2005;25(8):999–1004.

    Article  Google Scholar 

  18. Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Prog Retin Eye Res. 2008;27(2):213–35.

    Article  CAS  Google Scholar 

  19. Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, et al. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nat Genet. 2016;48(2):144–51.

    Article  CAS  Google Scholar 

  20. Sorsby A, Mason ME. A fundus dystrophy with unusual features. Br J Ophthalmol. 1949;33(2):67–97.

    Article  CAS  Google Scholar 

  21. Koutresi D, Clarke B, Lotery AJ, De Salvo G. Sorsby fundus dystrophy with polypoidal choroidal vasculopathy: Extending TIMP3 phenotypes. Clin Exp Ophthalmol. 2019;47(9):1214–8.

    Article  Google Scholar 

  22. Capon MR, Marshall J, Krafft JI, Alexander RA, Hiscott PS, Bird AC. Sorsby’s fundus dystrophy. A light and electron microscopic study. Ophthalmology. 1989;96(12):1769–77.

    Article  CAS  Google Scholar 

  23. Gliem M, Muller PL, Mangold E, Holz FG, Bolz HJ, Stohr H, et al. Sorsby fundus dystrophy: novel mutations, novel phenotypic characteristics, and treatment outcomes. Invest Ophthalmol Vis Sci. 2015;56(4):2664–76.

    Article  CAS  Google Scholar 

  24. Spaide RF. Long-term visual acuity preservation in Sorsby fundus dystrophy with corticosteroid treatment. Retin Cases Brief Rep. 2019; https://doi.org/10.1097/ICB.0000000000000946.

  25. Gemenetzi MK, Luff AJ, Lotery AJ. Successful treatment of choroidal neovascularization secondary to sorsby fundus dystrophy with intravitreal bevacizumab. Retin Cases Brief Rep. 2011;5(2):132–5.

    Article  Google Scholar 

  26. Ahmed I, McDonald HR, Schatz H, Johnson RN, Ai E, Cruess AF, et al. Crystalline retinopathy associated with chronic retinal detachment. Arch Ophthalmol. 1998;116(11):1449–53.

    Article  CAS  Google Scholar 

  27. Bernauer W, Daicker B. Bietti’s corneal-retinal dystrophy. A 16-year progression. Retina. 1992;12(1):18–20.

    Article  CAS  Google Scholar 

  28. Miyata M, Oishi A, Hasegawa T, Ishihara K, Oishi M, Ogino K, et al. Choriocapillaris flow deficit in Bietti crystalline dystrophy detected using optical coherence tomography angiography. Br J Ophthalmol. 2018;102(9):1208–12.

    Article  Google Scholar 

  29. Hirashima T, Miyata M, Ishihara K, Hasegawa T, Sugahara M, Ogino K, et al. Choroidal vasculature in Bietti crystalline dystrophy with CYP4V2 mutations and in retinitis pigmentosa with EYS mutations. Invest Ophthalmol Vis Sci. 2017;58(10):3871–8.

    Article  Google Scholar 

  30. Wilson DJ, Weleber RG, Klein ML, Welch RB, Green WR. Bietti’s crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol. 1989;107(2):213–21.

    Article  CAS  Google Scholar 

  31. Murakami Y, Koyanagi Y, Fukushima M, Yoshimura M, Fujiwara K, Akiyama M, et al. Genotype and long-term clinical course of Bietti crystalline dystrophy in Korean and Japanese patients. Ophthalmol Retina. 2021; https://doi.org/10.1016/j.oret.2021.02.009.

  32. Tsang SH, Sharma T. Doyne honeycomb retinal dystrophy (malattia leventinese, autosomal dominant drusen). Adv Exp Med Biol. 2018;1085:97–102.

    Article  Google Scholar 

  33. Serra R, Coscas F, Messaoudi N, Srour M, Souied E. Choroidal neovascularization in malattia leventinese diagnosed using optical coherence tomography angiography. Am J Ophthalmol. 2017;176:108–17.

    Article  Google Scholar 

  34. Corbelli E, Corvi F, Carnevali A, Querques L, Zucchiatti I, Bandello F, et al. Optical coherence tomography angiography demonstration of choroidal neovascularization in malattia leventinese. Ophthalmic Surg Lasers Imaging Retina. 2016;47(6):602–4.

    Article  Google Scholar 

  35. Sohn EH, Wang K, Thompson S, Riker MJ, Hoffmann JM, Stone EM, et al. Comparison of drusen and modifying genes in autosomal dominant radial drusen and age-related macular degeneration. Retina. 2015;35(1):48–57.

    Article  CAS  Google Scholar 

  36. Stone EM, Lotery AJ, Munier FL, Heon E, Piguet B, Guymer RH, et al. A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy. Nat Genet. 1999;22(2):199–202.

    Article  CAS  Google Scholar 

  37. Zhang K, Sun X, Chen Y, Zhong Q, Lin L, Gao Y, et al. Doyne honeycomb retinal dystrophy/malattia leventinese induced by EFEMP1 mutation in a Chinese family. BMC Ophthalmol. 2018;18(1):318.

    Article  Google Scholar 

  38. Lefler WH, Wadsworth JA, Sidbury JB Jr. Hereditary macular degeneration and amino-aciduria. Am J Ophthalmol. 1971;71(1 Pt 2):224–30.

    Article  CAS  Google Scholar 

  39. Small KW, Weber JL, Roses A, Lennon F, Vance JM, Pericak-Vance MA. North Carolina macular dystrophy is assigned to chromosome 6. Genomics. 1992;13(3):681–5.

    Article  CAS  Google Scholar 

  40. Weleber RG. Dysregulation of retinal transcription factor PRDM13 and North Carolina macular dystrophy. Ophthalmology. 2016;123(1):2–4.

    Article  Google Scholar 

  41. Small KW, DeLuca AP, Whitmore SS, Rosenberg T, Silva-Garcia R, Udar N, et al. North Carolina macular dystrophy is caused by dysregulation of the retinal transcription factor PRDM13. Ophthalmology. 2016;123(1):9–18.

    Article  Google Scholar 

  42. Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ. Dominant cystoid macular dystrophy. Ophthalmology. 2015;122(1):180–91.

    Article  Google Scholar 

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Authors and Affiliations

  1. Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea

    Joo Young Shin

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  1. Joo Young Shin
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Editors and Affiliations

  1. Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea (Republic of)

    Hyeong-Gon Yu

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Shin, J.Y. (2022). Other Macular Dystrophies 1. In: Yu, HG. (eds) Inherited Retinal Disease. Springer, Singapore. https://doi.org/10.1007/978-981-16-7337-5_13

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  • DOI: https://doi.org/10.1007/978-981-16-7337-5_13

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  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-16-7336-8

  • Online ISBN: 978-981-16-7337-5

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