Skip to main content
SpringerLink
Log in

Approach to Inherited Retinal Diseases

  • Chapter
  • First Online:
Inherited Retinal Disease

Abstract

Inherited retinal diseases (IRDs) are a genetically and phenotypically heterogeneous group of neurodegenerative disorders. An accurate assessment and diagnosis of IRDs are important, as it allows the patient to be aware of their visual limitations and helps to determine their visual prognosis. Furthermore, through appropriate examination, physicians will be able to detect and manage treatable complications, such as cataract and cystoid macular edema, monitor for other systemic involvement, provide information on the genetic nature of the disease, and provide aids and services for low vision. This chapter introduces various testing procedures and how to approach and evaluate patients with IRDs.

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

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 119.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
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

References

  1. Rattner A, Sun H, Nathans J. Molecular genetics of human retinal disease. Annu Rev Genet. 1999;33:89–131.

    Article  CAS  Google Scholar 

  2. Sohocki MM, Daiger SP, Bowne SJ, et al. Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. Hum Mutat. 2001;17(1):42–51.

    Article  CAS  Google Scholar 

  3. AAO Clinical Statement. Recommendations on clinical assessment of patients with inherited retinal degenerations. 2016. https://www.aao.org/clinical-statement/recommendations-on-clinical-assessment-of-patients. Accessed 25 May 2020.

  4. von Rückmann A, Fitzke F, Schmitz-Valckenberg S, et al. Macular and retinal dystrophies. In: Holz FG, Schmitz-Valckenberg S, Spaide R, et al., editors. Atlas of fundus autofluorescence imaging. Berlin: Springer; 2007.

    Google Scholar 

  5. 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 

  6. von Rückmann A, Fitzke FW, Bird AC. In vivo fundus autofluorescence in macular dystrophies. Arch Ophthalmol. 1997;115(5):609–15.

    Article  Google Scholar 

  7. Fleckenstein M, Charbel Issa P, Fuchs HA, et al. Discrete arcs of increased fundus autofluorescence in retinal dystrophies and functional correlate on microperimetry. Eye (Lond). 2009;23(3):567–75.

    Article  CAS  Google Scholar 

  8. Robson AG, Michaelides M, Saihan Z, et al. Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update. Doc Ophthalmol. 2008;116(2):79–89.

    Article  Google Scholar 

  9. Robson AG, Egan C, Holder GE, Bird AC, Fitzke FW. Comparing rod and cone function with fundus autofluorescence images in retinitis pigmentosa. Adv Exp Med Biol. 2003;533:41–7.

    Article  Google Scholar 

  10. Robson AG, El-Amir A, Bailey C, et al. Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. Invest Ophthalmol Vis Sci. 2003;44(8):3544–50.

    Article  Google Scholar 

  11. Lenassi E, Troeger E, Wilke R, Hawlina M. Correlation between macular morphology and sensitivity in patients with retinitis pigmentosa and hyperautofluorescent ring. Invest Ophthalmol Vis Sci. 2012;53(1):47–52.

    Article  Google Scholar 

  12. Ko TH, Fujimoto JG, Schuman JS, et al. Comparison of ultrahigh- and standard-resolution optical coherence tomography for imaging macular pathology. Ophthalmology. 2005;112(11):1922.e1–15.

    Google Scholar 

  13. Fragiotta S, Rossi T, Carnevale C, et al. Vitreo-macular interface disorders in retinitis pigmentosa. Graefes Arch Clin Exp Ophthalmol. 2019;257(10):2137–46.

    Article  CAS  Google Scholar 

  14. Liu J, Lyu J, Zhang X, Zhao P. Lamellar hole-associated epiretinal membrane is a common feature of macular holes in retinitis pigmentosa [published correction appears in Eye (Lond). 2020 Jan 15]. Eye (Lond). 2020;34(4):643–9.

    Google Scholar 

  15. Huckfeldt RM, Comander J. Management of cystoid macular edema in retinitis pigmentosa. Semin Ophthalmol. 2017;32(1):43–51.

    Article  Google Scholar 

  16. Strong S, Liew G, Michaelides M. Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention. Br J Ophthalmol. 2017;101(1):31–7.

    Article  CAS  Google Scholar 

  17. Eriksson U, Larsson E, Holmström G. Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis. Acta Ophthalmol Scand. 2004;82(2):218–23.

    Article  Google Scholar 

  18. Hu QR, Huang LZ, Chen XL, Xia HK, Li TQ, Li XX. X-linked retinoschisis in juveniles: follow-up by optical coherence tomography. Biomed Res Int. 2017;2017:1704623.

    PubMed  PubMed Central  Google Scholar 

  19. Ergun E, Hermann B, Wirtitsch M, et al. Assessment of central visual function in Stargardt’s disease/fundus flavimaculatus with ultrahigh-resolution optical coherence tomography. Invest Ophthalmol Vis Sci. 2005;46(1):310–6.

    Article  Google Scholar 

  20. Lenassi E, Jarc-Vidmar M, Glavac D, Hawlina M. Pattern electroretinography of larger stimulus field size and spectral-domain optical coherence tomography in patients with Stargardt disease. Br J Ophthalmol. 2009;93(12):1600–5.

    Article  CAS  Google Scholar 

  21. Ferrara DC, Costa RA, Tsang S, Calucci D, Jorge R, Freund KB. Multimodal fundus imaging in Best vitelliform macular dystrophy. Graefes Arch Clin Exp Ophthalmol. 2010;248(10):1377–86.

    Article  Google Scholar 

  22. Pianta MJ, Aleman TS, Cideciyan AV, et al. In vivo micropathology of Best macular dystrophy with optical coherence tomography. Exp Eye Res. 2003;76(2):203–11.

    Article  CAS  Google Scholar 

  23. Querques G, Regenbogen M, Quijano C, Delphin N, Soubrane G, Souied EH. High-definition optical coherence tomography features in vitelliform macular dystrophy. Am J Ophthalmol. 2008;146(4):501–7.

    Article  Google Scholar 

  24. Triolo G, Pierro L, Parodi MB, et al. Spectral domain optical coherence tomography findings in patients with retinitis pigmentosa. Ophthalmic Res. 2013;50(3):160–4.

    Article  Google Scholar 

  25. Aizawa S, Mitamura Y, Baba T, et al. Correlation between visual function and photoreceptor inner/outer segment junction in patients with retinitis pigmentosa. Eye. 2009;23:304–8.

    Article  CAS  Google Scholar 

  26. Muscat S, Fahad B, Parks S, Keating D. Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis. Eye (Lond). 2001;15(Pt 6):796–9.

    Article  CAS  Google Scholar 

  27. Yu J, Ni Y, Keane PA, Jiang C, Wang W, Xu G. Foveomacular schisis in juvenile X-linked retinoschisis: an optical coherence tomography study. Am J Ophthalmol. 2010;149(6):973–8.e2.

    Google Scholar 

  28. Sujirakul T, Lin MK, Duong J, Wei Y, Lopez-Pintado S, Tsang SH. Multimodal imaging of central retinal disease progression in a 2-year mean follow-up of retinitis pigmentosa. Am J Ophthalmol. 2015;160(4):786–98.e4.

    Google Scholar 

  29. Grover S, Fishman GA, Brown J Jr. Patterns of visual field progression in patients with retinitis pigmentosa. Ophthalmology. 1998;105(6):1069–75.

    Article  CAS  Google Scholar 

  30. Marmor MF. An updated standard for clinical electroretinography. Arch Ophthalmol. 1995;113(11):1375–6.

    Article  CAS  Google Scholar 

  31. Marmor MF, Fulton AB, Holder GE, et al. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118(1):69–77.

    Article  CAS  Google Scholar 

  32. Hood DC, Bach M, Brigell M, et al. ISCEV standard for clinical multifocal electroretinography (mfERG) (2011 edition). Doc Ophthalmol. 2012;124(1):1–13.

    Article  Google Scholar 

  33. McCulloch DL, Marmor MF, Brigell MG, et al. ISCEV Standard for full-field clinical electroretinography (2015 update) [published correction appears in Doc Ophthalmol. 2015 Aug;131(1):81-3]. Doc Ophthalmol. 2015;130(1):1–12.

    Article  Google Scholar 

  34. Robson AG, Nilsson J, Li S, et al. ISCEV guide to visual electrodiagnostic procedures. Doc Ophthalmol. 2018;136(1):1–26.

    Article  Google Scholar 

  35. Stone EM, Andorf JL, Whitmore SS, et al. Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease. Ophthalmology. 2017;124(9):1314–31.

    Article  Google Scholar 

  36. den Hollander AI, Black A, Bennett J, Cremers FP. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies [published correction appears in J Clin Invest. 2011 Jan 4;121(1):456–7]. J Clin Invest. 2010;120(9):3042–53.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Ophthalmology, Seoul National University Hospital, Seoul, Korea

    Eun Kyoung Lee

Authors
  1. Eun Kyoung Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

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

    Hyeong-Gon Yu

Rights and permissions

Reprints and permissions

Copyright information

© 2022 Springer Nature Singapore Pte Ltd.

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Lee, E.K. (2022). Approach to Inherited Retinal Diseases. In: Yu, HG. (eds) Inherited Retinal Disease. Springer, Singapore. https://doi.org/10.1007/978-981-16-7337-5_2

Download citation

  • DOI: https://doi.org/10.1007/978-981-16-7337-5_2

  • Published:

  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-16-7336-8

  • Online ISBN: 978-981-16-7337-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation