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Retinal imaging in inherited retinal diseases.

Michalis Georgiou1,2, Kaoru Fujinami1,2,3, Michel Michaelides1,2

  • 1UCL Institute of Ophthalmology, University College London, London, UK.

Annals of Eye Science
|April 30, 2021
PubMed
Summary

Inherited retinal diseases (IRD) are a major cause of blindness. This review details current retinal imaging findings for various IRDs, aiding clinicians and scientists in diagnosis and treatment. Advances in genetics and imaging offer new therapeutic avenues.

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Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Molecular Biology
  • Medical Imaging

Background:

  • Inherited retinal diseases (IRDs) are a significant cause of vision loss in the working-age population.
  • Recent advancements in ocular genetics, retinal imaging, and molecular biology have created opportunities for IRD treatments.
  • The first gene therapy for an IRD has been approved, and numerous clinical trials are underway.

Purpose of the Study:

  • To provide clinicians and scientists with a comprehensive overview of the current retinal imaging landscape in inherited retinal diseases.
  • To detail the specific imaging findings associated with various categories of IRDs.

Main Methods:

  • Comprehensive review of existing literature on retinal imaging in inherited retinal diseases.
Keywords:
Retinal imaginginherited retinal diseaseleber congenital amaurosismacular dystrophyretinitis pigmentosa

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  • Categorization of IRDs based on clinical presentation and genetic basis.
  • Detailed description of imaging findings for each IRD category.

    • Main Results:

    • The review covers imaging findings for macular dystrophies (MD), cone and cone-rod dystrophies, cone dysfunction syndromes, Leber congenital amaurosis (LCA), rod-cone dystrophies, rod dysfunction syndromes, and chorioretinal dystrophies.
    • Specific genetic mutations associated with each condition are highlighted, including ABCA4, RS1, BEST1, PRPH2, TIMP3, EFEMP1, GUCA1A, RPGR, CNGA3, CNGB3, PDE6C, PDE6H, GNAT2, ATF6, OPN1LW/OPN1MW, RGS9/R9AP, GUCY2D, CEP290, CRB1, RDH12, RPE65, TULP1, AIPL1, NMNAT1, NR2E3, CYP4V2, RDH5, SAG, GRK1, CHM, and OAT.
    • The imaging findings provide crucial diagnostic information for differentiating between various IRDs.

    Conclusions:

    • Retinal imaging plays a critical role in the diagnosis and management of inherited retinal diseases.
    • Understanding the specific imaging phenotypes associated with different genetic mutations is essential for patient care and therapeutic development.
    • The current review serves as a valuable resource for researchers and clinicians navigating the complex field of IRD imaging.