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Introduction to the special issue on Ophthalmic Genetics: Vision in 2020.

Robert B Hufnagel1, Michael A Walter2, Gavin Arno3,4

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Summary

Ophthalmic genetics explores heritable eye disorders. Advances in imaging and the first gene therapy for Leber Congenital Amaurosis show these conditions are increasingly recognizable and treatable.

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Area of Science:

  • Ophthalmology
  • Medical Genetics
  • Ophthalmic Genetics

Background:

  • The eye's accessibility allows detailed examination and diverse treatments.
  • Heritable ophthalmic disorders present unique diagnostic and therapeutic challenges.
  • Technological advancements enhance the study and management of eye conditions.

Purpose of the Study:

  • To survey the field of Ophthalmic Genetics.
  • To highlight the recognizability and accessibility of heritable eye disorders.
  • To inform clinical geneticists and ophthalmologists about advancements in the field.

Main Methods:

  • Review of current diagnostic techniques including slit lamp microscopy, ophthalmoscopy, and advanced imaging (OCT, adaptive optics).
  • Discussion of therapeutic interventions, including gene therapy.
  • Synthesis of information on heritable ophthalmic disorders.

Main Results:

  • The eye's unique accessibility facilitates comprehensive examination and treatment.
  • The development of novel imaging technologies improves diagnostic capabilities.
  • The first FDA-approved gene therapy (voretigene neparvovec-rzyl) offers new hope for specific genetic eye diseases like Leber Congenital Amaurosis.

Conclusions:

  • Heritable ophthalmic disorders are increasingly understood and accessible for clinical management.
  • Ophthalmic genetics is a rapidly advancing field with significant clinical implications.
  • Collaboration between geneticists and ophthalmologists is crucial for patient care.